Results 81 to 90 of about 4,843 (250)

Incontinentia pigmenti with neurologic and oculodental disorders

Indian Journal of Paediatric Dermatology, 2016
Incontinentia pigmenti is a genodermatosis with X-linked dominant inheritance, characterized by cutaneous, neurologic, ophthalmologic, and dental abnormalities with a pattern suggestive of somatic mosaicism.
Jorge Arturo Avina Fierro, Daniel A Hernandez Avina   +1 more
doaj   +1 more source

Fibropapilomatosis oral múltiple como manifestación inicial de Síndrome de Cowden: caso clínico [PDF]

, 2006
El síndrome de Cowden es una infrecuente enfermedad hereditaria englobada dentro de las poliposis gastrointestinales de tipo hamartomatoso. Se caracteriza por asociar anomalías cutaneomucosas y por la extraordinaria tendencia a desarrollar neoplasias ...
Capitán Cañadas, L.M., Durán Moreno, David, Labrot Moleón, I.L., Martínez Castillo, S.L., Salinas Sánchez, J.   +4 more
core   +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

Brooke–Spiegler Syndrome With Simultaneous Occurrence of Cylindroma, Spiradenoma, and Trichoepithelioma: A Rare Case With Malignant Progression

Clinical Case Reports, Volume 13, Issue 12, December 2025.
ABSTRACT Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disorder characterized by multiple adnexal tumors. Malignant transformation is uncommon, and the simultaneous occurrence of cylindroma, spiradenoma, and trichoepithelioma with progression to basal cell carcinoma (BCC) has rarely been documented.
Parastou Gorovanchi, Mohammed Busehail, Ehsan Emami, Masooma Yaqoob, Mahsa Faramin Lashkarian, Nima Khalili, Nima Eftekhari, Sepideh Hadimaleki, Bahareh Mehramouz   +8 more
wiley   +1 more source

Epidermolysis bullosa simplex with mottled pigmentation: a family report and review [PDF]

, 2013
Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members.
Colmenero, Isabel, Echeverría García, Begoña, Escámez Toledano, María José, González Enseñat, María A., Hernández, Ángela, Mascaró, José M., Río Nechaevsky, Marcela del, Terrón, Ana, Torrelo Fernández, Antonio, Vicente, Asunción   +9 more
core   +3 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

“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

Italian Journal of Pediatrics
Background Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma.
May El Hachem, Andrea Diociaiuti, Giovanna Zambruno, Tonia Samela, Francesca Ferretti, Claudia Carnevale, Renata Linertová, Christine Bodemer, Dédée F. Murrell, Damiano Abeni   +9 more
doaj   +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  

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