Literature DB >> 10848748

Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

S Schauder1, F Hanefeld, U M Noske, B Zoll.   

Abstract

The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.

Entities:  

Mesh:

Year:  2000        PMID: 10848748     DOI: 10.1046/j.1365-2133.2000.03551.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  3 in total

1.  Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome.

Authors:  María Del Carmen Boente; Raúl Asial; Norma Beatriz Primc; Rudolf Happle
Journal:  J Dermatol Case Rep       Date:  2013-06-30

Review 2.  [How frequently does genetic mosaicism occur in the skin?].

Authors:  R Happle
Journal:  Hautarzt       Date:  2014-06       Impact factor: 0.751

3.  Nevoid hypertrichosis: case report with review of the literature.

Authors:  Lipy Gupta; Ram Kishan Gautam; Minakshi Bharadwaj
Journal:  Int J Trichology       Date:  2011-07
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.