Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred

M A van Steensel; M I Koedam; O Q Swinkels; F Rietveld; P M Steijlen

doi:10.1046/j.1365-2133.2001.04303.x

Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred

Br J Dermatol. 2001 Jul;145(1):157-61. doi: 10.1046/j.1365-2133.2001.04303.x.

Authors

M A van Steensel¹, M I Koedam, O Q Swinkels, F Rietveld, P M Steijlen

Affiliation

¹ Department of Dermatology, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. [email protected]

PMID: 11453928
DOI: 10.1046/j.1365-2133.2001.04303.x

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Craniofacial Abnormalities / genetics
Dental Caries / genetics*
Diagnosis, Differential
Female
Hair / abnormalities*
Humans
Keratosis / genetics*
Male
Nails, Malformed*
Netherlands / ethnology
Pedigree
Syndrome