Journal articles: 'Skin calcifications'

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Devriese, Magali, Anne Legrand, Marie-Cécile Courtois, Xavier Jeunemaitre, and Juliette Albuisson. "Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency." Vascular Medicine 24, no. 5 (June 4, 2019): 461–64. http://dx.doi.org/10.1177/1358863x19853360.

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Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by skin, eye, and cardiovascular lesions due to ectopic mineralization and fragmentation of elastic fibers of connective tissues. We present an atypical case of PXE with diffuse vascular calcification and negligible skin and eye lesions. The patient was a 37-year-old man suffering from severe bilateral arterial calcifications in superficial femoral and posterior tibial arteries. Eye fundoscopy and skin examination were first considered normal. This phenotype suggested first the diagnosis of Arterial Calcification due to Deficiency of CD73 (ACDC) characterized by mutations in NT5E gene. However, we found two variants in ABCC6 gene, and no variant in NT5E. Skin reexamination revealed few lateral skin papules confined to the scalp. Phenotypic overlap was described in vascular calcification disorders, between GACI and PXE phenotypes, and we discuss here expansion of this overlap, including ACDC phenotype. Identification of these expanding and overlapping phenotypes was enabled by genetic screening of the corresponding genes, in a systematic approach. We propose to create a calcification next generation sequencing (NGS) panel with NT5E, GGCX, ENPP1, and ABCC6 genes to improve the molecular diagnosis of vascular calcification.

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Letavernier, Emmanuel, Elise Bouderlique, Jeremy Zaworski, Ludovic Martin, and Michel Daudon. "Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications." International Journal of Molecular Sciences 20, no. 24 (December 17, 2019): 6353. http://dx.doi.org/10.3390/ijms20246353.

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Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of ENPP1 or CD73. Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall’s plaque, and to a lesser extent may be affected by nephrocalcinosis. In this narrative review, we summarize some recent discoveries relative to the pathophysiology of this mendelian disease responsible for both cardiovascular and renal papillary calcifications, and we discuss the potential implications of pyrophosphate deficiency as a promoter of vascular calcifications in kidney stone formers and in patients affected by chronic kidney disease.

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Frenna, T. H., and J. E. Meyer. "Identification of atypical skin calcifications." Radiology 187, no. 2 (May 1993): 584. http://dx.doi.org/10.1148/radiology.187.2.8475315.

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Poesen, N., M. Heidbüchel, J. J. Van den Oord, and M. Morren. "Chronic Renal Failure and Skin Calcifications." Dermatology 190, no. 4 (1995): 321–23. http://dx.doi.org/10.1159/000246730.

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Lukac, Sonja, Maja Stankov, Dijana Niciforovic, Jelena Pilipovic-Grubor, Daniela Donat, and Tijana Mrdjanin. "Unusual presentation of dermal microcalcifications on mammography images: A case report." Medical review 75, no. 9-10 (2022): 305–7. http://dx.doi.org/10.2298/mpns2210305l.

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Introduction. Calcifications and microcalcifications are mineral deposits in the breast tissue. Breast calcifications are a common mammographic finding, present on over 80% of images, and they are usually benign. Characteristics such as size, shape, number, distribution pattern, location, density, and other findings help determine the pathology. Dermal calcifications of the breast are superficial and benign calcifications that are usually found on the sebaceous glands of the skin. In some cases, calcifications can be the first marker of underlying cancer development. They may be associated with the presence of ductal carcinoma in situ or even invasive ductal carcinoma that has spread to the surrounding breast tissue. By correct identification of benign calcifications as such, unnecessary interventions and use of limited resources can be avoided. Case Report. A 66-year-old female patient presented for a regular mammography check-up. On the previous mammographic examination, she was categorized as bilateral breast imaging reporting and data system 1. The new mammography images showed numerous newly formed grouped microcalcifications at the junction of the lower quadrants of the right breast, and a stereotactic vacuum-assisted biopsy was indicated. During the biopsy attempt, the image guided biopsy program did not detect any calcifications in the parenchyma or in any projection and therefore it did not allow the biopsy procedure to continue after several attempts. Examination of the right breast skin revealed lesions treated by the patient for a few weeks; a repeat mammogram was performed and it was observed that the calcifications were of dermal origin. Conclusion. Dermal calcifications are mostly tiny, about the size of skin pores, single or clustered, and often have a calcified rim surrounding a lucent center. However, dermal calcifications deserve a special attention, because they sometimes lack a lucent center and simulate grouped intraparenchymal calcifications that require careful monitoring or biopsy.

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Žatecký, Jan, Oldřich Coufal, Dobroslav Sekret, and Matúš Peteja. "Symptomatic Calcifications after Mastectomy: A Rare Case Report with a Review of the Literature." Medicina 60, no. 3 (February 26, 2024): 399. http://dx.doi.org/10.3390/medicina60030399.

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Introduction: Symptomatic calcifications of the breast or skin after breast cancer surgery and adjuvant radiotherapy are a rare entity, with only a few case reports published worldwide, reducing the patient’s quality of life, whilst asymptomatic calcifications are a common finding on imaging methods. Case presentation: Herein, we present a rare case report of calcifications after mastectomy and post-mastectomy radiation therapy causing chronic inflammation with ulceration and fistula formation, with a two-step surgical approach consisting of excision with linear suture and excision with the reconstruction using a thoraco-epigastric flap. Conclusions: To our knowledge, this is the first publication proving the feasibility of this therapy in patients with symptomatic dystrophic calcifications of the skin or the breast. Moreover, the article provides an up-to-date review of published studies about symptomatic calcifications after breast cancer surgery and radiotherapy with a focus on the time of the clinical manifestation from the radiotherapy and the used radiotherapy scheme.

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Diekmann, Felix, Susanne Diekmann, Ulrich Bick, and Bernd Hamm. "Reduced-Dose Digital Mammography of Skin Calcifications." American Journal of Roentgenology 178, no. 2 (February 2002): 473–74. http://dx.doi.org/10.2214/ajr.178.2.1780473.

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Sinitsyna, Anastasiya Vyacheslavovna, Yelena Vladimirovna Sinelnikova, Valentin Nikolayevich Krivokhizh, Olga Leonidovna Krasnogorskaya, Ruslan Abdullayevich Nasyrov, Pavel Vladimirovich Gavrilov, and Yevgeniy Viktorovich Zharov. "Particular Features of the Sonograms of the Ligamentum Arteriosum and Para-Aortic Arterial Calcifications in Children Suffering From Tuberculosis of Intrathoracic Lymph Nodes." Pediatrician (St. Petersburg) 5, no. 1 (March 15, 2014): 70–75. http://dx.doi.org/10.17816/ped5170-75.

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The paper presents the results of a study aimed to check the assumption that there is disparity in interpretation of X-ray and ultrasound images of Ductus arteriosus in children supposed to have tuberculosis. In total the images of 230 children with ambiguous Mantoux tuberculin skin test and with calcification adjusted to aortic window described in terms of regular X-ray were investigated. It is stated that multispiral computer tomograms are usually falsely interpreted as presenting calcifications in cases when ultrasound scans reveal only tissue heterogeneity near former Ductus arteriousus.

