A Case of Trichorhinophalangeal Syndrome.
- Author:
Yoon Hyang CHO
;
Tae Heung KIM
;
Ki Beom PARK
;
Hae Ryong SONG
- Publication Type:Case Report
- Keywords:
Trichorhinophalangeiel Syndiome
- MeSH:
Congenital Abnormalities;
Epiphyses;
Female;
Fingers;
Foot;
Hair;
Hand;
Humans;
Lip;
Nose;
Parturition;
Young Adult
- From:Korean Journal of Dermatology
1994;32(5):920-925
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Trichorhinophalangeal syndiome, a rare genetic disease, is characterzed by the triad of slow growing, brittle hair with early loss, a pear-shaped nose with bulbous tip and long philtrum, and coneshaped phalangeal epiphyses wiith resultant shortening and. deformity of hands and feet. A 24-year-old female visited our department for the evaluation of lalopecia. She had had sparse, thin, and brittle hair since birth. She also complained of short fingers ar d a pear-shaped nose with bulbous tip. The X-ray findings of her hands and feet showed cone-shaped epiphyses with shortening of the phalangeal bones. There was no family history of hair, nasal, or palnkoplantar phalangeal abnormality. Chromosomal study did not reveel any abnormal finding. Shortened phalangeal bones of her index and middle fingers were slightly improved by lengthening procedure with iIlizarov apparatus.
