原发性骨膜增生厚皮症伴重度贫血1例

A Case of Primary Hypertrophic Osteoarthropathy with Severe Anemia

患者男,39岁,面部皮肤肥厚、四肢肢端肥大20年,间断头晕乏力1年。查体:重度贫血貌,睑结膜、口唇及甲床苍白;头面部皮肤肥厚、皱褶、呈回状颅皮;双下肢皮肤肥厚,手指及足趾呈杵状;皮损颜色正常,触之略韧;踝关节肿胀无压痛、活动自如。X线检查提示右腓骨中段髓腔密度增多,腓骨中段及胫骨下段后缘骨皮质增厚。血常规重度正常细胞低色素性贫血,骨髓活检提示骨髓造血衰竭,骨髓纤维化不明显。诊断:原发性骨膜增生厚皮症伴重度贫血。

A 39-year-old male presented thicked facial skin and extremities hypertrophy for 20 years,intermittent dizziness and fatigue for 1 year.Physical examination showed severe anemia appearance,pallid palpebral conjunctiva,lips and nail beds.The skin of his face,scalp and lower limbs became thickened,with prominent gyrus-like skin folds found in his scalp and forehead,clubbing fingers and toes were obvious.The lesions with normal skin colour and slightly tough.Ankle joint swelling without tenderness,free movement.X-ray images showed increased density of the medullary cavity in the middle part of the right fibula,and thickened cortical bone in the middle part of the right fibula and the posterior margin of the lower tibia.Blood routine examination showed severe anemia of normal cells,bone marrow biopsy showed hematopoietic failure of bone marrow,and myelofibrosis was not obvious.The diagnosis of primary hypertrophic osteoarthropathy with severe anemia was definite.