MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face.
- Author:
Seul Ki LIM
1
;
Young LEE
;
Young Joon SEO
;
Jeung Hoon LEE
;
Myung IM
Author Information
1. Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea. im1177@hanmail.net
- Publication Type:Case Report
- Keywords:
Dermal aplasia;
Microphthalmia;
Microphthalmia with linear skin defects;
MIDAS syndrome;
Sclerocornea
- MeSH:
Atrophy*;
Chin;
Eye Diseases;
Female;
Humans;
Infant;
Microphthalmos;
Neck;
Skin*;
X Chromosome
- From:Korean Journal of Dermatology
2015;53(5):381-383
- CountryRepublic of Korea
- Language:Korean
-
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.