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Rael, Jesse, and Gunnar Cederbom. "CARCINOMA-LIKE CALCIFICATIONS CAUSED BY UNUSUAL SKIN CONDITION." Southern Medical Journal 83, Supplement (September 1990): 2S—103. http://dx.doi.org/10.1097/00007611-199009001-00417.

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Linden, S. S., and D. C. Sullivan. "Breast skin calcifications: localization with a stereotactic device." Radiology 171, no. 2 (May 1989): 570–71. http://dx.doi.org/10.1148/radiology.171.2.2649928.

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Richter, Patricia, Anca Cardoneanu, Alexandra Maria Burlui, Luana Andreea Macovei, Ioana Bratoiu, Ruxandra Mihai, and Elena Rezus. "Total spleen calcification - a rare clinical manifestation in systemic lupus erythematosus." Romanian Journal of Rheumatology 31, no. 3 (September 30, 2022): 128–31. http://dx.doi.org/10.37897/rjr.2022.3.5.

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Splenomegaly, infarction, spontaneous rupture and hyposplenism are among the frequently manifestations of splenic involvement in systemic lupus erythematosus (SLE) patients. Exceptionally, extensive splenic calcifications are found in SLE. This aspect is due to the periarterial thickening in an “onion-skin” model. Discrete, small, circular and diffuse nodules that are distributed at the level of the parenchyma, but that are missing at the capsular and subcapsular level, are the main characteristics of these calcifications. The aim of this report is to present the case of a SLE patient with this rare splenic calcifications association.

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Sitzman, S. B. "A useful sign for distinguishing clustered skin calcifications from calcifications within the breast on mammograms." American Journal of Roentgenology 158, no. 6 (June 1992): 1407–8. http://dx.doi.org/10.2214/ajr.158.6.1590166.

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Flowers, Lauren, Mandeep Sandhu, and Kari Martin. "Skin Cancer." Journal of the Dermatology Nurses' Association 15, no. 6 (October 26, 2023): 268–72. http://dx.doi.org/10.1097/jdn.0000000000000764.

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ABSTRACT Basal cell nevus syndrome is a genetically linked multisystem disorder with a hallmark tendency for development of multiple basal cell carcinomas at a young age. It is associated with a multitude of other anomalies including keratocytes of the jaw, palmar or plantar pits, and ectopic intracranial calcifications. This disease is most commonly caused by loss of function in tumor suppressor gene PTCH1 resulting in overactivation of the Hedgehog pathway and basal cell carcinoma formation. Diagnosis is largely clinical; patients must meet criteria of both major and minor categories. Genetic testing is warranted in specific situations where clinical diagnosis is unclear or for genetic counseling purposes. Given that basal cell carcinoma is a very common dermatologic disorder, it is important to recognize when it arises in the setting of genetically associated diseases. Early detection allows for proper management and surveillance of not only basal cell carcinomas but also the other multisystem effects of basal cell nevus syndrome. This review gives an in-depth overview of the etiology, pathogenesis, diagnosis, and management of basal cell nevus syndrome.

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Li, Huan, Meng Wang, Guanghui Lian, Xueying Long, Christina Fleming, Eli D. Ehrenpreis, Ahmed Khattab, Lisa Nyberg, and Jie Peng. "Multiple calcifications in the skin and viscera: a case report." Journal of Xiangya Medicine 4 (August 2019): 31. http://dx.doi.org/10.21037/jxym.2019.07.02.

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Woźniak, Witold, Anna Danowska, and Robert K. Mlosek. "The use of high-frequency skin ultrasound in the diagnosis of lipodermatosclerosis." Journal of Ultrasonography 20, no. 83 (December 18, 2020): 284–90. http://dx.doi.org/10.15557/jou.2020.0050.

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Introduction: Lipodermatosclerosis is a symptom of severe venous insufficiency, the diagnosis of which is based on the clinical picture. Although the histopathology of the skin and the subcutaneous tissue allows for the most reliable diagnosis, it is not recommended due to healing disorders. Aim: The aim of this study was to assess the usefulness of high-frequency ultrasound in the diagnosis of lipodermatosclerosis. Materials and methods: The study included 10 patients with lipodermatosclerosis who underwent Duplex Doppler ultrasound of lower limb veins, high-frequency ultrasound of the tibial skin, and radiography of the lower leg, all of which were analyzed in correlation with clinical symptoms. Results: The study group included 9 women and 1 man aged 39–81 years. Manifestations of lipodermatosclerosis were detected in 14 limbs. High-frequency ultrasound showed that the mean dermis thickness at the affected sites was 2.63 mm, and was significantly thicker compared to healthy skin (1.45 mm) (p = 0.00002). Higher echogenicity was detected in the affected body regions in 85.7% of cases for the skin and 92.9% of cases for the subcutaneous tissue. Subcutaneous and vascular wall calcifications were detected in 92.9% and 78.6% of cases, respectively. Fibrosis was observed in all limbs, and compression sonoelastography showed that the compliance of the subcutaneous tissue was lower than that of muscles. The border between the skin and the subcutaneous tissue was blurred in 57.1% of cases. Radiography revealed thickening of the affected skin regions in all limbs, with calcifications detected in 85.7% of cases. A blurred border between the skin and the subcutaneous tissue was observed in 35.7% of limbs. Conclusion: High-frequency ultrasonography of the skin and the subcutaneous tissue in the lower legs supported with radiological findings is highly useful in the diagnosis of lipodermatosclerosis.

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Berkowitz, J. E., O. M. Gatewood, G. B. Donovan, and B. W. Gayler. "Dermal breast calcifications: localization with template-guided placement of skin marker." Radiology 163, no. 1 (April 1987): 282. http://dx.doi.org/10.1148/radiology.163.1.3823452.

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Öz, Ferhan, Nuran Kalekoglu, Baris Karakullukçu, Özcan Öztürk, and Büge Öz. "Lipoid proteinosis of the larynx." Journal of Laryngology & Otology 116, no. 9 (September 2002): 736–39. http://dx.doi.org/10.1258/002221502760238082.

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Lipoid proteinosis is a rare disease that presents with hyaline deposits in many tissues. It involves predominantly the skin and upper aerodigestive tract, presenting with small yellowish papules and hoarseness. It may involve the central nervous system and cause intracerebral calcifications. Laryngeal lesions may resemble singer’s nodule or chronic laryngitis. The pathogenesis of the disease is not clear although several studies suggest a defective collagen production and/or lysosomal storage disease. In this article two cases with skin and larynx involvement are reported.

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Oyedepo, Jadesola, Elena Moraitis, and Lea Solman. "P24 Recurrent skin ulcerations as an isolated manifestation of ISG15 deficiency." British Journal of Dermatology 189, no. 3 (August 24, 2023): e50-e50. http://dx.doi.org/10.1093/bjd/ljad259.032.

