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红细胞生成尿卟啉病是一种常染色体隐性遗传疾患,十分罕见。我院曾遇1例,报道如下。张××20岁男性。1987年11月15日初诊。双眼经常红、痛疼,视力减退,已10余年。10余年来,日光照射后,双眼睑皮肤刺痛、起水泡、糜烂、结痂,以后形成瘢痕。患者生后尿即呈棕红色,牙齿亦呈棕色。3岁时,皮肤露出部位受日光照射后出现小水泡、溃疡和瘢痕,反复发作。这种改变随年龄增长而加重。体格检查发现面部皮肤布满瘢痕和色素沉着。牙根紫褐色,牙体棕色。双耳皮肤有瘢痕,耳轮略有凹曲,耳廓变硬。脾在肋下4cm。四肢正常。视力右眼0.1,左眼0.1。眼睑皮肤有色素和瘢痕。双角膜各有4mm
Erythropoiesis Uroporphyrinsis is an autosomal recessive genetic disorder that is rare. Our hospital had a case, reported as follows. Zhang × × 20-year-old male. November 15, 1987 newly diagnosed. Eyes often red, painful, vision loss, has more than 10 years. More than 10 years after the sun exposure, double eyelid skin tingling, blisters, erosion, crusting, scars after formation. The patient’s urine after birth was brown red, the teeth are also brown. 3 years old, the skin exposed parts of small blisters, ulcers and scars after exposure to sunlight, recurrent. This change aggravates with age. Physical examination found that facial skin covered with scars and pigmentation. Root purple, brown teeth. Cuts in both ears, with slightly concave curvature of the ear, ear pinch hardens. Spleen in the ribs 4cm. Extremities normal. Right eye 0.1, left eye 0.1. Eyelid skin pigment and scar. Double cornea each 4mm