文献简介

出版社:JAMA

作  者:Kimberly A. Huerth, MD,MEd; Dominique C. Pichard, MD; Scott A. Norton, MD, MPH

编  号:

关键字:隆突性皮肤纤维肉瘤;萎缩

年  份:2019   点击量:54

文献摘要 全文翻译

A young man in his late teens presented with numerous atrophic papules and plaques on his trunk and extremities that developed gradually over several years. Although most were asymptomatic, the patient was concerned about the ongoing appearance of new lesions and the associated pain that some lesions were causing. His medical history was significant foradenosine deaminase–deficient severe combined immunodeficiency(ADA-SCID), which had been managed since childhood with twice weekly intramuscular injections of pegademase bovine enzymere placement, thrice weekly trimethoprim-sulfamethoxazole for Pneumocystis prophylaxis, and monthly infusions of intravenous immunoglobulin. Physical examination revealed 9 smooth-surfaced, skin-colored to hyperpigmented, 0.5- to 1.5-cm atrophic papules and plaques that exhibited the buttonhole sign on palpation (Figure, A). The multicentric lesions were located on the left knee, left thigh, bilateral chest, and back. Punch biopsies of lesions on his trunk and extremities were sent for histopathological examination with hematoxylin-eosin(H&E) staining (Figure, B and C), immunohistochemical (IHC) studies, and molecular evaluation with reverse transcription polymerase chain reaction.

患者,男性,青少年晚期,躯干和四肢出现许多萎缩性丘疹和斑块,且在几年后逐渐发展。虽然大多数时候无症状,但患者仍担心新皮损的出现,以及一些皮损诱发的疼痛。患者有显著腺苷脱氨酶缺陷所致严重联合免疫缺陷病(ADA-SCID)病史,自儿童期就开始接受治疗,每周两次肌注腺苷脱氨酶,每周三次甲氧苄氨嘧啶-磺胺甲基异噁唑(用以预防肺囊虫病),每月静脉注射免疫球蛋白。体格检查发现9个表面光滑、肤色至色素过度沉着的、0.5至1.5 cm的萎缩丘疹和斑块,触诊表现为buttonhole症(图A)。多中心皮损位于左膝、左大腿、双侧胸部和背部。取躯干四肢钻孔活检标本用于组织病理学检查、HE(H&E)染色(图B和C),免疫组化(IHC)研究和分子研究以及逆转录聚合酶链反应。