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Abstract Type I interferonopathies are characterized by a very broad phenotypic spectrum; however, some overlapping clinical features are seen across the type I interferonopathies, most particularly brain and skin involvement. We report a female patient presenting at 7 months of age with ulcerations in her groin and axilla. The lesions in her axilla healed; however, she continued having recurrent ulcerations in both sides of her groin and she developed lipoatrophy of the lower abdomen. Skin biopsy revealed deep-seated inflammation with abnormal adipose tissue; no bacteria were isolated. Extensive immunology blood work-up did not reveal any abnormalities, and the inflammatory markers were normal. Because of the extent of the clinical findings and pending results of genetic screening with targeted next-generation sequencing, we commenced methotrexate at 1 year of age (15 mg m–2). Following the initiation of methotrexate, there was marked improvement in the clinical features, with resolution of active skin ulceration. Genetic screening revealed a homozygous stop mutation in ISG15 p.Q16X. A CT scan of her head did not show any calcifications. Methotrexate was stopped at age 3 years. She remains well with no further skin ulcerations, and her development continues to be age appropriate. ISG15 deficiency is a type I interferonopathy, previously described in association with intracranial calcifications and increased susceptibility to mycobacteria infections. However, more recent reports have described skin ulcerations as a main finding in addition to neurological and immunological manifestations. Our patient is not showing any signs of neurological or other immunological manifestations but remains under careful monitoring.

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Lin, Shan-Yang, Mei-Jane Li, and Wen-Ting Cheng. "FT-IR and Raman vibrational microspectroscopies used for spectral biodiagnosis of human tissues." Spectroscopy 21, no. 1 (2007): 1–30. http://dx.doi.org/10.1155/2007/278765.

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Fourier transform infrared (FT-IR) and Raman vibrational microspectroscopies used for biomedical diagnosis of human tissues are reviewed from basic principle to biological applications. The advantages and disadvantages of both vibrational microspectroscopies are compared to highlight their efficiency and adaptability for noninvasively investigating the chemical compositions of ultrastructual human tissues at different disease states. Biochemical fingerprints applied to the biological samples by using FT-IR and Raman microspectroscopies are illustrated. The spectral biodiagnoses of several diseased human tissues such as ophthalmic disorders (risk factors-induced cataractous lens capsules and lens, lens and corneal calcifications, opacification and contamination of intraocular lens, vitreous asteroid bodies), alcohol-disordered human gastric mucosa, skin disorders (cancer and calcification), brain tumors (pituitary adenomas and astrocytomas), genetic hair roots disorder (glucose-6-phosphate dehydrogenase deficiency, phenylketonuria and congenital hypothyroidism), benign prostatic hyperplasia, and interstitial cystitis investigated by both vibrational microspectroscopies in our laboratory are introduced.

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Gómez García, E. B., M. B. I. Lobbes, K. van de Vijver, K. Keymeulen, F. van der Ent, H. G. Yntema, V. C. Tjan-Heijnen, and C. Boetes. "Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome." Case Reports in Radiology 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/638725.

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Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.

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Braddock, Demetrios T., Dillon Kavanagh, and Xiaofeng Li. "Novel Biologic Therapy for Untreated Diseases of Vascular Calcification." Blood 128, no. 22 (December 2, 2016): 2326. http://dx.doi.org/10.1182/blood.v128.22.2326.2326.

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Abstract Diseases of medial wall vascular and connective tissue calcification associated with low plasma pyrophosphate (PPi) range from orphan diseases such as Pseudoxanthoma Elasticum (PXE) and Generalized Calcification of Infancy (GACI) to ubiquitous diseases of medial wall vascular calcification affecting every aging adult such as hardening of the arteries associated with aging. Although recognized as a potent mineralization inhibitor for over a generation, PPi has never been established as a causative agent in the broad class of connective tissue diseases and effective therapeutics capable of treating the calcifications driving the morbidity and mortality of these conditions is lacking. We have recently demonstrated that elevation of plasma PPi using a novel biologic containing the pyrophosphate generating enzyme ENPP1 is curative in rodent models of the rare orphan disease GACI - a severe lethal neonatal disease of arterial calcification. Here, we demonstrate the efficacy of this approach in a more common disorder of vascular and connective tissue calcification and low plasma PPi called PXE. PXE is a monogenic, hereditable connective tissue disease characterized by aberrant mineralization of the skin, eye, and vasculature. PXE is associated with loss of function mutations in the ABCC6 gene - a multi-pass ATP dependent membrane transport protein. Two opposing theories regarding the genetic etiology of PXE are held - a metabolic hypothesis postulating that ABCC6 mutations deprive the body of a global mineralization inhibitor, and a cellular hypothesis postulating that ABCC6 mutations compromise a stem cell progenitor locally present within specific tissues. Both etiologies are proposed to account for the regional mineral and elastic fiber alterations present in the disease. Although the substrate of ABCC6 is unknown, patients with PXE (and ABCC6 knockout mice) have plasma [PPi] at about 20-30% of unaffected (or wild-type) individuals. Furthermore, transfections of ABCC6 into HEK cells increase extracellular [ATP] in vitro. ATP is metabolized into PPi by the extracellular enzyme ENPP1, and the combined findings support the notion that ABCC6 mutations decrease extracellular [ATP] thereby limiting ENPP1 production of PPi by limiting the enzymatic substrate of the enzyme. Here, we demonstrate that subcutaneous administration of ENPP1-Fc, a fusion protein containing the enzyme ENPP1, normalizes serum PPi concentrations in ABCC6 knockout mice. Furthermore, we show that normalization of serum PPi by this means potently inhibits the regional connective tissue calcifications present in ABCC6 knockout mice. Our findings provide in vivo experimental evidence for the metabolic basis of PXE. Furthermore, because ENPP1 is downstream of ABCC6, the efficacy of ENPP1-Fc is surprising and indicates that reduced extracellular [ATP] may not be the etiology for the decreased plasma PPi concentrations reported in PXE patients as previously proposed. Finally, the efficacy of ENPP1-Fc on the connective tissue calcifications in PXE suggests that elevation of plasma PPi by this means may be efficacious in spectrum of severe and poorly treated connective tissue calcification disorders associated with low plasma PPi. Disclosures Braddock: Yale University: Patents & Royalties: Yale University owns a patent on the technology, in which Demetrios Braddock is listed as an inventor.

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Letavernier, Emmanuel, Gilles Kauffenstein, Léa Huguet, Nastassia Navasiolava, Elise Bouderlique, Ellie Tang, Léa Delaitre, et al. "ABCC6 Deficiency Promotes Development of Randall Plaque." Journal of the American Society of Nephrology 29, no. 9 (July 10, 2018): 2337–47. http://dx.doi.org/10.1681/asn.2017101148.

