Tey Hong Liang, Lee Andrew D, Almaani Noor, McGrath John A, Mills Kyle C, Yosipovitch Gil
Department of Dermatology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157-1071, USA.
Arch Dermatol. 2011 Aug;147(8):956-60. doi: 10.1001/archdermatol.2011.189.
Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by intense pruritus, secondary scratching-induced lesions, and pronounced scarring.
We describe a patient with epidermolysis bullosa pruriginosa who was misdiagnosed as having psychogenic pruritus for several years. Except for nail (toenail) dystrophy, no features of the disease were evident among his immediate family members. An underlying new heterozygous donor splice-site mutation in the type VII collagen gene (IVS55 + 1G>C) was found in both the patient and his family members with nail dystrophy. Inheritance was autosomal dominant. The patient was treated with cyclosporine and experienced significant reduction in pruritus, with subsequent improvement of the skin condition.
Pruritus is an important factor in the development of epidermolysis bullosa pruriginosa and is the focus of management. Patients with this inherited skin disorder can be easily misdiagnosed as having psychogenic pruritus, and this article aims to make physicians aware of this diagnostic pitfall.
痒疹性大疱性表皮松解症是营养不良性大疱性表皮松解症的一种罕见临床亚型，其特征为剧烈瘙痒、搔抓引起的继发性皮损和明显瘢痕形成。
我们描述了一名痒疹性大疱性表皮松解症患者，该患者被误诊为精神性瘙痒数年。除了指甲（趾甲）营养不良外，其直系亲属中未发现该疾病的特征。在该患者及其患有指甲营养不良的家庭成员中均发现了VII型胶原基因的一个潜在新的杂合供体剪接位点突变（IVS55 + 1G>C）。遗传方式为常染色体显性遗传。该患者接受环孢素治疗后瘙痒明显减轻，随后皮肤状况改善。
瘙痒是痒疹性大疱性表皮松解症发病的一个重要因素，也是治疗的重点。患有这种遗传性皮肤病的患者很容易被误诊为精神性瘙痒，本文旨在让医生意识到这一诊断陷阱。
