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患儿,女,8岁,因右踝畸形4月来院诊治。查:T37.9℃,右踝肿胀,右食指1/3和舌尖缺损,诸指和趾粗短,甲灰厚,眉毛外2/3消失。入院后经药物退热无效,追溯病史得知自幼从不出汗,易发烧,针刺不痛。X线示右内、外踝骨折,内踝关节粉碎性骨折,踝部无压痛,无纵轴叩击痛。针刺面部和周身皮肤均无痛觉,火柴灼烤右小指起泡,无痛容或躲避。冰热水试验:双手无冷热痛,触觉正常。皮肤活检:右股外侧皮肤表皮正常,真皮层见个别毛囊,皮脂腺、汗腺发育不良。四肢血流图:无明显异常。同位素脑扫描:阴性。血常规、血沉、
Children, women, 8 years old, due to right ankle deformity in April to hospital treatment. Check: T37.9 ℃, swelling of the right ankle, right index finger 1/3 and tongue tip defect, fingers and toes stubby, armor thick, eyebrows 2/3 disappear. After admission, antipyretics ineffective, retroactive history that childhood never sweating, fever, acupuncture is not painful. X-ray showed the right, lateral malleolus fracture, malleolus comminuted fracture, ankle no tenderness, no longitudinal percussion pain. Acupuncture on the face and the skin around the body are not painful, burning matches the right little finger foaming, pain-free or avoid. Ice hot water test: hands without heat pain, touch normal. Skin biopsy: Right lateral femoral skin epidermis normal, dermis see individual hair follicles, sebaceous glands, sweat gland dysplasia. Limb blood flow diagram: no obvious abnormalities. Isotope brain scan: negative. Blood, ESR,