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BackgroundPseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina, and arteries. However, many patients with PXE experience kidney stones. We determined the prevalence of this pathology in patients with PXE and examined the possible underlying mechanisms in murine models.MethodsWe conducted a retrospective study in a large cohort of patients with PXE and analyzed urine samples and kidneys from Abcc6−/− mice at various ages. We used Yasue staining, scanning electron microscopy, electron microscopy coupled to electron energy loss spectroscopy, and Fourier transform infrared microspectroscopy to characterize kidney calcifications.ResultsAmong 113 patients with PXE, 45 (40%) had a past medical history of kidney stones. Five of six computed tomography scans performed showed evidence of massive papillary calcifications (Randall plaques). Abcc6−/− mice spontaneously developed kidney interstitial apatite calcifications with aging. These calcifications appeared specifically at the tip of the papilla and formed Randall plaques similar to those observed in human kidneys. Compared with controls, Abcc6−/− mice had low urinary excretion of pyrophosphate.ConclusionsThe frequency of kidney stones and probably, Randall plaque is extremely high in patients with PXE, and Abcc6−/− mice provide a new and useful model in which to study Randall plaque formation. Our findings also suggest that pyrophosphate administration should be evaluated for the prevention of Randall plaque and kidney stones.

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Zenati, Nora, Charles Khouri, Carole Schwebel, and Sophie Blaise. "Skin necrosis and calcifications after extravasation of vancomycin: a localised form of calciphylaxis?" Journal of Wound Care 30, no. 5 (May 2, 2021): 390–93. http://dx.doi.org/10.12968/jowc.2021.30.5.390.

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Vancomycin is a tricyclic glycopeptide antibiotic produced from Streptococcus orientalis. There is much variation in the literature with regard to the recommended dose, dilution rate and type of infusion. Given the vesicant properties of vancomycin at supratherapeutic doses (>10mg/ml), tissue damage including blistering and necrosis have been reported. We report a rare case of bilateral cutaneous necrosis induced by accidental extravasation of vancomycin when being intravenously administered. The skin surrounding the injection site was marked by the appearance of subcutaneous calcifications. The development of iatrogenic skin calcinosis has not yet been described for the extravasation of vancomycin. The mechanism underlying the calcinosis observed in our case remains unclear, but we hypothesised a form of localised calciphylaxis induced by a local triggering factor. The ulcers progressed to re-epithelialisation following necrosis debridement and local conservative treatments. Given the increased prevalence of meticillin-resistant Staphylococcus aureus, which has prompted clinicians to gradually increase vancomycin dosage, clinicians should be aware of the high risk of skin toxicity in cases of vancomycin high-dose extravasation.

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Kyoung, Jun, Jennifer Caudill, Lauren Workman, and Richard Simman. "Dystrophic Calcinosis Cutis Leading to a Nonhealing Wound in a Patient with Chronic Venous Insufficiency." Plastic and Reconstructive Surgery - Global Open 12, no. 2 (February 2024): e5641. http://dx.doi.org/10.1097/gox.0000000000005641.

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Summary: The presence of bony-appearing fragments and calcifications appearing superficially in a chronic, nonhealing wound raises suspicion for osteomyelitis. When radiological imaging and tissue biopsy of the lesion return negative for osteomyelitis, however, the differentials must be widened to successfully manage and heal a chronic wound. In this report, we discuss a case of an 80-year-old morbidly obese woman with a history of chronic venous insufficiency, hereditary hemochromatosis, and squamous cell carcinoma who presented to the wound clinic with a 5-month history of a nonhealing wound with bony-appearing fragments and calcifications on her left anterior leg status postbiopsy during routine skin examination. Upon clinical correlation with laboratories and imaging, it was determined that the cause of her nonhealing wound was due to dystrophic calcinosis cutis.

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Sadikhova, Z. M., M. N. Mammadova, R. R. Aliyev, B. A. Babayeva, N. M. Huseynova, A. I. Guliyeva, and M. A. Gasimov. "STURGE-WEBER SYNDROME." National Journal of Neurology 2, no. 08 (November 30, 2015): 124–30. http://dx.doi.org/10.61788/njn.v2i15.19.

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Sturge-Weber syndrome (SWS) refers to phakomatoses. In the classic form of SWS there are the triad of symptoms such as skin angioma, pathology of the eye and neurological disorders. In our clinical case on one half of the face are observed reddish, bluish tint cutaneous nevi "port wine stains" - angiomatosis, on the same side in the gyrus of the occipital-temporal-parietal lobes calcifications vertically up to 60mm (on computer tomography), generalized seizures which resistant to the treatment and sharp-slowly wave complex on electroencephalography, headaches, eye disorders as impaired vision and pain in the eyeball. The diagnosis was based on cutaneous angiomatosis, calcifications in the brain and seizures. Such patients recommended medical supervision, in case of increase of clinical symptoms providing preventive measures with the use of surgical methods.

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Patetsios, Peter, Michael Bernstein, Sanghyun Kim, Robert Mushnick, and Antonio Alfonso. "Severe Necrotizing Mastopathy Caused by Calciphylaxis Alleviated by Total Parathyroidectomy." American Surgeon 66, no. 11 (November 2000): 1056–58. http://dx.doi.org/10.1177/000313480006601115.

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Calciphylaxis is a complication caused by secondary hyperparathyroidism in patients with chronic renal failure. These patients may present with clinical findings of ischemic necrosis involving the skin and muscle resulting in subsequent gangrene and vascular calcifications. We report a rare case of necrotizing mastopathy caused by calciphylaxis in a 70-year-old female with end-stage renal disease whose symptoms resolved with a total parathyroidectomy.

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Idzior, Marta, Maria Sotniczuk, Emil Michalski, Piotr Gietka, and Iwona Sudoł-Szopińska. "Ultrasonography, MRI and classic radiography of skin and MSK involvement in juvenile scleroderma." Journal of Ultrasonography 20, no. 83 (December 18, 2020): 311–17. http://dx.doi.org/10.15557/jou.2020.0054.

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Scleroderma is a rare, autoimmune, chronic condition that affects the connective tissue by excessive collagen production. If diagnosed before the age of 16, it is referred to as juvenile scleroderma. There are two major types of the condition: localized and generalized scleroderma. Localized scleroderma has a much higher incidence than the generalized type which is extremely rare among children and affects mostly adults. In either case, imaging can prove to be useful in both the diagnosis and monitoring of the disease. In this article, we aim to review the imaging findings that can be present in juvenile scleroderma, focusing on ultrasonography, magnetic resonance imaging, and classic radiography. Ultrasound provides high-resolution images in real-time dynamic examination. With high-frequency transducers, it may provide a considerable input into the imaging of skin and musculoskeletal involvement. Several findings might be present when using B-mode or Doppler modalities such as thickening and hypervascularization of the cutis and subcutaneous tissue, synovitis and tenosynovitis, as well as small calcifications. Magnetic resonance imaging is also useful to evaluate inflammatory skin infiltration or skin atrophy, as well as deeply located structures, including fasciae, muscles and joints that might not be seen on ultrasonography. This modality is, however, expensive and time-consuming, and might require sedition in children. Classic radiology can show soft tissue calcifications, acroosteolysis, contractures, and subluxations. Computed tomography, which requires a high dose of radiation, is generally avoided in children, except in very specific cases.

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Dusilova-Sulkova, Sylvie, Roman Safranek, Erik Mistrik, Petr Moucka, Eva Kocova, and Lubos Sobotka. "SP551HAND ARTERIES CALCIFICATIONS ARE ASSOCIATED WITH WORSE PERIPHERAL SKIN PERFUSION IN HAEMODIALYSIS PATIENTS." Nephrology Dialysis Transplantation 30, suppl_3 (May 2015): iii561—iii562. http://dx.doi.org/10.1093/ndt/gfv197.18.

