弹性假黄瘤样真皮乳头层弹性纤维溶解症国内首例报告

Pseudoxanthoma Elasticum-like Papillary Dermal Elastolysis:First Case Report in China

报告国内首次发现的弹性假黄瘤样真皮乳头层弹性纤维溶解症1例。患者女,38岁。因多发性肌炎10月余,颈部起黄色斑丘疹2月就诊。双侧颈部、锁骨上方有数十个绿豆至黄豆大淡黄色柔软丘疹或斑块,呈鹅卵石样。临床及实验室检查符合多发性肌炎,无眼及心血管改变。组织病理检查以韦杰尔特染液染色,可见真皮乳头层弹力纤维完全消失,真皮网状层内弹性组织轻度减少,von-kossa染色未见钙化。透射电镜真皮乳头层内弹力纤维消失,在真皮网状层上部可见大量未成熟的弹力纤维,胶原纤维结构正常。

First case of pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) in China was reported.A 38-year-old Chinese woman had polymyositis ten months and a 2-month history of asymptomatic skin lesions on the neck. Examination of the skin revealed many white-yellow non-follicular papules coalescing into plaques with a cobblestone appearance on the neck and the supraclavicular area.Clinical and laboratory tests accord with polymyositis.Ophthalmological examination and cardiovascular investigations were normal. Staining with haematoxylin and eosin (H&E) of the histology biopsied specimen taken from the patient showed a normal appearing papillary dermis.Weigert staining showed the loss of elastic fibre system in the papillary dermis.No calcification was seen with von Kossa stain. Ultrastructural examination of the involved skin confirmed the absence of the papillary dermal elastic fibers. In the upper reticular dermis there were numerous immature elastic fibers,and activated dermal fibroblasts with abundant elongated dentritic cytoplasmic processes, although collagen fibils had normal periodicity and structure.