SkinmedPub Date : 2024-08-02eCollection Date: 2024-01-01
Nohra Ghaoui, Jihane Abou-Rahal, Nourhane Nasser, Mazen Kurban, Ossama Abbas
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引用次数: 0
摘要
假黄疽弹性瘤(PXE)是一种遗传性疾病,其特点是弹性纤维退化和碎裂,真皮层中钙沉积。临床表现为黄色丘疹或斑块,呈鹅卵石状分布,或在颈侧和/或挠曲部位出现 "鸡皮疙瘩 "外观。此外,它还会影响眼睛、心血管和胃肠系统。它被认为是异位遗传性矿化疾病的原型,通常在患者出生后的第二个十年被诊断出来。大多数患者为散发性隐性遗传,但也有假显性常染色体遗传的病例。影响 ATP 结合盒 C 亚家族成员 6(ABCC6)基因或γ-谷氨酰羧化酶(GGCX)基因的突变会导致 PXE。文献中不断积累的证据发现,许多疾病都可能表现出类似于皮肤 PXE 的临床和/或组织学特征,但却没有任何其他系统性的 PXE 证据,也没有任何遗传突变的基因记录。在这篇综述中,我们旨在强调所有据报道表现出 PXE 类似临床和/或显微变化的疾病,并讨论导致这种重叠的可能潜在机制。
Pseudoxanthoma Elasticum-Like Changes:Associations- and Underlying Mechanisms.
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 (ABCC6) gene or gamma-glutamyl carboxylase (GGCX) 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.