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Tan, Onder, Bekir Atik, Ali Kizilkaya, Erdener Ozer, and Salih Kavukcu. "Extensive Skin Calcifications in an Infant with Chronic Renal Failure: Metastatic Calcinosis Cutis." Pediatric Dermatology 23, no. 3 (May 2006): 235–38. http://dx.doi.org/10.1111/j.1525-1470.2006.00224.x.

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Grebeldinger, Slobodan, Jelena Tomic, Gordana Vijatov-Djuric, Branka Radojcic, Nada Vuckovic, and Jelena Culafic. "Dystrophic calcifications and Raynaud’s phenomenon in an eight-year old girl." Srpski arhiv za celokupno lekarstvo 142, no. 3-4 (2014): 239–42. http://dx.doi.org/10.2298/sarh1404239g.

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Introduction. Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud?s phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia), dermatomyositis, systemic lupus erythematosus, ad myositis ossificans progressiva. Case Outline. We present the case of an eight-year old girl with tumorous soft tissue calcium deposits and Raynaud?s phenomenon. At the age of 3.5 years, our patient was admitted to Pediatric Surgery Clinic because of bilateral acrocyanosis localized at the fingertips area of hands, with the signs of vascular trauma. Therapy with vasodilators and hyperbaric oxygen treatment were completed. This therapy resulted in improvement. At the age of eight, the patient was admitted again due to intermittent, painful cramps localized in both hands. Punctiform deposits were present at the tips of fingers and toes, which looked like calcifications and were spontaneously eliminated, with the remnants of crater-shaped defects. A hard tumorous deformity localized in soft tissue was present in the extensor area of the right elbow. Laboratory indicators of inflammation were within the reference values, and antinuclear antibodies were positive. A nodus localized at the right elbow was extirpated. Pathohistological findings: connective and fat tissue with large deposits of calcium. Conclusion. Further follow-up of our patient is necessary due to possible development of complete picture of CREST syndrome or systemic sclerosis.

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Atzeni, I. M., E. M. Hogervorst, G. M. Swart, K. De Leeuw, M. Bijl, R. Bos, J. Westra, et al. "SAT0285 VISUALISATION OF THE ACTIVE CALCIFICATION PROCESS WITH 18-F SODIUM FLUORIDE PET/CT IN LIMITED CUTANEOUS SYSTEMIC SCLEROSIS WITH CALCINOSIS CUTIS IS FEASIBLE: A PILOT STUDY." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1087.2–1087. http://dx.doi.org/10.1136/annrheumdis-2020-eular.4629.

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Background:Calcinosis cutis is a major daily challenge to patients with longstanding systemic sclerosis (SSc), negatively affecting their quality of life. Unfortunately, treatment options are very limited due to lack of understanding of the pathogenetic process. Currently, calcinosis cutis is only detected at its irreversible end-stage. Early detection of calcinosis cutis could putatively allow early disease-modifying interventions and monitor treatment effects.Objectives:The aim of the current study is to assess the feasibility of visualising “active” micro-calcifications with 18-F Sodium Fluoride (NaF) PET scanning, compared to low-dose CT in patients with clinically overt calcinosis cutis.Methods:This was a cross-sectional, observational, pilot study. All patients met 2013 ACR/EULAR criteria for SSc. Patients underwent a whole body NaF PET/low-dose CT scan, scanned 90 minutes post-injection. (Sub)cutaneous calcifications were described and assessed on NaF PET, which was compared to CT images by two independent investigators.Results:A total of 10 female patients with limited cutaneous SSc [median age 56 years (IQR 52-66), median disease duration 17 years (8-19), PAH 10%, ILD 20%] were included, and compared to 10 controls [70 years (65-73)]. NaF uptake showed normal distribution throughout the skeletal bones, arterial tree, and visceral organs, which was comparable between patients and controls. Additionally, NaF uptake was visible in the skin of all SSc patients, but in none of the controls. Cutaneous NaF uptake largely correlated with clinical calcifications. Most common sites of cutaneous NaF uptake were fingers (6 patients) and knees (7 patients). Only 5% of the NaF positive lesions were not accompanied by visible calcifications on CT. Furthermore, of all calcified lesions seen on CT, 51% showed uptake on NaF PET. Small lesions (<1 cm), were generally only visible on CT, due to lower resolution of NaF PET.Conclusion:Imaging of “active” calcinosis cutis in limited cutaneous systemic sclerosis is feasible using NaF PET scanning. Most clinically overt calcifications and half of those seen on CT were positive for NaF uptake. Whether these “active” calcifications behave differently in terms of faster progression, clinical complaints, and infection risk, and whether these are potentially suitable for disease modifying interventions is subject to future study.Disclosure of Interests:None declared

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Rodriguez-Ruiz, Alejandro, Jonas Teuwen, Suzan Vreemann, Ramona W. Bouwman, Ruben E. van Engen, Nico Karssemeijer, Ritse M. Mann, Albert Gubern-Merida, and Ioannis Sechopoulos. "New reconstruction algorithm for digital breast tomosynthesis: better image quality for humans and computers." Acta Radiologica 59, no. 9 (December 18, 2017): 1051–59. http://dx.doi.org/10.1177/0284185117748487.

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Background The image quality of digital breast tomosynthesis (DBT) volumes depends greatly on the reconstruction algorithm. Purpose To compare two DBT reconstruction algorithms used by the Siemens Mammomat Inspiration system, filtered back projection (FBP), and FBP with iterative optimizations (EMPIRE), using qualitative analysis by human readers and detection performance of machine learning algorithms. Material and Methods Visual grading analysis was performed by four readers specialized in breast imaging who scored 100 cases reconstructed with both algorithms (70 lesions). Scoring (5-point scale: 1 = poor to 5 = excellent quality) was performed on presence of noise and artifacts, visualization of skin-line and Cooper’s ligaments, contrast, and image quality, and, when present, lesion visibility. In parallel, a three-dimensional deep-learning convolutional neural network (3D-CNN) was trained (n = 259 patients, 51 positives with BI-RADS 3, 4, or 5 calcifications) and tested (n = 46 patients, nine positives), separately with FBP and EMPIRE volumes, to discriminate between samples with and without calcifications. The partial area under the receiver operating characteristic curve (pAUC) of each 3D-CNN was used for comparison. Results EMPIRE reconstructions showed better contrast (3.23 vs. 3.10, P = 0.010), image quality (3.22 vs. 3.03, P < 0.001), visibility of calcifications (3.53 vs. 3.37, P = 0.053, significant for one reader), and fewer artifacts (3.26 vs. 2.97, P < 0.001). The 3D-CNN-EMPIRE had better performance than 3D-CNN-FBP (pAUC-EMPIRE = 0.880 vs. pAUC-FBP = 0.857; P < 0.001). Conclusion The new algorithm provides DBT volumes with better contrast and image quality, fewer artifacts, and improved visibility of calcifications for human observers, as well as improved detection performance with deep-learning algorithms.

