Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.
Publication year
2001Source
British Journal of Dermatology, 145, 1, (2001), pp. 157--61ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Dermatology
Pathology
Journal title
British Journal of Dermatology
Volume
vol. 145
Issue
iss. 1
Page start
p. 157-
Page end
p. 61
Subject
Epidermal differentiation and cutaneous inflammation; Epidermale differentiatie en cutane ontstekingsprocessenAbstract
We describe a Dutch kindred with a possibly novel dominant syndrome of premature loss of curly, brittle hair, premature loss of teeth due to caries, nail dystrophy and acral keratoderma. We discuss the possibility that this ectodermal dysplasia of group 1-2-3-4 is a variant of known disorders such as pachyonychia congenita. We conclude that none of these diagnoses fits the symptoms we observe in our patients and propose the name curly hair-acral keratoderma-caries syndrome in view of the most obvious abnormalities.
This item appears in the following Collection(s)
- Academic publications [202801]
- Faculty of Medical Sciences [80020]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.