Wang Zi, Lin Yi, Duan Xing-Wu, Hang Hai-Yan, Zhang Xia, Li Ling-Ling
Department of Dermatology, Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine, Beijing 100000, China.
World J Clin Cases. 2021 May 6;9(13):3090-3094. doi: 10.12998/wjcc.v9.i13.3090.
Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of DEB, characterized by recurrent pruritus of the extremities, pruritus papules, nodules, and mossy-like plaques. To date, fewer than 100 cases have been reported. We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment, thereby serving as a guide to correct diagnosis and treatment.
A 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back. Examination revealed multiple symmetrical, purple, and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl's sign, no abnormalities in the skin, mucosa, hair, or fingernail, and no local lymph node enlargement. Blisters were never reported prior to presentation. Serum immunoglobulin E level was 636 IU/mL. Clinical manifestations suggested DEB-Pr. Histological examination showed subepidermal fissure, scar tissue, and milia. Direct immunofluorescence showed no obvious abnormalities. However, we were unable to perform electron microscopy or genetic research following his choice. We treated him with topical tacrolimus. After 2 wk, the itching alleviated, and the skin lesions began to subside. No adverse reactions were observed during treatment.
Topical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.
营养不良性大疱性表皮松解症瘙痒型（DEB-Pr）是DEB的一种罕见亚型，其特征为四肢反复瘙痒、瘙痒性丘疹、结节及苔藓样斑块。迄今为止，报道的病例不足100例。我们报告1例误诊的30岁散发晚发型DEB-Pr男性患者，他对他克莫司治疗反应良好，从而为正确诊断和治疗提供指导。
1例30岁男性患者，左胫骨出现持续1年的反复瘙痒性斑块，后加重并累及双下肢及背部。检查发现多个对称的紫色色素沉着丘疹和结节，伴有表皮剥脱，累及胫骨和颈部背面，尼氏征阴性，皮肤、黏膜、毛发及指甲无异常，局部淋巴结无肿大。就诊前从未报告过水疱。血清免疫球蛋白E水平为636 IU/mL。临床表现提示为DEB-Pr。组织学检查显示表皮下裂隙、瘢痕组织及粟丘疹。直接免疫荧光检查未见明显异常。然而，根据他的选择，我们未能进行电子显微镜检查或基因研究。我们用外用他克莫司对他进行治疗。2周后，瘙痒减轻，皮肤病变开始消退。治疗期间未观察到不良反应。
外用他克莫司是治疗DEB-Pr患者的一种安全选择，可持续缓解严重瘙痒。
