BackgroundEpidermodysplasia verruciformis is a rare genodermatosis characterized by a unique susceptibility to cutaneous human papillomaviruses infection. Most patients show autosomal recessive patterns of inheritance.Case presentationWe report a case of two sisters with clinically epidermodysplasia verruciformis specific lesions on the face, neck, trunk, and extremities. PCR analysis indicated the presence of human papillomavirus type 5 in the lesions. Electron microscopic examination showed viral-like particles in keratinocyte nuclei and the stratum corneum of the epidermodysplasia verruciformis lesions. In addition, we examined the EVER1 and EVER2 genes using eight different primer pairs without finding any nonsense or frameshift mutations in the gDNA from lymphocytes of the elder sister.ConclusionsIn this report, the patient’s parents did not have epidermodysplasia verruciformis lesions or a consanguineous marriage. EV did not develop in the elder sister until five years of age, so the parents did not perceive EV as an inherited disease. The probability that EV developed in both sisters was only 6.25%. Thus, it is rare for both sisters to develop epidermodysplasia verruciformis lesions considering that the parents were presumed to be carriers and the disease reveal an autosomal recessive pattern of inheritance.
Case Reportprogressive blistering skin lesions on the face, trunk, and extremities, which were treated with topical corticosteroids and antihistamines but showed no clinical improvement. On physical examination, severely pruritic erythemas and vesicles were diffusely distributed all over the body, most of which were eroded because of scratching ( Figure 1a). The erythematous rashes showed a variety of morphological patterns, erosions, flaccid bullae, and concentric erythemas with a wood-grainlike appearance (Figures 1b and 1c). Oral and conjunctival mucosal lesions were absent. The patient had no medical history, and the results of laboratory examinations were within normal ranges, except for mild hypercholesterolemia. Enzyme-linked immunosorbent assays showed negative results for all desmoglein 1 (Dsg1), Dsg3, bullous pemphigoid 180 (BP180) and BP 230.A skin biopsy specimen from an erythematous legion on the chest containing a vesicle showed subepidermal blistering and dense infiltration of neutrophils, eosinophils, and histiocytes in the superficial dermis (Figure 2a). The infiltrated cells were condensed in the papillary layer of the dermis (Figure 2b). Direct immunofluorescence (DIF) revealed linear deposition of IgG and C3 along the epidermal basement membrane zone (BMZ; Figure 2c). Indirect immunofluorescence (IIF) demonstrated circulating IgG anti-BMZ antibodies at a titer of 1:160, which bound to the dermal side of 1M NaCl-split normal human skin (data not shown).Immunoblot (IB) analysis of normal human dermal extracts revealed that IgG antibodies in the patient serum reacted with a 290-kDa protein band with the same mobility as an epidermolysis bullosa acquisita (EBA) antigen (type VII collagen; Figure 2d). IB of purified human laminin-332 (epiligrin or laminin-5) also detected IgG reactivity with the 165-kDa and 145-kDa forms of the alpha-3 subunit of laminin-332, which were also recognized by a positive control serum from a patient with anti-laminin-332-type mucous membrane pemphigoid (MMP) (Figure 2e). Other IB analyses of normal human epidermal extracts, the recombinant proteins of NC16a and the C-terminal domains of BP180, and a concentrated HaCaT cell culture supernatant showed no positive reactivity (data not shown).The patient was initially treated with dapsone (50 mg/day), which dramatically improved his pruritus, but failed to suppress the development of the erythemas and vesicles. Gradual increase in levels of liver transglutaminases led to cessation of dapsone. Because both pruritus and skin lesions were refractory to subsequent oral prednisolone (40 mg/day) or betamethasone (6 mg/day), double filtration plasmapheresis (DFPP) was performed. However, after 3 cycles of DFPP, the patient abruptly developed a high fever, showed deterioration of liver function, and showed increase in levels of white blood cells (12,800 cells/µL, normal<9,000 µL) and C-reactive protein (15.7 mg/dL, normal<0.3 mg/dL). Methicillin-resistant staphylococcal aureus (MRSA) was detected from a blood specimen and from a c...
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