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Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus. 2011

Hong Liang Tey, and Andrew D Lee, and Noor Almaani, and John A McGrath, and Kyle C Mills, and Gil Yosipovitch
Department of Dermatology, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157-1071, USA.

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

UI MeSH Term Description Entries
D008297 Male Males
D011537 Pruritus An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief. Itching,Pruritis
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D016108 Epidermolysis Bullosa Dystrophica Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS. Cockayne-Touraine Disease,Epidermolysis Bullosa, Dystrophic,Hallopeau-Siemens Disease,Cockayne-Touraine Type Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosa, Autosomal Recessive,Epidermolysis Bullosa Dystrophica, Autosomal Recessive,Epidermolysis Bullosa Dystrophica, Cockayne-Touraine Type,Epidermolysis Bullosa Dystrophica, Dominant,Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type,Epidermolysis Bullosa Dystrophica, Recessive,Bullosa Dystrophica, Epidermolysis,Bullosa Dystrophicas, Epidermolysis,Bullosa, Dystrophic Epidermolysis,Bullosas, Dystrophic Epidermolysis,Cockayne Touraine Disease,Cockayne Touraine Type Epidermolysis Bullosa,Dystrophic Epidermolysis Bullosas,Dystrophica, Epidermolysis Bullosa,Dystrophicas, Epidermolysis Bullosa,Epidermolysis Bullosa Dystrophica, Cockayne Touraine Type,Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type,Epidermolysis Bullosa Dystrophicas,Epidermolysis Bullosas, Dystrophic,Hallopeau Siemens Disease

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