| Literature DB >> 3232512 |
K Tuppurainen1, J Fräki, S Karjalainen, L Paljärvi, R Suhonen, M Ryynänen.
Abstract
We describe a rare syndrome in a Finnish family, in which the father and his two sons are congenitally deaf and also exhibit corneal vascularization, and hyperkeratosis of the skin of the palms, soles, elbows and knees. In addition, all 3 suffer from fungal infections of the skin and nails. We also describe a fourth, sporadic case of a 9-year-old girl with the same disease. The KID (k = keratitis, i = ichthyosis, d = deafness) syndrome is an ectodermal dysplasia that probably arises through mutation, and is transmitted as an autosomal dominant in the family described by us.Entities:
Mesh:
Year: 1988 PMID: 3232512 DOI: 10.1111/j.1755-3768.1988.tb04063.x
Source DB: PubMed Journal: Acta Ophthalmol (Copenh) ISSN: 0001-639X