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Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22
Author(s) -
Zvulunov,
Kachko,
Manor,
Shinwell,
Carmi
Publication year - 1998
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.1998.02277.x
Subject(s) - aplasia cutis congenita , microphthalmia , aplasia , medicine , dermatology , pathology , ectodermal dysplasia , scalp , anatomy , biology , genetics , gene
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 ( mi crophthalmia, d ermal a plasia and s clerocornea) syndrome, MLS ( m icrophthalmia and l inear s kin 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.