MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face / 대한피부과학회지
Korean Journal of Dermatology
;
: 381-383, 2015.
Article
in Korean
| WPRIM
| ID: wpr-206795
ABSTRACT
MIDAS syndrome (microphthalmia-dermal aplasia-sclerocornea) is an X-linked dominant genetic disease. In most patients, the unbalanced translocation or deletion of the X chromosome short-arm 22.3 band is observed. This disease characteristically presents as linear atrophy of the skin limited to the face and neck, accompanied by congenital eye disease. A 9-month-old female who had linear skin atrophy on the right side of her chin visited our clinic. She also presented with microphthalmia and sclerocornea on her right eye. Results of a chromosomal study revealed a deletion of the X-chromosome short-arm 22.31 band. Here, we report on this MIDAS syndrome patient with linear skin atrophy on the face.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Atrophy
/
Skin
/
X Chromosome
/
Microphthalmos
/
Chin
/
Eye Diseases
/
Neck
Limits:
Female
/
Humans
/
Infant
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2015
Type:
Article
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