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Do you know this syndrome?
被引:2
|作者:
Enei, Maria Leonor
Cassettari, Andrea
Cordova, Sebastian
Torres, Orlando
机构:
关键词:
Keratitis;
Ectodermal Dysplasia;
Ichthyosis;
Deafness;
DEAFNESS KID SYNDROME;
CONNEXIN-26;
CAUSE;
ICHTHYOSIS;
KERATITIS;
MUTATIONS;
D O I:
10.1590/S0365-05962011000400037
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplasia affecting skin, the corneal epithelium and inner ear. Clinical signs consist of erythrokeratodermal plaques on the face and skin folds, usually present from birth, as well as severe and bilateral sensorineural hearing loss and corneal vascularization associated with slow-progressing keratitis which follows skin and hearing changes at puberty. In view of symptoms of deafness, blindness, skin infections and the risk of malignant degeneration, early diagnosis of the syndrome is essential, together with clinical follow-up and genetic counseling.
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页码:819 / 821
页数:3
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