Results 61 to 70 of about 1,347 (192)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Epidermolytic palmoplantar keratoderma of Vorner: re-evaluation of Vorner's original family and identification of a novel keratin 9 mutation

, 2002
In 1901, Hans Voerner observed a family with a diffuse non-transgredient palmoplantar keratoderma of autosomal dominant inheritance. Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this ...
Reis, A., Kuester, W., Hennies, H.C.
core   +1 more source

PATHOPHYSIOLOGY OF THE CYCLICAL EPIDERMOLYTIC PALMOPLANTAR KERATODERMA (EPPK) IN THE KERATIN 9 MOUSE MODEL [PDF]

, 2017
Keratin 9 (KRT9/Krt9) is a type I intermediate filament protein that is constitutively expressed in the suprabasal layer of the thicker and specialized epidermis of the palmoplantar skin. Mutations at the KRT9/Krt9 locus cause epidermolytic palmoplantar
Shen, Joseph YuHung
core  

An Uncommon Presentation of Darier-White Disease with Hystrix-like Palmoplantar Keratoderma

, 2021
Darier-White disease is a relatively common autosomal dominant genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by multiple warty papules coalescing into plaques in the seborrheic areas and by specific histological skin changes ...
Ellenbogen, Eran, Gat, Andrea, Jammal, Anwar, Sprecher, Eli, Pessach, Yakov, Goldberg, Ilan, Martinez, Helena   +6 more
core  

Clinical Study on Palmoplantar Keratoderma [PDF]

, 2012
INTRODUCTION : Palmoplantar keratodermas are a heterogenous group of disorders characterized by hyperkeratosis of palms and soles. They may be inherited or acquired disorders.
Mohanasundari, P S
core  

Next‐generation sequencing detection and characterization of a heterozygous novel splice junction mutation in the 2B domain of KRT1 in a family with diffuse palmoplantar keratoderma [PDF]

Experimental Dermatology, 2015
AbstractDiffuse palmoplantar keratoderma (DPPK) is an autosomal‐dominant genodermatosis characterized by restricted, uniform hyperkeratosis on the palm and sole epidermis. DPPK is normally associated with dominant‐negative mutations in the keratin‐encoding gene, KRT1. We report a heterozygous novel point mutation in the exon 6 splice donor site of KRT1
Santasree, Banerjee, Yunqing, Ren, Tianying, Wei, Zhongwei, Zhou, Ping, Yu, Fenghui, Guan, Xiaonming, Wei, Sheng, Ye, Shaofeng, Yan, Min, Zheng, Michael L, Raff, Ming, Qi   +11 more
openaire   +2 more sources

Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads (PLACK) Syndrome: An Updated Review of Cases and Identification of a Recurrent CAST Variant in Two Patients

Pediatric Dermatology, Volume 42, Issue 6, Page 1239-1247, November/December 2025.
ABSTRACT Peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK) syndrome (OMIM616295) is an exceptionally rare autosomal recessive genodermatosis caused by loss‐of‐function pathogenic variants in the CAST gene, encoding calpastatin.
Fiona Haxho, Richard M. Haber, Janan Mohamad, Ofer Sarig, Eli Sprecher, Renée Perrier, Dana Boctor, Michele Ramien   +7 more
wiley   +1 more source

Hiperqueratose palmo-plantar epidermolítica (Vörner) relato de caso e revisão da literatura Epidermolytic palmoplantar keratoderma (Vörner type) case report and revision of literature

Anais Brasileiros de Dermatologia, 2002
As queratodermias palmo-plantares familiares são doenças pouco comuns. As manifestações clínicas são variadas e exuberantes, atraindo a atenção dos dermatologistas.
Alexandre Bortoli Machado, Rafael Lenzi Tarnowsky, Roberto Moreira Amorim, Jorge José de Souza Filho, Marcelo Rigatti   +4 more
doaj   +1 more source

Mycosis Fungoides, Sézary Syndrome, and Cutaneous B‐Cell Lymphomas: 2025 Update on Diagnosis, Risk‐Stratification, and Management

American Journal of Hematology, Volume 100, Issue 9, Page 1603-1628, September 2025.
ABSTRACT Disease Overview Primary cutaneous lymphomas are a rare and heterogeneous group of extranodal lymphomas that require the integration of clinical and histopathologic data for classification and treatment. Diagnosis Diagnosis and disease classification is based on histopathologic review and immunohistochemical staining of an appropriate skin ...
Alexandra C. Hristov, Trilokraj Tejasvi, Ryan A. Wilcox   +2 more
wiley   +1 more source

Papillon-Lefèvre syndrome with excellent response to risankizumab

Dermatology Reports
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis. It is clinically characterized by diffuse palmoplantar keratoderma (PPK), psoriasiform skin lesions, and rapidly progressive periodontopathy.
Latifah Alibrahim, Sarah Alrashid, Majed Aleissa   +2 more
doaj   +1 more source