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

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Title:	Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred.
Author(s):	Steensel, M.A.M. van ; Koedam, M.I.; Swinkels, O.Q.J. ; Rietveld, F.J.R.; Steijlen, P.M.
Publication year:	2001
Source:	British Journal of Dermatology, vol. 145, iss. 1, (2001), pp. 157--61
ISSN:	0007-0963
DOI:	http://dx.doi.org/10.1046/j.1365-2133.2001.04303.x
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/185832
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Subject:	Epidermal differentiation and cutaneous inflammation Epidermale differentiatie en cutane ontstekingsprocessen
Organization:	Dermatology Pathology
Journal title:	British Journal of Dermatology
Volume:	vol. 145
Issue:	iss. 1
Page start:	p. 157-
Page end:	p. 61
Classification:	Cell DifferentiationConnective Tissue Cells (Non MeSH)KeratinocytesLeukocytesSkinSkin DiseasesSkin Diseases, EczematousSkin Diseases, Genetic (Non MeSH)Skin Diseases, PapulosquamousSkin Ulcer
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.