Results 71 to 80 of about 8,727 (222)

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death [PDF]

, 2018
Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c.134G>A (p.G45E), in two unrelated patients and investigated its cellular ...
Alboulshi, A. K., Broers, M. R., Brouns, G. H., Coull, Barry. J., Easton, J. A., Kamps, M. A. F., Martin, P. E., Oji, V., van Geel, M., van Steensel, M. A. M.   +9 more
core   +5 more sources

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Olmsted Syndrome: A Case Report of Two Brothers

Indian Journal of Paediatric Dermatology
Olmsted syndrome is a rare disease characterized by severe mutilating transgradient keratoderma with prominent periorificial hyperkeratosis. A total of 73 cases have been reported worldwide.
Surendra Singh Bhati, Anmol Bhargava, Pramey Deshpande, Swati Sahu   +3 more
doaj   +1 more source

Carvajal syndrome: a brief overview and clinical case of cardiomyopathy, associated with compound heterozygous mutations of the desmoplakin gene

Российский кардиологический журнал, 2018
Mutations in the genes encoding desmosomal proteins cause a wide range of diseases associated with abnormalities of the skin, hair and heart. In 45-50% these mutations determine the development of arrhythmogenic right ventricular cardiomyopathy.
T. G. Vaikhanskaya, L. N. Sivitskaya, T. V. Kurushko, D. P. Ermakovich, E. V. Zasim, N. G. Danilenko   +5 more
doaj   +1 more source

Palmo-plantar keratoderma with debilitating pruritus

Indian Journal of Paediatric Dermatology, 2020
We describe two siblings with diffuse, mutilating palmo-plantar keratoderma suggestive of Olmsted syndrome, with significantly compromised quality of life in the form of inability to walk and grasp objects.
Vandana Kataria, Chander Grover, Deepika Pandhi   +2 more
doaj   +1 more source

Arrhythmogenic right ventricular cardiomyopathy: From pathophysiology to diagnosis and advances in management [PDF]

, 2017
Our understanding of arrhythmogenic right ventricular cardiomyopathy (ARVC) has advanced considerably over the past 30- 40 years. This is an inherited cardiomyopathy with complicated genetic inheritance and variable penetrance.
Bastiaenen, R, Deyell, MW, Krahn, AD
core   +2 more sources

Palmoplantar keratoderma with keratoconus

Middle East African Journal of Ophthalmology, 2018
Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract.
Gupta, Ved Prakash, Chaudhari, Isha
openaire   +3 more sources

Delayed Diagnosis of Sézary Syndrome: Lessons From a Psoriasiform Presentation

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Pruritic erythroderma is not always psoriasis. Resistant cases require a broad evaluation for cutaneous lymphoma. Early, timely diagnosis prevents disease progression, improves outcomes, and enhances quality of life, highlighting the need for re‐evaluation when conventional treatments fail.
Sudhan Neupane, Anu Neupane, Sajjad Ahmed Khan, Huma Kausar   +3 more
wiley   +1 more source

Keratoderma-Like T-Cell Dyscrasia: A Case Report

Case Reports in Dermatology
Introduction: Cutaneous T-cell dyscrasia (CTCD) encompasses a heterogeneous group of T-cell infiltrates, often clonal and epitheliotropic. While the etiology remains unclear, certain medications, including statins, have been linked to cutaneous T-cell ...
Asem Shadid, Sukaina Al Haddad, Rua’a Alharithy, Tariq J. Al-Zaid   +3 more
doaj   +1 more source

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]

, 1996
6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia, Martínez Mir, Amalia, Lam, H., Tadin-Strapps, M., Kljuic, Ana, Christiano, Angela M.   +5 more
core   +1 more source