MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face / 대한피부과학회지
Korean Journal of Dermatology
;
: 381-383, 2015.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia
/
Pele
/
Cromossomo X
/
Microftalmia
/
Queixo
/
Oftalmopatias
/
Pescoço
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Korean Journal of Dermatology
Ano de publicação:
2015
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS