Korean J Dermatol.  2015 Jun;53(5):381-383.

MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face

Affiliations
  • 1Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea. im1177@hanmail.net

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.

Keyword

Dermal aplasia; Microphthalmia; Microphthalmia with linear skin defects; MIDAS syndrome; Sclerocornea

MeSH Terms

Atrophy*
Chin
Eye Diseases
Female
Humans
Infant
Microphthalmos
Neck
Skin*
X Chromosome
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