Kaimbo Dieudonne Kaimbo Wa, Mutosh Anne, Leys Anita, Parys-van Ginderdeuren Rita, Bergen A A B
Department of Ophthalmology, University of Kinshasa, DR Congo.
Skinmed. 2011 Mar-Apr;9(2):119-21.
CASE 1: A 24-year-old black woman was referred to our clinic in September 1999 by the department of dermatology. She was referred to confirm the diagnosis of pseudoxanthoma elasticum (PXE). Her medical history was normal. Dermatologic examination revealed confluent papules that gave the skin a "plucked chicken" appearance on the flexural surfaces in the neck, axillae, clavicle, thigh, and periumbilical area (Figure 1). The patient stated that the changes in her skin had begun in the periumbilical region at about 5 years of age and had since been slowly progressive. Physical examination showed brownish black pigmentation on the left side of the face, left eyelid, and left sclera, which was diagnosed as Nevus of Ota (Figure 2). Her visual acuity was 20/10 in both eyes, with no afferent pupillary defect. Intraocular pressure in both eyes was normal. Slit lamp examination showed no abnormalities. Findings from fundus examination revealed angioid streaks that formed an incomplete ring around the optic disc and anteriorly radiated toward the equator of the globe, multiple calcified drusen-like structures, and "peau d'orange" changes. Skin biopsy (skin tissue from the neck) was taken and the diagnosis of PXE was confirmed. Histopathologic findings revealed calcification of the elastic fibers and abnormalities of the collagen (Figure 3). The patient was not known to have sickle cell anemia or sickle cell trait, and her blood pressure levels had never elevated. Other systemic causes of angioid streaks were excluded by findings from extensive laboratory examination. Her relatives were asked to come in for examination but lived far away. One of the patient's sisters lived in Kinshasa, Africa, however, and is presented in case 2. CASE 2: The 27-year-old sister of the previous patient was examined on April 19, 2000. At examination, she was found to have PXE. Her medical history was significant for systemic hypertension since 1998 and genital hemorrhage. She underwent an ablation of a cyst of her left ovary in 1988. Her ocular history was unremarkable. On physical examination, raised (yellow) papillary lesions, typical of pseudoxanthoma, were found on the neck, axillae, clavicle, thigh, and periumbilical regions. External and anterior segment examinations (of her eyes) were unremarkable. She was found to have a best-corrected visual acuity of 20/10 in both eyes. Intraocular pressure was normal. Funduscopy revealed bilateral angioid streaks, crystalline bodies, and "peau d'orange," but to a lesser extent than in her sister. In both cases, after informed consent, peripheral blood cells were taken and sent for extraction of DNA. Analysis was performed but could not demonstrate the known gene defects of PXE.
病例1：1999年9月，一名24岁的黑人女性被皮肤科转至我们的诊所。她被转来以确诊弹性假黄瘤（PXE）。她的病史无异常。皮肤科检查发现颈部、腋窝、锁骨、大腿和脐周区域的屈侧表面有融合性丘疹，使皮肤呈现出“拔毛鸡”的外观（图1）。患者称其皮肤变化始于约5岁时的脐周区域，此后逐渐缓慢发展。体格检查发现面部左侧、左眼睑和左巩膜有棕黑色色素沉着，诊断为太田痣（图2）。她双眼视力均为20/10，无传入性瞳孔缺陷。双眼眼压正常。裂隙灯检查未发现异常。眼底检查发现血管样条纹围绕视盘形成一个不完整的环，并向前向眼球赤道放射，有多个钙化的玻璃疣样结构以及“橘皮样”改变。进行了皮肤活检（取自颈部的皮肤组织），确诊为PXE。组织病理学检查发现弹性纤维钙化和胶原异常（图3）。该患者无镰状细胞贫血或镰状细胞性状，血压水平从未升高。广泛的实验室检查结果排除了血管样条纹的其他全身性病因。我们要求她的亲属前来检查，但他们住得很远。不过，患者的一个姐妹住在非洲金沙萨，在病例2中介绍。病例2：2000年4月19日对前一名患者的27岁姐妹进行了检查。检查发现她患有PXE。她的病史显示自1998年起患有全身性高血压和生殖器出血。1988年她接受了左侧卵巢囊肿切除术。她的眼部病史无异常。体格检查发现颈部、腋窝、锁骨、大腿和脐周区域有典型的弹性假黄瘤凸起（黄色）乳头状病变。眼部外部和前段检查无异常。发现她双眼最佳矫正视力均为20/10。眼压正常。眼底镜检查发现双侧有血管样条纹、晶状体和“橘皮样”改变，但程度比她的姐姐轻。在两例病例中，在获得知情同意后，采集了外周血细胞并送去提取DNA。进行了分析，但未发现PXE已知的基因缺陷。
