Results 41 to 50 of about 144 (122)
Update on Approved Therapies for Dystrophic and Junctional Epidermolysis Bullosa
Pediatric Dermatology, Volume 43, Issue S2, Page 20-28, August 2026.ABSTRACT Dystrophic epidermolysis bullosa (DEB) and junctional EB (JEB) are severe, bullous genodermatoses induced by mutations of genes encoding structural skin proteins that disrupt epidermal adhesion. Until recently, treatment was limited to symptomatic care. Since 2022, three therapies – birch triterpenes gel (Filsuvez), beremagene geperpavec‐svdt (
Alberto Pappalardo +5 more
wiley +1 more source
, 2006 International audiencentroductionLa naevomatose basocellulaire ou syndrome des hamartomes basocellulaires est une génodermatose de transmission autosomique dominante caractérisée par des anomalies du développement et une prédisposition aux cancers.
G., Mamelle +11 more
core +2 more sources
‘When diagnostics become prevention’: A patient's perspective on Darier's disease
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Fauve C. A. P. van Veen +2 more
wiley +1 more source
Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2011 A protoporfiria eritropoiética (PPE), é uma genodermatose rara causada, na maioria dos doentes, pela redução da actividade da ferroquelatase (FECH), a última enzima da biossíntese do heme, e consequente acumulação de protoporfirina (PP) em vários tecidos.
Paulo Morais +8 more
doaj +1 more source
Experimental Dermatology, Volume 35, Issue 7, July 2026.ABSTRACT The diagnosis of an ectodermal dysplasia (ED) is often made by dermatologists. Some of the more than 50 distinct ectodermal dysplasias, however, are still largely unknown and their pathogenesis is poorly understood. Since we recently discovered that variants of the Interferon Regulatory Factor 6 (IRF6) gene IRF6 may cause ED, we have further ...
Holm Schneider +7 more
wiley +1 more source
Síndrome de Cowden: relato de um caso Cowden's Syndrome: a new case report
Anais Brasileiros de Dermatologia, 2002 A síndrome de Cowden (SC) ou síndrome de múltiplos hamartomas (SMH) é genodermatose rara de herança autossômica dominante e expressividade variável. É caracterizada por múltiplas lesões hamartomatosas de origem ectodérmica , mesodérmica e endodérmica.
Patrícia de Barros Guimarães +9 more
doaj +1 more source
DERMATOSES FACIALES MODULE D'AUTO-ENSEIGNEMENT [PDF]
, 1978 Problématique Les dermatoses faciales (DF) 'regroupent l'ensemble des affections cutanées siégeant exclusivement OU principalement au visage. Elles occupent une place privilégiée en dermatologie.
ZAZ, TOUFIK
core +1 more source
Diagnóstico pré-natal das genodermatoses Prenatal diagnosis of genodermatoses
Anais Brasileiros de Dermatologia, 2007 O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermólise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15a semana
Maria Carolina de Abreu Sampaio +2 more
doaj +1 more source
A novel variant of Ehlers‐Danlos‐syndrome with COL1A2 mutation
Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 10, Page e837-e838, October 2026.
Johanna Strobl, Peter Maximilian Heil
wiley +1 more source