掩盖原发性免疫缺陷的严重口腔扁平苔藓：x连锁淋巴增生性疾病1型（XLP-1）。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-09-04 DOI:10.1111/pde.70025

Magí Brufau-Cochs, Ángela Deya Martínez, Mariana Álvarez Vukov, Laura Martí-Sánchez, Claudia Fortuny Guasch, Eulàlia Baselga Torres

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引用次数: 0

摘要

一个14岁的男孩最初被诊断为糜烂性口腔扁平苔藓基于临床和组织病理学结果。然而，不典型的临床病程和对免疫抑制治疗的抵抗引起了对自身炎症性疾病或先天免疫错误的怀疑。基因检测显示致病性SH2D1A突变，确认在没有eb病毒暴露的情况下为1型x连锁淋巴细胞增生性疾病（XLP-1）。本病例强调口腔黏膜病变是XLP-1潜在的早期、不依赖ebv的表现，并强调在持续性、难治性粘膜疾病中考虑单基因免疫疾病的重要性。

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Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1).

A 14-year-old boy was initially diagnosed with erosive oral lichen planus based on clinical and histopathological findings. However, the atypical clinical course and resistance to immunosuppressive therapy raised suspicion for an autoinflammatory disorder or inborn error of immunity. Genetic testing revealed a pathogenic SH2D1A mutation, confirming X-linked lymphoproliferative disease type 1 (XLP-1) in the absence of Epstein-Barr virus exposure. This case highlights oral mucosal lesions as a potential early, EBV-independent manifestation of XLP-1 and emphasizes the importance of considering monogenic immune disorders in persistent, treatment-refractory mucosal disease.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.