Results 51 to 60 of about 3,963 (177)
Pediatric Dermatology, Volume 43, Issue 2, Page 444-447, March/April 2026.ABSTRACT Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP).
Sepideh Hamzehlou +7 more
wiley +1 more source
Leukoencephalopathy and Keratoderma
Pediatric Neurology Briefs, 1995 A new familial neurocutaneous syndrome consisting of palmoplantar keratoderma (PPK) and adult-onset leukoencephalopathy is reported in four siblings from Hadassah University Hospital, Jerusalem, Israel.
J Gordon Millichap
doaj +1 more source
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 +3 more
wiley +1 more source
Clinical Dermatology ReviewPapillon–Lefevre syndrome is a rare autosomal recessive type of syndromic palmoplantar keratoderma, associated with ectodermal dysplasia. It is also known as keratoderma with periodontitis.
Sanjanaa Srinivasa +4 more
doaj +1 more source
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 +10 more
wiley +1 more source
Você conhece esta síndrome? Do you know this Syndrome?
Anais Brasileiros de Dermatologia, 2008 A síndrome de Papillon-Lefèvre ou queratodermia transgressiva com periodontopatia é genodermatose rara, com acometimento cutâneo e dentário. As alterações aparecem por volta do primeiro ano de vida, com queratodermia transgressiva palmoplantar associada ...
Flávia Regina Coeli +4 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
Indian Journal of Dermatology, 2002 Olmsted syndrome is a rare congential palmoplantar keratoderma with progressive periorificial hyperkeratotic lesions, alopecia areata, deafness, lental and nail changes. Only a few cases of this syndrome have been reported so far.
Mukhopadhyay Piyali +3 more
doaj
Dysphagia in a patient with palmoplantar keratoderma [PDF]
Postgraduate Medical Journal, 2001 Abstract A 72 year old man was referred by his general practitioner with a four month history of dysphagia. Physical examination wasunremarkable with the exception of his hands and feet which showed hyperkeratosis on the palms (fig 1) and soles of his feet.
openaire +2 more sources
Aquagenic keratoderma. Two new case reports and a new hypothesis
Indian Dermatology Online Journal, 2014 Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water.
Georgi Tchernev +4 more
doaj +1 more source