Abstract

ACOSTA, JC; MOTTA, A  and  PRIETO, JC. Focal Dermal Hypoplasia (Goltz's Syndrome): Wide Phenotypic Variability. Rev. argent. dermatol. [online]. 2009, vol.90, n.4, pp.00-00. ISSN 1851-300X.

The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease.  It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

Keywords : Focal Dermal Hypoplasia; X-Linked Dominant; Papillomatosis; Skin Atrophy.

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