Surgical treatment of hand disorders in Farber's disease: a case report.
Farber's disease is a rare autosomal recessive disorder caused by a deficiency of acid ceramidase activity whose symptoms include hoarseness, subcutaneous nodules, and painful swollen and contracted joints. This case report focuses on hand abnormalities and surgical treatment of hand disorders in Farber's disease. A 9-year-old girl had occasional painful locking of the metacarpophalangeal joints of the middle fingers and severe tenderness of the dorsal aspect of the wrists. Resection of several nodules within the metacarpophalangeal joint and of a nodule that was firmly attached to the extensor pollicis longus tendon beneath the extensor retinaculum relieved pain and enabled the patient to perform daily activities.
Moritomo
Hisao
H
Department of Orthopaedic Surgery, Osaka University Medical School, Suita-shi, Osaka, Japan.
Nakase
Takanobu
T
Maeda
Kazuya
K
Murase
Tsuyoshi
T
Yoshikawa
Hideki
H
D002518:Ceramides / Q000172:deficiency*; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006099:Granuloma / Q000151:congenital / Q000601:surgery; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000601:surgery*; D006801:Humans; D008662:Metacarpophalangeal Joint / Q000002:abnormalities / Q000601:surgery*; D010147:Pain Measurement; D011859:Radiography; D016059:Range of Motion, Articular / Q000502:physiology; D016896:Treatment Outcome; D014955:Wrist Joint / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery*
D002518:Ceramides