Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22
✍ Scribed by Zvulunov; Kachko; Manor; Shinwell; Carmi
- Book ID
- 104458726
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 518 KB
- Volume
- 138
- Category
- Article
- ISSN
- 0007-0963
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✦ Synopsis
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.