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Srinivasan, K. G., S. Ramprabananth, S. Srividya, and K. P. Ushanandhini. "Typical Radiological Findings of Lipoid Proteinosis of Urbach and Wiethe." Neuroradiology Journal 22, no. 4 (August 2009): 439–42. http://dx.doi.org/10.1177/197140090902200413.

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Lipoid proteinosis is a rare autosomal recessive dermatosis, which can be congenital or have onset in infancy. It is characterized by the progressive deposition of an amorphous hyaline substance with a glycoprotein constitution in the skin and mucous membranes and presents as papular lesions that can aggregate forming plaques with a yellowish discoloration. We present a case of lipoid proteinosis in a seven-year-old boy where characteristic calcifications in the medial temporal lobe helped in early initiation of treatment.

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Linan-Barroso, Juan Manuel, Alexei Gonzalez-Estrada, and Jose Salvador García-Morillo. "Therapy-resistant dermatomyositis with extensive ‘lumbar belt’ calcinosis." BMJ Case Reports 15, no. 5 (May 2022): e249110. http://dx.doi.org/10.1136/bcr-2022-249110.

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Calcinosis cutis (CC) is the umbrella term for calcium salt deposition on skin and subcutaneous tissue. We present a unique case of CC associated with anti-Mi2-positive dermatomyositis, having a distinctive distribution of subcutaneous calcifications appearing as a ‘lumbar belt’. Treatment of CC remains challenging for clinicians due to a lack of high-quality evidence. Corticosteroids, methotrexate, bisphosphonates, intravenous immunoglobulin replacement, rituximab and sodium thiosulfate failed to halt calcinosis progression in this case. Newer therapies, such as Janus kinase inhibitors, should be considered.

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Novotny, Aaron G., Ashley B. Simpson, Melinda A. Kral, Benjamin C. Calhoun, Amy E. Cocco, Steven D. Billings, Susan K. Miller, Paulette L. Lebda, and Charles D. Sturgis. "Calciphylaxis of the Postmenopausal Female Breast: An Uncommonly Encountered Mimic of Carcinoma." Case Reports in Pathology 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/4541620.

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Calciphylaxis is a serious medical condition that is typically associated with end-stage renal disease and presents as the sequelae of calcifications in arterioles with subsequent ischemia of affected tissues. Classically, calciphylaxis produces ulcerated and necrotic skin lesions. These may be biopsied to aid in confirmation of the diagnosis. Herein we report a case of a large necrotic breast lesion in the clinical setting of calciphylaxis, and we emphasize that a multidisciplinary approach to diagnosis and management is important to avoid unnecessary oncological resection.

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Baumgartner-Nielsen, J., and A. Olesen. "Treatment of Skin Calcifications with Intra-lesional Injection of Sodium Thiosulphate: A Case Series." Acta Dermato Venereologica 96, no. 2 (2016): 257–58. http://dx.doi.org/10.2340/00015555-2206.

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Matsuo, Flávia Sayuri, Alceu Luiz Camargo Villela Berbert, Sônia Antunes de Oliveira Mantese, Adriano Mota Loyola, Sérgio Vitorino Cardoso, and Paulo Rogério de Faria. "Pseudoxanthoma Elasticum of the Skin with Involvement of the Oral Cavity." Case Reports in Dentistry 2013 (2013): 1–6. http://dx.doi.org/10.1155/2013/490785.

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Pseudoxanthoma elasticum (PXE) is an inherited multisystemic disease of elastic fibers that primarily affects the skin and retina. A case of primary PXE of the skin with late involvement of the upper lip is reported. A 55-year-old woman with a previous diagnosis of PXE affecting her skin developed a lesion on her lower lip. An oral examination identified a yellowish macule of undefined limits. A biopsy from her lip was taken and both light and transmission electron microscopies confirmed the presence of fragmented elastic fibers and calcifications on her mucosa, which was compatible with the diagnosis of oral PXE. Since the manifestation of oral PXE is rare in this region, dental practitioners must be aware that this systemic condition may produce oral lesions, which sometimes may mimic other benign diseases of the oral cavity like Fordyce granules. So, the establishment of an appropriate diagnosis is necessary to provide adequate information and attention to the patient.

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Verteramo, Rosita, Erica Santi, Francesca Ravennati, Gennaro Scutiero, Pantaleo Greco, and Danila Morano. "Ultrasound Findings of Fetal Infections: Current Knowledge." Reproductive Medicine 3, no. 3 (July 18, 2022): 201–21. http://dx.doi.org/10.3390/reprodmed3030016.

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Infectious diseases during pregnancy are still a major cause of fetal mortality and morbidity worldwide. The most common teratogenic pathogens are cytomegalovirus (CMV), varicella-zoster virus (VZV), rubeovirus, parvovirus B19, herpes simplex virus (HSV), Toxoplasma gondii, Treponema pallidum and the emergent Zika virus (ZIKV). Ultrasound findings include cerebral anomalies, orbital defects, micrognathia, cardiac defects, hepatosplenomegaly, liver calcifications, abdominal anomalies, skin and limb anomalies, edema, placental and amniotic fluid anomalies and altered Doppler analyses. The classification of ultrasound markers of congenital infections by anatomical region is reported to guide differential diagnosis and prenatal care.

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Lungulescu, Cristian, Georgiana-Cristiana Camen, Raluca-Elena Nica, Viorel Biciusca, and Teodor-Nicusor Sas. "CLINICAL, IMAGING AND PATHOLOGICAL ASPECTS OF MAMMARY LYMPHOMAS SECONDARY TO MALIGNANT T- CELL CUTANEOUS LYMPHOMAS." Medico Oncology 2, no. 1 (May 25, 2021): 45–54. http://dx.doi.org/10.52701/monc.2021.v2i1.27.

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Primary cutaneous lymphomas rank as the second most common clinical form of extranodal non-Hogdkin malignant lymphomas. Among non-Hodgkin malignant skin T-cell lymphomas, Mycosis Fungoides (MF) is the most frequent clinical occurence. The MF lymphoma originates in skin-homing helper T-cells, which express the CD4 + marker, showing chronic evolution, with recurrent lesions. In advanced stages, patients with Mycosis Fungoides may experience severe/extensive skin lesions or extracutaneous localizations of the disease. The secondary breast lymphoma is more common in non-Hodgkin malignant lymphoma than in Hodgkin lymphoma. Among the mammographic characteristics of breast lymphoma we mention: oval or round tumor mass, with well-defined or indistinct margins, absence of intratumoral calcifications, presence of intramammary lymph nodes, supra-adjacent skin thickening and lymphedema that causes diffuse increase in breast density. The ultrasound features of breast lymphoma run as follows: it is oval or round in shape, with well-defined or indistinct margins, which in Doppler ultrasound are identified as hypervascularized masses. The description of the imaging features of mammary lymphomas secondary to cutaneous T-cell lymphomas is required before performing the breast core-needle biopsy.

