Hallaji Zahra, Barzegari Massumeh, Kiavash Katrin
Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Skinmed. 2010 May-Jun;8(3):184-6.
A 49-year-old man was first seen in our department for the evaluation of scleroderma-like skin changes and a nonhealing ulcer on his leg from years before referral. His medical history was of long duration. His growth was stunted at the age of 12. At 21 years of age, the patient noted graying of the scalp hair, most prominent on his temples, and the process was progressively completed by the age of 23. At the same age, atrophy and thinning of the skin and loss of subcutaneous fat resulted in a tense, shining, and adherent appearance of his skin, most obvious on his face and extremities. Soon after, he developed a high-pitched, hoarse voice. He had undergone bilateral cataract surgery at the age of 30. Around the age of 46, he developed a unilateral nonhealing chronic leg ulcer (Figure 1). He had separated from his wife because of infertility. He was the first offspring of his second-degree healthy relative parents. The other 3 siblings had similar signs and symptoms. Our patient gave the history of premature graying of the hair of his younger brother at the age of 18 and his 2 younger sisters at the age of 12 and 16. His brother had recently received diagnoses of bilateral cataract and diabetes mellitus. All of the siblings had ceased growth from early adolescence. On physical examination, our patient's weight was 48 kg and his height was 150 cm. He had normal intelligence. He was speaking with a high-pitched and childish voice. He had a bird-like appearance with a beak-shaped nose. Mottled and diffuse pigmentation and poikiloderma appearance was conspicuous on his neck (Figure 2). The entire skin was smooth, shiny, and scleroderma-like, and a marked decrease in the subcutaneous fat was noted over the extremities. A deep cutaneous ulcer was evident on his slimmed leg. Digital ulcers were not found, and radial and dorsalis pedis pulses were palpable. Clinodactyly of the toes were conspicuous. His nails were dystrophic and he had used dentures from the age of 20. On examination of the external genitalia, his testes were smaller than normal. In the biopsy taken from the leg ulcer, there were no signs of malignancy. There were no signs ofosteomyelitis on x-ray. Biopsy of the normal skin revealed atrophic epidermis and thick dermis with hyalinization of the collagen fibers and absence of pilosebaceous structures (Figure 3). The patient's scalp hair was thin and sparse and there were few axillary and pubic hairs. His fasting plasma glucose level was normal.
一名49岁男性因硬皮病样皮肤改变及转诊前数年腿部一直未愈合的溃疡首次前来我科就诊。他的病史很长。他12岁时生长发育迟缓。21岁时，患者注意到头皮毛发变白，在太阳穴处最为明显，到23岁时这一过程逐渐完成。同年，皮肤萎缩变薄，皮下脂肪减少，导致皮肤紧绷、发亮且粘连，在面部和四肢最为明显。不久后，他出现了高音调、嘶哑的声音。他30岁时接受了双侧白内障手术。46岁左右，他出现了单侧腿部慢性不愈合溃疡（图1）。他因不育与妻子分居。他是二级健康亲属父母的第一个孩子。其他3个兄弟姐妹有类似的体征和症状。我们的患者讲述了他弟弟18岁时头发过早变白，两个妹妹分别在12岁和16岁时头发过早变白的情况。他的弟弟最近被诊断出患有双侧白内障和糖尿病。所有兄弟姐妹从青春期早期就停止了生长。体格检查时，我们的患者体重48千克，身高150厘米。他智力正常。他说话声音高音调且幼稚。他有鸟样面容，鼻子呈喙状。颈部有明显的斑驳和弥漫性色素沉着及皮肤异色症表现（图2）。整个皮肤光滑、发亮，呈硬皮病样，四肢皮下脂肪明显减少。他消瘦的腿部有一个深部皮肤溃疡明显可见。未发现指端溃疡，桡动脉和足背动脉搏动可触及。脚趾有明显的弯指畸形。他的指甲营养不良，20岁起就使用假牙。检查外生殖器时，他的睾丸比正常小。从腿部溃疡处取的活检组织中没有恶性肿瘤迹象。X线检查没有骨髓炎迹象。正常皮肤活检显示表皮萎缩，真皮增厚，胶原纤维玻璃样变，无皮脂腺结构（图3）。患者头皮毛发稀疏，腋毛和阴毛稀少。他的空腹血糖水平正常。
