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Hair‐nail dysplasia ‐ a new pure autosomal dominant ectodermal dysplasia
Author(s) -
Pinhairo Marta,
FreireMaia Newton
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03401.x
Subject(s) - ectodermal dysplasia , nail (fastener) , nail disease , dermatology , medicine , dysplasia , genetics , biology , anatomy , pathology , paronychia , materials science , metallurgy
An apparently hitherto undescribed pure ectodermal dysplasia of the tricho‐onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho‐onychic subgroup to 19, and the total number of ectodermal dyspiasias to 155.