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Viegas, Carla S. B., Marjolein Herfs, Marta S. Rafael, José L. Enriquez, Alexandra Teixeira, Inês M. Luís, Cynthia M. R. van ‘t Hoofd, et al. "Gla-Rich Protein Is a Potential New Vitamin K Target in Cancer: Evidences for a Direct GRP-Mineral Interaction." BioMed Research International 2014 (2014): 1–14. http://dx.doi.org/10.1155/2014/340216.

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Gla-rich protein (GRP) was described in sturgeon as a new vitamin-K-dependent protein (VKDP) with a high density of Gla residues and associated with ectopic calcifications in humans. Although VKDPs function has been related withγ-carboxylation, the Gla status of GRP in humans is still unknown. Here, we investigated the expression of recently identified GRP spliced transcripts, theγ-carboxylation status, and its association with ectopic calcifications, in skin basal cell and breast carcinomas. GRP-F1 was identified as the predominant splice variant expressed in healthy and cancer tissues. Patterns ofγ-carboxylated GRP (cGRP)/undercarboxylated GRP (ucGRP) accumulation in healthy and cancer tissues were determined by immunohistochemistry, using newly developed conformation-specific antibodies. Both GRP protein forms were found colocalized in healthy tissues, while ucGRP was the predominant form associated with tumor cells. Both cGRP and ucGRP found at sites of microcalcifications were shown to havein vitrocalcium mineral-binding capacity. The decreased levels of cGRP and predominance of ucGRP in tumor cells suggest that GRP may represent a new target for the anticancer potential of vitamin K. Also, the direct interaction of cGRP and ucGRP with BCP crystals provides a possible mechanism explaining GRP association with pathological mineralization.

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Sukumaran, Sukesh, and Vini Vijayan. "Abatacept in the Treatment of Juvenile Dermatomyositis-Associated Calcifications in a 16-Year-Old Girl." Case Reports in Rheumatology 2020 (May 28, 2020): 1–4. http://dx.doi.org/10.1155/2020/4073879.

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Calcinosis is a feared complication of JDM that may be seen in up to 40% of children with JDM. It is associated with negative impact on the patients’ quality of life due to weakness, functional disability, joint contractures, muscle atrophy, skin ulcers, and secondary infections. Calcinosis can present as superficial nodules or plaques, larger nodular deposits extending into deeper tissue layers, accumulation of calcifications along the fascial planes of muscles or tendons, or an exoskeleton of calcium leading to limitations in mobility and joint contractures. Currently, there are no known effective treatments for calcinosis and current therapy is based on anecdotal retrospective studies and cases series. We report the case of a child with JDM-associated calcinosis with extensive intramuscular calcifications who failed conventional therapies but demonstrated improvement as evident by decrease in calcinosis and improved physical function with use of abatacept. We found that use of abatacept was associated with improvement in functional outcome and recurrence did not occur. This case suggests use of abatacept as a safe and effective treatment option for calcinosis due to JDM. Furthermore, large-scale clinical studies are needed to validate our findings and to evaluate the long-term outcomes.

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Bahar, Gideon, Daniel Mimouni, Meora Feinmesser, Michael David, Aharon Popovzer, and Raphael Feinmesser. "Subtotal Parathyroidectomy: A Possible Treatment for Calciphylaxis." Ear, Nose & Throat Journal 82, no. 5 (May 2003): 390–93. http://dx.doi.org/10.1177/014556130308200516.

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Calciphylaxis is a rare disorder in patients with chronic renal failure that is characterized by ischemic necrotic skin lesions. The prognosis is grave and mortality is high (80%). The precise mechanism of calciphylaxis is still unknown, but in addition to chronic renal failure, elevated parathyroid hormone levels appear to play a role. The role of parathyroidectomy in treating affected patients is questionable. In this article, we describe the case of a patient with chronic renal failure who developed rapidly progressive subcutaneous calcifications and ulcerations in the lower extremities. These lesions regressed following subtotal parathyroidectomy. We also review the literature on calciphylaxis, with a focus on treatment options.

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Rathore, Farooq A., Saeed B. Ayaz, and Sahibzada N. Mansoor. "Ochronotic Arthropathy: Two Case Reports from a Developing Country." Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders 9 (January 2016): CMAMD.S31560. http://dx.doi.org/10.4137/cmamd.s31560.

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Alkaptonuria is a rare inborn error of metabolism, which is classified as an orphan disease. It is due to the lack of an enzyme homogentisate 1,2-dioxygenase, which results in an accumulation of homogentisic acid in different areas of the body, including sclera, skin, cardiac valves, articular cartilage of the large joints and intervertebral disks. We present two cases of alkaptonuria resulting in ochronotic arthropathy with advanced secondary generalized osteoarthritis, intervertebral disk calcifications, skin and scleral pigmentation. In these case reports, both patients had symptoms for >10 years before being diagnosed. Conservative management in the form of high-dose ascorbic acid, exercises, and gait aids was offered to both of them, which resulted in some symptomatic improvement in the first case, while the second case was lost to follow-up. Alkaptonuria is a rare disease, and although it does not clearly impact mortality, early diagnosis may improve the quality of life.

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Roka, Yam Bahadur. "Sturge Weber syndrome." Nepal Journal of Neuroscience 16, no. 2 (October 17, 2019): 46–49. http://dx.doi.org/10.3126/njn.v16i2.25954.

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Sturge-weber syndrome is a type of neurocutaneous syndrome/ neurooculo cutaneous/ phakomatoses that is characterized by facial capillary Port Wine stain, leptomeningealangioma and glaucoma with a incidence of 1 per 20-50,000 live births. A case is reported that presented to the outpatient clinic with discharging wound over the left side of his head for a week. On examination he had a large left facial PW stain involving all the divisions of the Trigeminal nerve. Further examination revealed he had history of partial seizures since last 10 years with incomplete and irregular treatment. He also had right sided hemiatrophy of the limbs along with medial gaze deviation of the left eyeball. Skull skiagram was done outside which revealed calcifications in his left hemisphere and CT was then advised for his headache and seizure that revealed Left hemispheric Tram track calcifications along with cerebral atrophy and loss of cortical volume. EEG was unremarkable. He was managed with antibiotics for the scalp wound and discharged with Leveteracetam 1000 mg daily dose and asked to attend eye hospital for the reduced vision. With the PW stain, skin nodules, eye findings and the radiological features he was diagnosed as SWS and counseled for regular follow up, use of anti-epileptic medications, probable side effects and surgery for eye abnormalities.

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Schnur, Jack, Hadeer Sinawe, Athina Lidia Yoham, and Damian Casadesus. "Vascular calcifications and calciphylaxis in a patient on concurrent haemodialysis and Coumadin therapy." BMJ Case Reports 14, no. 3 (March 2021): e240310. http://dx.doi.org/10.1136/bcr-2020-240310.

