Results 111 to 120 of about 4,685 (212)

Genodermatosis [PDF]

, 2020
openaire   +1 more source

Rare Homozygous CTSC Deletion in Siblings with Papillon-Lefevre Syndrome: A Case Report

BioMed Target Journal
Papillon-Lefevre syndrome (PLS) is an extremely rare autosomal recessive genodermatosis caused by mutations in the cathepsin C (CTSC) gene. It is characterized by palmoplantar keratoderma (PPK), periodontopathy, intracranial calcifications, and recurrent
Fatima AlQaydi, Mohamed Ahmed
doaj   +1 more source

Eritroqueratodermia variabilis

Revista de la Asociación Colombiana de Dermatología y Cirugía Dermatológica, 2006
La eritroqueratodermia variabilis (OMIM 133200) es una genodermatosis rara descrita en Holanda a principios del siglo pasado, caracterizada por una distintiva combinación de dos aspectos morfológicos: máculas eritematosas migratorias y placas ...
Fabián Andrés Hernández Velasco, Germán Santacoloma Osorio   +1 more
doaj  

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex [PDF]

, 2017
PLEC, the gene encoding the cytolinker protein plectin, has eight tissue-specific isoforms in humans, arising by alternate splicing of the first exon. To date, all PLEC mutations that cause epidermolysis bullosa simplex (EBS) were found in exons common ...
Castañón, Maria J., Gostyńska, Katarzyna B., Jonkman, Marcel F., Lang, Kristin Kernland, Lemmink, Henny, Nijenhuis, Miranda, Pas, Hendri H., Pasmooij, Anna M.G., Wiche, Gerhard   +8 more
core  

Clinical Classification of Mosaicism

JEADV Clinical Practice
The term ‘mosaic skin disorders’ encompasses conditions in which the skin is involved by mosaic mutations, including epidermal nevi, vascular nevi, connective tissue nevi and lipomatous nevi, among others.
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
doaj   +1 more source

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity [PDF]

, 2017
Clouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects.
Barbe, Michael T., Blanchet-Bardon, Claudine, Bruzzone, Roberto, Charollais, Anne, Essenfelder, Guilherme Munhoz, Lamartine, Jérôme, Meda, Paolo, Waksman, Gilles   +7 more
core  

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P, Brasileiro, A, Diamantino, F, Paiva Lopes, MJ   +3 more
core  

Michelin tyre baby: A rare genodermatosis [PDF]

Indian Pediatrics, 2013
Dhulika, Dhingra, G R, Sethi, Mukta, Mantan   +2 more
openaire   +2 more sources

Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation [PDF]

, 2017

core   +1 more source

Genodermatosis [PDF]

, 2019
openaire   +1 more source