title: Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.
abstract: Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.
authors.affiliation: Department of Dermatology, Spedali Civili, Brescia, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Calzavara-Pinton
authors.forename: A
authors.initials: A
authors.lastname: Carlino
authors.forename: A
authors.initials: A
authors.lastname: Benetti
authors.forename: G
authors.initials: G
authors.lastname: De Panfilis
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000209:etiology; D004476:Ectodermal Dysplasia / Q000235:genetics / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed; D010375:Pedigree