Results 41 to 50 of about 171 (136)

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

PROTOPORFIRIA ERITROPOIÉTICA – Caracterização de uma Família Portadora de uma Nova Mutação no Gene FECH

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, Alberto Mota, Teresa Baudrier, Olga Ferreira, Filipe Trigo, Rita Cerqueira, Aida Palmeiro, Purificação Tavares, Filomena Azevedo   +8 more
doaj   +1 more source

Les dysplasies folliculaires chez le chien : synthèse des données actuelles et étude rétrospective sur vingt cas [PDF]

, 2004
Les dysplasies folliculaires canines forment un groupe de génodermatoses assez rares : l'alopécie des robes diluées, la dysplasie folliculaire des poils noirs, l'alopécie récurrente des flancs, et la dysplasie folliculaire sensus stricto.
Cauchois, Marie
core  

Bullae and Scales in a Newborn

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Dima Jeha, Andre Megarbane, Hala Megarbane   +3 more
wiley   +1 more source

Identification of a PORCN c.1093C>T (p.Arg365Trp) Variant in a 12‐Year‐Old Girl With Goltz–Gorlin Syndrome

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We report the first female case of Goltz–Gorlin syndrome with the PORCN c.1093C>T (p.Arg365Trp) variant, previously described only in a male with Klinefelter syndrome. This case expands the known phenotypic and genotypic spectrum of FDH.
Anna Bolzon, Francesca Caroppo, Lisa Passaglia, Francesca Boaretto, Leonardo Salviati, Anna Belloni Fortina   +5 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, Adeíza de Alencar Branco, Elaine Carvalho, Francisco Eduardo Lima, José Roberto Almeida, Josemir Belo dos Santos, Luisa Villa, Sílvia Helena Rodrigues, Roberta Siqueira, Tatiana De Perreli   +9 more
doaj   +1 more source

Exploring What Constitutes a Good‐Quality Referral for a Potentially Malignant Skin Lesion: A Modified Delphi Consensus

International Journal of Dermatology, EarlyView.
Kristina Nazzicone, Erin Dahlke, Linden Head, Thomas Herzinger, Lourdes Ramírez Hobak, Yuanshen Huang, Menelaos Konstantinidis, Glykeria Martou, Sonja Molin, Douglas R. McKay, Yuka Asai   +10 more
wiley   +1 more source

Interdisciplinary Approach in Pediatric Patients With Recessive Dystrophic Epidermolysis Bullosa: Experience From the Dermatology Service and the Palliative Care and Complex Chronic Patient Team at Sant Joan de Déu Hospital (Barcelona, Spain)

Journal of Evaluation in Clinical Practice, Volume 32, Issue 1, February 2026.
ABSTRACT Background and Aims Epidermolysis bullosa is a rare genetic disorder causing extreme mucocutaneous fragility, requiring specialized, multidisciplinary care. Integrating palliative care into Epidermolysis bullosa management has proven beneficial in symptom control and psychosocial support.
Juan Manuel Martínez‐Ripoll, Marta García‐Domingo, Yolanda M. De la Fuente Robles   +2 more
wiley   +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, Zilda Najjar Prado de Oliveira, Javier Miguelez   +2 more
doaj   +1 more source

Caractérisation des défauts cérébraux chez le modèle murin d'Incontinentia Pigmenti, maladie génétique liée à la voie NF-κB [PDF]

, 2016
Incontinentia pigmenti (IP, OMIM # 308300) is an X-linked genetic disease which is lethal in boys. In girls, it causesa skin disease that begins soon after birth and evolves along a complex sequence of events involving inflammation ...
Senegas, Anna
core   +2 more sources