KMID : 0363220150530050381
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Korean Journal of Dermatology 2015 Volume.53 No. 5 p.381 ~ p.383
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MIDAS Syndrome Presenting with Linear Skin Atrophy on the Face
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Lim Seul-Ki
Lee Young Seo Young-Joon Lee Jeung-Hoon Im Myung
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Abstract
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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.
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KEYWORD
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Dermal aplasia , Microphthalmia , Microphthalmia with linear skin defects , MIDAS syndrome , Sclerocornea
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