Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22
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 synd...
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Veröffentlicht in: | British journal of dermatology (1951) 1998-06, Vol.138 (6), p.1046-1052 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 0007-0963 1365-2133 |
DOI: | 10.1046/j.1365-2133.1998.02277.x |