Unilateral Acrokeratoelastoidosis—Second Reported Case
Unilateral Acrokeratoelastoidosis—Second Reported Case
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单侧肢端角化弹力病——第二例报道
DOI：
10.1111/j.1525-1470.2010.01164.x
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发表时间：
2011
影响因子：
1.5
通讯作者：
T. Shwayder
中科院分区：
文献类型：
--
作者：
N. Klekowski;T. Shwayder
摘要：肢端角蛋白弹性样病（AKE）是一种罕见的疾病，表现为沿手掌背交界处的疣样丘疹。其特征是角质层的正角化过度和网状真皮的弹性增生。常染色体显性遗传的散发性和家族性病例均有报道。目前，没有有效的治疗AKE的方法，它可能会对美容产生重大影响。在此，我们报告了第二例报道的5岁非洲裔美国女孩单侧AKE病例，并假设该患者单侧AKE的机制是遗传嵌合。
Abstract: Acrokeratoelastoidosis (AKE) is a rare disease that manifests as wartlike papules along the dorsal palmar junction. It is characterized by orthohyperkeratosis in the horny layer and elastorrhexis in the reticular dermis. Both sporadic and familial cases following autosomal dominant inheritance have been reported. Currently, no effective treatments exist for AKE, which can have a significant cosmetic impact. Here we present the second reported case of unilateral AKE in a 5‐year‐old African American girl and hypothesize that the mechanism for the unilateral nature of AKE in this patient is genetic mosaicism.