Reticulolinear aplasia cutis congenita of the face and neck: A distinctive cutaneous manifestation in several syndromes linked to Xp22

A. Zvulunov, L. Kachko, E. Manor, E. Shinwell, R. Carmi

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22 Scopus citations

Abstract

A distinct form of aplasia cutis congenita presenting as linear facial skin defects has been described under a variety of names as Xp deletion syndrome, MIDAS (microphthalmia, dermal aplasia and sclerocornea) syndrome, MLS (microphthalmia and linear skin defects) and Gazali-Temple syndrome. The syndrome is lethal in males, and its severity in females varies from a relatively mild residual facial scarring with short stature to lethal developmental organ malformations. A new case with peculiar ultrastructural findings is presented. A review of the literature suggests that these associations represent a series of contiguous-gene syndromes.

Original languageEnglish
Pages (from-to)1046-1052
Number of pages7
JournalBritish Journal of Dermatology
Volume138
Issue number6
DOIs
StatePublished - 8 Jul 1998

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