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Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred
Author(s) -
Van Steensel M.A.M.,
Koedam M.I.,
Swinkels O.Q.,
Rietveld F.,
Steijlen P.M.
Publication year - 2001
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2001.04303.x
Subject(s) - keratoderma , ectodermal dysplasia , palmoplantar keratoderma , dermatology , medicine , hyperkeratosis , nail (fastener) , dystrophy , genodermatosis , dysplasia , nail disease , ichthyosis , pathology , biology , genetics , paronychia , materials science , metallurgy , gene
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.