Congenital atrichia with nail dystrophy, abnormal facies, and retarded psychomotor development in two siblings: a new autosomal recessive syndrome?
We cared for two sisters, ages 3 and 4 years, who suffered from congenital atrichia. Scalp biopsies performed on both children revealed a marked atrophy of hair follicles with rudimentary hair shafts. The absence of peribulbar infiltrates ruled out alopecia areata. Dystrophy of all nails, distinctive facies, retarded psychomotor development, and a delay in speaking were additional symptoms. The unique combination of findings excludes well-established syndromes such as atrichia with papular lesions, GAPO syndrome, and dominant hidrotic ectodermal dysplasia, as well as X-linked hypohidrotic ectodermal dysplasia. We therefore conclude that we may be dealing with a new genetic entity. The occurrence of the disorder in two siblings with unaffected parents suggests an autosomal recessive mode of inheritance.
Vogt
B R
BR
Department of Dermatology, University of Münster, West Germany.
Traupe
H
H
Hamm
H
H
D000505:Alopecia / Q000151:congenital* / Q000235:genetics; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome