MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face / 대한피부과학회지
Korean Journal of Dermatology
;
: 381-383, 2015.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Atrofia
/
Piel
/
Cromosoma X
/
Microftalmía
/
Mentón
/
Oftalmopatías
/
Cuello
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Año:
2015
Tipo del documento:
Artículo
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