患者男,48岁。主诉:尿液变黑48年,巩膜黑斑3年,面部褐色斑1年。现病史:患者出生后即发现尿布呈黑色,尿液长时间静置后可变为黑色,3年前巩膜出现黑斑,1年前眶周出现黑褐色斑片,逐渐累及双上眼睑及鼻部、耳软骨增厚、变黑,皮损无痛痒等不适,近半年腰痛,弯腰时疼痛加重,未予诊治。为明确诊断,患者于2013年10月16日来我科就诊。既往史及家族史:患者1年前曾行冠状动脉支架植入术。家族成员中其母有类似疾病。 Male patient, 48 years old. Chief Complaint: Urine turns black for 48 years, sclera dark spots for 3 years, facial brown spots for 1 year. History of illness: The diaper was found to be black after it was born, and the urine turned black after standing for a long time. Black sclera appeared three years ago and dark brown patches appeared on the periorbital surface one year ago, gradually involving the double upper eyelid and nasal Department, ear cartilage thickening, darkening, skin lesions itching and other discomfort, nearly six months back pain, pain worsened when bending over, no diagnosis and treatment. To confirm the diagnosis, patients came to our department on October 16, 2013. Previous history and family history: Patients underwent coronary stenting a year earlier. Family members have similar diseases in their mother.