Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.
We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome.
Kondoh
Tatsuro
T
Department of Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan. kontatsu@net.nagasaki-u.ac.jp
Eguchi
Jiro
J
Hamasaki
Yoichiro
Y
Doi
Tomoki
T
Kinoshita
Eiichi
E
Matsumoto
Tadashi
T
Abe
Kuniko
K
Ohtani
Yoshinobu
Y
Moriuchi
Hiroyuki
H
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism*; D003456:Cryptorchidism / Q000175:diagnosis*; D005260:Female; D006311:Hearing Disorders / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D012868:Skin Abnormalities / Q000175:diagnosis*; D013577:Syndrome
D003094:Collagen