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Cutaneous findings and treatment responses of lipoid proteinosis patients.
Int J Dermatol
January 2025
Department of Dermatology, Şanlıurfa Training and Research Hospital, Şanlıurfa, Turkey.
Article Synopsis
- Lipoid proteinosis (LP) is a rare genetic disorder that leads to the buildup of material in various tissues, causing skin and mucosal changes; this study aimed to assess various skin symptoms and treatment outcomes in LP patients.
- 41 patients were included in the study, with diagnoses confirmed either through gene mutation analysis or clinical examination; most patients showed skin thickening and a variety of other dermatological features.
- Treatments included acitretin, which showed no effect, and systemic steroids, which effectively resolved blisters, highlighting the need for further research on treatment efficacy in LP.
A founder deletion in ECM1 of 1163 bp causes lipoid proteinosis in the southeast region of Turkiye.
Am J Med Genet A
October 2024
Department of Dermatology, Sanliurfa Education and Research Hospital, Sanliurfa, Turkey.
Article Synopsis
- Lipoid proteinosis (LP) is a genetic disorder marked by the buildup of hyaline-like material in the skin and respiratory areas, leading to symptoms like hoarseness and skin lesions, primarily caused by mutations in the ECM1 gene.
- A study of 20 patients from nine families, mainly from Şanlıurfa, Turkey, revealed typical LP symptoms, with one patient showing an unusual lesion not commonly associated with LP.
- Genetic analysis identified three variants in the ECM1 gene, including a significant 1163 base-pair deletion affecting 18 patients, suggesting a founder effect within the Şanlıurfa population, and highlighting the need for copy number variation analysis in LP diagnosis.
Dermoscopic Features of Atrophoderma Vermiculatum; Differentiation from its Clinical Look Alike.
Indian Dermatol Online J
July 2023
Department of Dermatology, Venereology, and Leprology, AIIMS Bilaspur, Himachal Pradesh, India.
Nevus comedonicus syndrome: A systematic review of the literature.
Pediatr Dermatol
March 2021
Department of Dermatology, James Paget University Hospital, Great Yarmouth, UK.
Nevus comedonicus (NC) syndrome is a condition first identified in 1978. The cause of NC syndrome has been recently proven to be a gain-of-function, mosaic postzygotic mutation of the NEK9 gene. A systematic review of the literature retrieved 43 well-established cases of NC syndrome reported so far.
View Article and Find Full Text PDFBilateral Facial Apocrine Fibrosing Hamartoma Mimicking Microcystic Adnexal Carcinoma.
Am J Dermatopathol
October 2019
Dermatopathology Department, Dermatopathologie Friedrischafen/Bodensee, Friedrischafen, Germany.
An otherwise healthy 50-year-old woman was evaluated for the presence of 2 erythematous, and slightly pruritic plaques, involving both cheeks for 30 years. Left-side skin biopsy showed a diffuse proliferation of ductal structures horizontally arranged and involving the reticular dermis that resembled tubular adenoma embedded in a sclerotic stroma and surrounded by a peculiar periductal desmoplasia. Nuclear atypia or mitosis was not found.
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