| Literature DB >> 9457749 |
N T Tijmes1, M J Zaal, P T De Jong, H J Völker-Dieben.
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.Entities:
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Year: 1997 PMID: 9457749 DOI: 10.3109/13816819709041433
Source DB: PubMed Journal: Ophthalmic Genet ISSN: 1381-6810 Impact factor: 1.803