Tappel Anna C, Tiwari Nitin, Zlotoff Barrett
University of Virginia School of Medicine, Charlottesville, Virginia.
Department of Dermatology, University of Virginia Health System, Charlottesville, Virginia.
Pediatr Dermatol. 2019 May;36(3):346-348. doi: 10.1111/pde.13776. Epub 2019 Feb 22.
This case report presents a 17-year-old boy with Bardet-Biedl syndrome (BBS) and a long-standing hyperpigmented eruption on the left trunk and upper extremity, clinically and histologically consistent with linear porokeratosis (LP). BBS patients frequently require solid organ transplant, and subsequent immunosuppression places them at especially high risk for malignant transformation of premalignant skin lesions such as LP. Although BBS affects multiple organ systems, there are only a handful of case reports detailing associated cutaneous involvement, and, to our knowledge, this is the first reported case of linear porokeratosis occurring in patient with BBS.
本病例报告介绍了一名17岁患有巴德-比德尔综合征（BBS）的男孩，其左侧躯干和上肢有长期存在的色素沉着性皮疹，临床和组织学表现均符合线状汗孔角化症（LP）。BBS患者经常需要实体器官移植，而随后的免疫抑制使他们发生如LP等癌前皮肤病变恶性转化的风险特别高。尽管BBS会影响多个器官系统，但仅有少数病例报告详细描述了相关的皮肤受累情况，据我们所知，这是首例报道的BBS患者发生线状汗孔角化症的病例。
