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Rapp‐Hodgkin hypohidrotic ectodermal dysplasia syndrome
Author(s) -
Walpole Ian R.,
Goldblatt Jack
Publication year - 1991
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.1399-0004.1991.tb02996.x
Subject(s) - hypohidrotic ectodermal dysplasia , ectodermal dysplasia , medicine , proband , anhidrosis , dermatology , scalp , hypodontia , dentistry , genetics , biology , mutation , gene
Four members in three generations of a family had Rapp‐Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.