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霍普夫迟发性非家族性疣状肢端角化病:一例报告

Late-onset non-familial acrokeratosis verruciformis of Hopf: a case report.

作者信息

Faina V, Magri F, Sernicola A, Chello C, Gagliostro N, Grieco T

机构信息

Department of Dermatology, Policlinico Umberto I, "Sapienza" University of Rome, Italy.

出版信息

Clin Ter. 2019 Nov-Dec;170(6):e418-e420. doi: 10.7417/CT.2019.2168.

Abstract

Acrokeratosis verruciformis of Hopf is a rare heritable autosomal dominant genodermatosis and keratinization disorder, first described in 1931 by Hopf. It presents with multiple flat skin colored papules, mainly localized at the dorsal region of the hands and feet. AKV is an allelic disorder, associated with heterozygous missense mutation in ATP2A2 gene, which is involved in Darier's disease. Usually, it arises in early life but rare sporadic cases with adult onset have been reported. We report a case of late-onset non-familial AKV in a 52-year old patient.

摘要

霍普夫疣状肢端角化病是一种罕见的遗传性常染色体显性基因皮肤病和角化障碍,1931年由霍普夫首次描述。其表现为多个扁平的皮肤颜色丘疹,主要位于手足背部。AKV是一种等位基因疾病,与ATP2A2基因的杂合错义突变有关,该基因与 Darier病有关。通常,它在早年发病,但也有罕见的成年发病的散发病例报道。我们报告一例52岁患者的迟发性非家族性AKV病例。

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