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Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitôt-like conjunctival anomalies.

作者信息

Tijmes N T, Zaal M J, De Jong P T, Völker-Dieben H J

机构信息

Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.

出版信息

Ophthalmic Genet. 1997 Dec;18(4):185-92. doi: 10.3109/13816819709041433.

DOI:10.3109/13816819709041433
PMID:9457749
Abstract

Five cases from two unrelated families with a hitherto unknown combination of dyshidrotic ectodermal dysplasia with corneal vessel ingrowth, limbal hair follicles with hairs, and Bitôt-like spots in the conjunctiva are described. The corneal lesions were slowly progressive. In one pedigree, autosomal recessive inheritance is most likely, in the other there is uncertainty about the mode of inheritance. According to the criteria of Pinheiro and Freire-Maya, the mentioned cases can be classified into subgroup 1-2-4. The cases under investigation showed no palisades of Vogt like those seen in aniridia and after radiation therapy. We also found an absence of goblet cells in the affected individuals. We suggest therefore that the corneal and conjunctival anomalies are possibly caused by a stem cell disorder.

摘要

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