A case of trichorhinophalangeal syndrome, type I.
A single case of trichorhinophalangeal syndrome, type I, is reported. The patient manifested the complete triad of the syndrome: thin, sparse, slow-growing scalp hairs; a pear-shaped nose; and cone-shaped epiphysis in some interphalangeal articulations of both hands. In addition, tooth decay, pectus carinatum, lumbar scoliosis, and polycystic ovary were observed. This multisystemic disorder is apparently rare, but its prevalence is probably underestimated in the dermatologic literature.
Department of Dermatology, Hospital of Brescia, Italy.
D
D
Braga
A M
AM
Manganoni
R
R
Gavazzoni
G
G
Pasolini
G
G
De Panfilis
D000015:Abnormalities, Multiple; D000328:Adult; D004838:Epiphyses / Q000002:abnormalities; D005260:Female; D005384:Finger Joint / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D009666:Nose / Q000002:abnormalities*; D011085:Polycystic Ovary Syndrome / Q000473:pathology; D012600:Scoliosis / Q000473:pathology; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome