Do you know this syndrome? Werner syndrome



Título del documento: Do you know this syndrome? Werner syndrome
Revista: Anais brasileiros de dermatologia
Base de datos: PERIÓDICA
Número de sistema: 000408888
ISSN: 0365-0596
Autors: 1
Institucions: 1Selcuk University, School of Medicine, Konya. Turquía
Any:
Període: Mar-Abr
Volum: 92
Número: 2
Paginació: 275-276
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico, descriptivo
Resumen en inglés Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications
Disciplines Medicina
Paraules clau: Dermatología,
Diagnóstico,
Ulceras dérmicas,
Piernas,
Progeria,
Esclerodermia,
Síndrome de Werner
Keyword: Medicine,
Dermatology,
Diagnosis,
Skin ulcers,
Legs,
Scleroderma,
Werner syndrome
Text complet: Texto completo (Ver HTML)