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Calciphylaxis is a rare life-threatening condition, with calcification of small and medium-sized vessels leading to skin necrosis. It has a high morbidity and mortality, and most of the patients die from wound superinfection and sepsis. A 48-year-old man with a history of end-stage renal disease on haemodialysis and Coumadin therapy for venous thromboembolism presented with pulmonary oedema after missing two haemodialysis treatment. At examination, he had bilateral lower extremity dark brown, possibly necrotic, painful ulcers. He was diagnosed with calciphylaxis and treated with sevelamer hydrochloride, low calcium dialysate and sodium thiosulfate with haemodialysis. He received daily wound care with topical collagenase. After daily wound care treatment for 4 months, the patient’s ulcers completely healed. The patient had been followed for 8 months, which included 29 additional readmissions, 3 admissions related to bacteraemia and 26 admissions with the diagnosis of pulmonary oedema and hyperkalaemia requiring haemodialysis.

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Karim, AKM Bazlul, Mohammad Monirul Islam, Md Alamgir Hossain, and Abu Md Shakurul Alam. "Management of Patient with Sturge-Weber Syndrome: a Case Report." Faridpur Medical College Journal 9, no. 2 (November 12, 2015): 102–4. http://dx.doi.org/10.3329/fmcj.v9i2.25686.

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Sturge-Weber syndrome sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. This is case report of 7 years old mentally disabled boy, with long-standing seizures, with a portwine nevi on the right side of the face along the distribution of trigeminal nerve. Interictal encephalogram showed bilateral slow activity, pronounced in the right hemisphere, with epileptogenic activity in the right fronto-parietal region. Computerized tomography and magnetic resonance imaging showed intracranial calcifications and atrophy of the right hemisphere of brain. Professional counseling and support in addition to drug treatment provide help to patients and their family to overcome their problems and improve the treatment outcome.Faridpur Med. Coll. J. 2014;9(2): 102-104

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Clark, Aurela, Rebecca Leddy, Laura Spruill, and Abbie Cluver. "Pilomatrixoma, a Rare Mimicker of Male Breast Cancer." Journal of Clinical Imaging Science 9 (November 6, 2019): 46. http://dx.doi.org/10.25259/jcis_64_2019.

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Pilomatrixoma or calcifying epithelioma of Malherbe is a benign skin tumor arising from the hair follicle; breast occurrence is considered a rarity. Clinically presenting as a palpable abnormality and with both benign and malignant mammographic and sonographic features, it can be easily misdiagnosed as a breast neoplasm. We report a very rare case of pilomatrixoma of the male breast in a 36-year-old male presenting with a firm, superficial nodule in the upper outer quadrant. Though the sonographic trifecta of imaging features (shape- margins-orientation/oval, circumscribed mass, parallel to the skin) is consistent with a benign lesion, a histologic diagnosis was warranted based on its most suspicious feature of internal pleomorphic calcifications. Pathologic diagnosis revealed the uncommon benign entity of pilomatrixoma in the male breast. Our patient was recommended for surgical excision based on current literature recommendations for management in most reports of pilomatrixoma. One alternative recommendation presented in a single report of pilomatrixoma in the breast supported follow-up imaging based on benign imaging characteristics.

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Ilinca, Andreea, Elisabet Englund, Sofie Samuelsson, Katarina Truvé, Efthymia Kafantari, Nicolas Martinez-Majander, Jukka Putaala, Claes Håkansson, Arne G. Lindgren, and Andreas Puschmann. "MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor." Neurology Genetics 7, no. 1 (January 21, 2021): e548. http://dx.doi.org/10.1212/nxg.0000000000000548.

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ObjectiveTo describe a possible novel genetic mechanism for cerebral small vessel disease (cSVD) and stroke.MethodsWe studied a Swedish kindred with ischemic stroke and intracerebral hemorrhage, tremor, dysautonomia, and mild cognitive decline. Members were examined clinically, radiologically, and by histopathology. Genetic workup included whole-exome sequencing (WES) and whole-genome sequencing (WGS) and intrafamilial cosegregation analyses.ResultsFifteen family members were examined clinically. Twelve affected individuals had white matter hyperintensities and 1 or more of (1) stroke episodes, (2) clinically silent lacunar ischemic lesions, and (3) cognitive dysfunction. All affected individuals had tremor and/or atactic gait disturbance. Mild symmetric basal ganglia calcifications were seen in 3 affected members. Postmortem examination of 1 affected member showed pathologic alterations in both small and large arteries the brain. Skin biopsies of 3 affected members showed extracellular amorphous deposits within the subepidermal zone, which may represent degenerated arterioles. WES or WGS did not reveal any potentially disease-causing variants in known genes for cSVDs or idiopathic basal ganglia calcification, but identified 1 heterozygous variant, NM_004672.4 MAP3K6 c.322G>A p.(Asp108Asn), that cosegregated with the disease in this large family. MAP3K6 has known functions in angiogenesis and affects vascular endothelial growth factor expression, which may be implicated in cerebrovascular disease.ConclusionsOur data strongly suggest the MAP3K6 variant to be causative for this novel disease phenotype, but the absence of functional data and the present lack of additional families with this disease and MAP3K6 mutations still limit the formal evidence for the variant's pathogenicity.

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Limninart, Narisara, Jennifer A. Harvey, Katherine J. Schultz, Anne M. Mills, Mary Margaret B. Noland, Anneke T. Schroen, and Carrie M. Rochman. "“What Do You Mean It’s Not Cancer?” A Review of Autoimmune and Systemic Inflammatory Diseases Involving the Breast." Journal of Breast Imaging 3, no. 5 (May 28, 2021): 612–25. http://dx.doi.org/10.1093/jbi/wbab029.

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Abstract Autoimmune and systemic inflammatory diseases represent a heterogeneous group of immune-mediated conditions with a wide range of clinical presentations and various affected organs. Autoimmune diseases can present in the breast as localized disease or as part of systemic involvement. Although breast involvement is uncommon, the spectrum of imaging findings can include breast masses, axillary adenopathy, calcifications, and skin changes, the appearance of which can mimic breast cancer. Common etiologies include diabetic mastopathy, systemic lupus erythematosus, scleroderma, rheumatoid arthritis, idiopathic granulomatous mastitis, sarcoidosis, and Immunoglobulin-G4 related mastopathy. This educational review will present multimodality imaging findings of breast manifestations of systemic inflammatory and autoimmune diseases and coexisting complications. It will also review how these disorders may affect breast cancer risk and breast cancer treatment options, including radiation therapy.

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Yen, Paul, and Cynthia Verchere. "Donor Site Calcification and Deformation Following Microtia Repair in a Pediatric Patient With Mosaic Trisomy 22." Plastic Surgery Case Studies 5 (January 1, 2019): 2513826X1983172. http://dx.doi.org/10.1177/2513826x19831721.

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A microtia, or small or abnormally formed pinna, is an uncommon congenital abnormality of the external ear which can present as an isolated defect or as part of an underlying clinical syndrome. External ear reconstruction is a possibility, with either an autologous or non-autologous framework. The Nagata type of autologous reconstruction is a multistage process whereby costal cartilage, temporoparietal fascia, and a full thickness skin graft are used to form a new pinna. Here, we present the unique case of a young female born with mosaic trisomy 22, an extremely rare genetic condition, and a right-sided microtia. Between the first and second stages of her reconstruction, an anterior chest wall deformation was observed, coupled with unusual dystrophic calcifications over the cartilage near the ribs and sternum.

Journal articles on the topic 'Skin calcifications'

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