Background: Epidermolysis bullosa pruriginosa is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by intense pruritus, secondary scratching-induced lesions, and pronounced scarring.
Observations: 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.
Conclusions: 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.