title: 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.affiliation: Department of Dermatology, Soroka Medical Center, Ben Gurion University, Beer Sheva, Israel. azvulun@bgumail.bgu.ac.il
authors.forename: A
authors.initials: A
authors.lastname: Zvulunov
authors.forename: L
authors.initials: L
authors.lastname: Kachko
authors.forename: E
authors.initials: E
authors.lastname: Manor
authors.forename: E
authors.initials: E
authors.lastname: Shinwell
authors.forename: R
authors.initials: R
authors.lastname: Carmi
mesh_terms: D002872:Chromosome Deletion; D004476:Ectodermal Dysplasia / Q000473:pathology*; D005148:Facial Dermatoses / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008854:Microscopy, Electron; D009333:Neck; D014960:X Chromosome