Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지
Korean Journal of Dermatology
;
: 891-895, 2012.
Artigo
em Coreano
| WPRIM
| ID: wpr-130080
ABSTRACT
Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of copper-dependent enzymes results in various clinical features, including skin and hair hypopigmentation, progressive neurologic degeneration, bone and connective tissue alterations with soft doughy skin and joint laxity, and vascular abnormalities, including aneurysms and bladder diverticula. Patients have the characteristic hair, which is kinky, colorless or steel-colored, and brittle with cutis laxa. Early diagnosis and treatments are perquisites for improving the clinical outcomes. Herein, we describe a rare case of Menkes disease accompanied by hair abnormality and cutis laxa in a 35-days-old boy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pele
/
Bexiga Urinária
/
Divertículo
/
Hipopigmentação
/
Adenosina Trifosfatases
/
Tecido Conjuntivo
/
Cobre
/
Cútis Laxa
/
Diagnóstico Precoce
/
Cabelo
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2012
Tipo de documento:
Artigo
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