口腔粘膜の難治性潰瘍および不明熱を呈した先天性無痛無汗症の1例 A case of congenital insensitivity to pain with anhidrosis, an intractable ulcer of the oral mucosa, and fever of unknown origin
We report a case of congenital insensitivity to pain with anhidrosis (CIPA), a intractable ulcer of the oral mucosa, and fever of unknown origin. A 4-month-old girl was referred to our clinic on May, 1999 because of an ulcer of the lower gingiva and the oral floor, accompanied by a high fever. The present episode of ulcer and high fever began 1 month before presentation. The patient was malnourished as an infant, and physical findings were essentially normal. There was an ulcer, measuring 3×3cm on the lower gingiva and the oral floor. We treated the ulcerative lesion, and she was admitted to the Department of pediatrics to improve physical status. Clinical examination did not reveal the cause. CT and MRI scans of the head showed no abnormal findings. While we were perplexed about the diagnosis, CIPA was suggested when the patient showed painless behavior at venipuncture, biting her finger. CIPA was diagnosed by the sweating test, biopsy of nerve and skin, and mutations in the TRKA/NGF receptor gene. The ulcer of the gingiva and oral floor rapidly improved in response to exercise restraint of an arm. Afterward, ulcers of inferior lingual surface and buccal mucosa appeared with teeth eruption, but the ulcers improved after milling the teeth.
日本口腔外科学会雑誌 50(12), 765-768, 2004-12-20
Japanese Society of Oral and Maxillofacial Surgeons