Maarouf Melody, Sharon Victoria R, Sivamani Raja K, Prakash Neha, Bipin T H, Davis Tracy, Shi Vivian Y
Division of Dermatology, Department of Medicine, University of Arizona, Tucson, Arizona.
Dermatol Online J. 2017 Sep 15;23(9):13030/qt82j7181p.
Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder characterized by atypical elastic fibers that causes connective tissue abnormalities of the skin, eyes, and heart, among other organs. The disorder is rare, with a classic presentation of yellow-orange cobblestone-like papules on flexural areas, lax skin, ocular degeneration, and moribund vasculature in multiple organs. There is wide variability in the presentation of the affected organs [1]. We present two sisters with classic cutaneous findings of PXE with the additional unusual findings of numerous open comedones on the neck. To our knowledge, this is the first report of numerous open comedones in familial PXE.
弹性假黄瘤（PXE）是一种常染色体隐性疾病，其特征为非典型弹性纤维，可导致皮肤、眼睛、心脏及其他器官的结缔组织异常。该疾病较为罕见，典型表现为屈侧部位出现黄橙色鹅卵石样丘疹、皮肤松弛、眼部退变以及多个器官的血管病变。受累器官的表现差异很大[1]。我们报告了两姐妹，她们有PXE的典型皮肤表现，此外颈部还有大量开放性粉刺这一不寻常表现。据我们所知，这是家族性PXE中出现大量开放性粉刺的首例报告。
