Results 51 to 60 of about 5,055 (182)

Erythrokeratodermia‐Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions

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, Ryland D. Mortlock, Caroline Echeandia‐Francis, Jing Zhou, Chao Xing, Nnenna G. Agim, Keith A. Choate, Donald A. Glass II   +7 more
wiley   +1 more source

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

Clinical Case Reports
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1).
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
doaj   +1 more source

Acroqueratoelastoidosis de Costa: reporte de un caso esporádico

Medicina U.P.B., 2019
La acroqueratoelastoidosis de Costa es una rara genodermatosis autosómica dominante con expresividad variable, que se caracteriza por la presencia de múltiples pápulas hiperqueratósicas en la zona marginal de las manos, los pies o ambas.
Lina María Muñoz Ochoa, Melissa María Velilla Contreras, Jaime Ávila Cárdenas, José Manuel Ríos-Yuil   +3 more
doaj   +1 more source

Palmoplantar keratoderma of Sybert

Dermatology Online Journal, 2003
A 13-year-old boy and a 7-year-old boy, who are brothers, presented with a life-long history of erythema, hyperkeratosis, and desquamation of the hands and feet. Symptoms improved with the use of topical glucocorticoids and keratolytics. PPK of Sybert is characterized by palmoplantar hyperkeratosis with transgrediens, autosomal dominant inheritance ...
Leonard, Aimee L, MD, Freedberg, Irwin M, MD   +1 more
openaire   +4 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

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

Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

Case Reports in Dermatology, 2019
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands.
Rahaf Bukhari, Waseem Alhawsawi, Aisha Ahmad Radin, Hawazin D. Jan, Khalid Al Hawsawi, Marwan Al Ahmadi   +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

[Punctate porokeratotic keratoderma].

Nihon Hifuka Gakkai zasshi. The Japanese journal of dermatology, 1991
A 39-year-old woman had numerous keratotic papules on the volar surface of the right palm, both soles, fingers and toes. There were some spiny plugs on the edges of her toes. Histologic examination revealed a cornoid lamella. "Punctate porokeratotic keratoderma" "porokeratosis punctata palmaris et plantaris" refer probably to related conditions ...
M, Kosogabe, J, Tada, J, Arata
openaire   +2 more sources

Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

Indian Dermatology Online Journal, 2016
Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED.
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep   +2 more
doaj   +1 more source