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一名患有色素沉着干皮症的13岁危地马拉女孩患非典型纤维黄色瘤。

Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

作者信息

Chappell Ava G, Chase Elizabeth P, Chang Beverly, Cunningham Eric, Mihm Fred, Calame Antoanella, Fudem Gary, Cunningham Bari

机构信息

Division of Plastic Surgery, University of Massachusetts Medical School, Worcester, Massachusetts.

Division of Dermatology, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas.

出版信息

Pediatr Dermatol. 2016 May;33(3):e228-9. doi: 10.1111/pde.12852. Epub 2016 Apr 4.

DOI:10.1111/pde.12852
PMID:27046537
Abstract

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger.

摘要

着色性干皮病(XP)是一种罕见的常染色体隐性疾病,涉及DNA修复缺陷,导致多种侵袭性皮肤恶性肿瘤过早发生。虽然非典型纤维黄色瘤(AFX)是一种通常在大量阳光照射或治疗性放疗情况下出现的肿瘤,但AFX很少与患有XP的儿童相关。我们报告了一例13岁危地马拉女孩的病例,她患有C型XP变体,其手指上长出了据报道在儿童中最大的AFX之一。

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