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

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.

• Authors: A Zvulunov, L Kachko, E Manor, E Shinwell, R Carmi
• Journal: The British journal of dermatology (Br J Dermatol) Vol. 138 Issue 6 Pg. 1046-52 (Jun 1998) ISSN: 0007-0963 [Print] England
• PMID: 9747372 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Chromosome Deletion
• Ectodermal Dysplasia (pathology)
• Facial Dermatoses (metabolism)
• Female
• Humans
• Infant, Newborn
• Microscopy, Electron
• Neck
• X Chromosome