Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지
Korean Journal of Dermatology
;
: 891-895, 2012.
Artículo
en 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Piel
/
Vejiga Urinaria
/
Divertículo
/
Hipopigmentación
/
Adenosina Trifosfatasas
/
Tejido Conectivo
/
Cobre
/
Cutis Laxo
/
Diagnóstico Precoz
/
Cabello
Tipo de estudio:
Estudio diagnóstico
/
Estudio de tamizaje
Límite:
Humanos
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Año:
2012
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS