Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon;
Skinmed. 2024 Aug 2;22(3):172-177. eCollection 2024.
Pseudoxanthoma elasticum (PXE) is an inherited disorder characterized by degradation and fragmentation of elastic fibers and calcium depos- its in the dermis. It clinically manifests as yellow papules or plaques in a cobblestone distribution or "plucked-chicken skin" appearance on the lateral neck and/or flexural areas. In addition, it can also affect the eyes, cardiovascular, and gastrointestinal systems. It is considered as the prototype of ectopic heritable mineralization disorders, usually diagnosed in the second decade of life. The majority of patients are sporadic but recessive, but pseudodominant autosomal forms have been described as well. Mutations affecting the ATP-binding cassette subfamily C member 6 () gene or gamma-glutamyl carboxylase () gene lead to PXE. Accumulating evidence in the literature has found that numerous disorders may demonstrate cutaneous PXE-like clinical and/or histologic features without any other systemic evidence of PXE or any genetic documentation of inherited mutations. In this review, we aimed to highlight all the disorders that were reported to exhibit PXE-like clinical and/or microscopic changes and to discuss possible underlying mechanisms leading to such an overlap.
弹性假黄瘤（PXE）是一种遗传性疾病，其特征是弹性纤维降解和碎裂，并伴有真皮钙沉积。临床上表现为鹅卵石样分布的黄色丘疹或斑块，或颈外侧和/或弯曲部位的“拔毛鸡皮”外观。此外，它还可能影响眼睛、心血管和胃肠道系统。它被认为是异位遗传性矿化障碍的典型代表，通常在生命的第二个十年被诊断出来。大多数患者为散发性，但为隐性遗传，但也有描述为假性常染色体显性遗传形式。影响 ATP 结合盒亚家族 C 成员 6（ABCC6）基因或γ-谷氨酰羧化酶（GGCX）基因的突变导致 PXE。文献中的大量证据发现，许多疾病可能表现出类似于 PXE 的皮肤临床和/或组织学特征，但没有任何其他 PXE 的系统证据或遗传性突变的遗传记录。在这篇综述中，我们旨在强调所有报道显示出 PXE 样临床和/或微观变化的疾病，并讨论导致这种重叠的可能潜在机制。
