Results 81 to 90 of about 4,685 (212)

New and recurrent AAGAB mutations in punctate palmoplantar keratoderma [PDF]

, 2014
Punctate palmoplantar keratoderma type I (PPPK1; also known as Buschke-Fischer-Brauer type; OMIM 148600) is an autosomal dominant disorder of keratinization, characterised by multiple hyperkeratotic lesions on palms and soles that usually start in early ...
Boonen, S. E., Gregersen, P. A., Hohl, D., Huber, M., McLean, W. H. I., Pohler, Elizabeth, Ramsing, M., Smith, F. J., Sommerlund, M., Zamiri, M.   +9 more
core   +2 more sources

Mimicking Darier Disease In Vitro: A Human Epidermal Organoid Approach

Experimental Dermatology, Volume 34, Issue 12, December 2025.
ABSTRACT Darier disease (DD) is a rare genetic disorder caused by mutations in the ATP2A2 gene, resulting in calcium dysregulation and impaired keratinocyte adhesion. Due to the paucity of suitable models, understanding the molecular mechanisms of DD has been challenging.
Rishika Agarwal, Erika Parente, Simon M. Müller, Elisabeth A. Kappos, Tanja Dittmar, Michael Kunz, Roni P. Dodiuk‐Gad, Nisim Asayag, Johann E. Gudjonsson, Beda Mühleisen, Emmanuel Contassot, Alexander A. Navarini   +11 more
wiley   +1 more source

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

Restrictive dermopathy with massive thrombosis: a previously uncreognized finding [PDF]

, 2009
Restrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles ...
Chitayat, D, Chung, BHY, Hinek, A, Shannon, P, Teitelbaum, R   +4 more
core  

Perceptions of a Group of Experts on the Integration of Artificial Intelligence in the Management of Atopic Dermatitis

JEADV Clinical Practice, Volume 5, Issue 1, Page 278-280, March 2026.
Jean‐Francois Stalder, Valeria Aoki, Helène Aubert, Sebastien Barbarot, Chia‐Yu Chu, Mette Deleuran, Lawrence Eichenfield, May El Hachem, Laurent Elgard, Raquel Leão Orfali, Ana Mosca, Olivia Negris, Marketa Saint Aroman, Pranvera Sulejmani, Alain Taieb, Antonio Torrelo, David Troya, Magdalena Trzeciak, Christian Vestergaard, Andreas Wollenberg, Peter Lio   +20 more
wiley   +1 more source

Two male patients with incontinentia pigmenti [PDF]

, 2010
Background. Incontinentia pigmenti (IP) is a rare, complex, X-linked genodermatosis in which skin changes are combined with defects of other organs. It appears almost exclusively in females and is usually lethal in men.
Medenica Ljiljana, Minić Snežana, Novotny Gerd E.K., Obradović Miljana, Stefanović Bratislav, Trpinac Dušan   +5 more
core   +1 more source

Bloch-Sulzberger syndrome: a rare genodermatosis

International Journal of Contemporary Pediatrics, 2023
A 6 month old female child was admitted with complaints of delayed developmental milestones and multiple hyperpigmented patches on the trunk, limbs, axilla and groin. At birth the baby had diffuse vesciculo-bullous rash. Currently the child has global developmental delay with seizures with investigations suggesting the same.
openaire   +1 more source

Skin Necrosis in Children: Genodermatosis

Cristina Has
exaly   +3 more sources

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Edwin Cuperus, Michel van Geel, Virginie JM Verhoeven, Suzanne M Koudijs, Gerharda H Boerman, Angela M Tjiam, N Margreth van der Lugt, Suzanne GMA Pasmans   +7 more
wiley   +1 more source

Disorders of the Skin and Oral Mucosa [PDF]

, 2003
Kao u bilo kojoj drugoj grani medicine, tako i u dermatologiji dijagnoza se postavlja na temelju potanke anamneze, kliničkoga pregleda i praćenja promjena na koži i sluznicama.
Ivana Nola, Mirna Šitum
core   +1 more source