Hair Abnormality and Cutis Laxa in Menkes Disease / 대한피부과학회지
Korean Journal of Dermatology
;
: 891-895, 2012.
Article
in Korean
| WPRIM
| ID: wpr-130065
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Urinary Bladder
/
Diverticulum
/
Hypopigmentation
/
Adenosine Triphosphatases
/
Connective Tissue
/
Copper
/
Cutis Laxa
/
Early Diagnosis
/
Hair
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2012
Type:
Article
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