Results 61 to 70 of about 6,541 (223)

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

p63 is a key regulator of iRHOM2 signalling in the keratinocyte stress response. [PDF]

, 2018
Hyperproliferative keratinocytes induced by trauma, hyperkeratosis and/or inflammation display molecular signatures similar to those of palmoplantar epidermis.
Arcidiacono, P, Blaydon, DC, Brooke, MA, Chikh, A, Delaney, PJ, Kelsell, DP, Ng, K-E, Tinker, A, Webb, CM, Zhou, H   +9 more
core   +2 more sources

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report

Case Reports in Dermatology, 2017
Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface.
Chanisa Kiatsurayanon, Jinda Rojanamatin, Poonawis Sudtikoonaseth, Kowit Kampirapap, Mingkwan Wichaidit, François Niyonsaba   +5 more
doaj   +1 more source

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

Palmoplantar keratoderma climactericum successfully treated with topical oestrogen

JEADV Clinical Practice
Keratoderma climactericum is characterized by palmoplantar hyperkeratosis developing after the onset of menopause. Although rare, keratoderma climactericum can profoundly impact quality of life and may be refractory to prescription‐strength topical ...
T. E. Norman, O. Obed, A. Chen, S. D. Worswick   +3 more
doaj   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C., Blume-Peytavi, Ulrike, Bourrat, Emmanuelle, Fischer, Judith, Hotz, Alrun, Jonca, Nathalie, Markus, Susanne, Mazereeuw-Hautier, Juliette, Morice-Picard, Fanny, Oji, Vmzenz, Schlipf, Nina, Schoenbuchner, Ines, Stieler, Karola   +12 more
core   +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

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

Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang, Qing Zhao, Hong Liu, Furen Zhang, Zhiqiang Song   +4 more
wiley   +1 more source