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focal dermal hypoplasia


Definition: a pathologic condition of the skin and, in some cases, the mucosa inherited as an X-linked dominant with in utero lethality in males; characterized by linear areas of dermal atrophy or hypoplasia, herniation of fat through the dermal defects, and papillomas of the mucous membranes or skin; may be associated with digital, ocular, and oral anomalies, mental retardation, and bony striations.

Synonym(s): Goltz syndrome

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.