Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.
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.
van Steensel
M A
MA
Department of Dermatology, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands. m.vansteensel@derma.azn.nl
Koedam
M I
MI
Swinkels
O Q
OQ
Rietveld
F
F
Steijlen
P M
PM
D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics; D003731:Dental Caries / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007642:Keratosis / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed; D009426:Netherlands / Q000208:ethnology; D010375:Pedigree; D013577:Syndrome