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Distinctive hair changes (pili torti) in Rapp‐Hodgkin ectodermal dysplasia syndrome
Author(s) -
Silengo M. Cirillo,
Davi G. F.,
Bianco R.,
Costa M.,
DeMarco A.,
Ve R.,
Franceschini P.
Publication year - 1982
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.1399-0004.1982.tb01375.x
Subject(s) - ectodermal dysplasia , hypodontia , scalp , hair disease , hypoplasia , hypohidrotic ectodermal dysplasia , alopecia areata , dermatology , alopecia universalis , anatomy , body hair , medicine , hypotrichosis , biology , genetics , dentistry , gene
An 8‐year‐old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.