摘要Introduction::Epidermolysis bullosa pruriginosa (EBP) is a rare clinical subtype of inherited dystrophic epidermolysis bullosa (DEB) caused by type VII collagen mutations. The onset of EBP is variable and may present in late adulthood. The clinical features of EBP include prurigo-like papules, plaques, nodules, or linear configuration on the lower extremities.Case presentation::We identified two Thai sisters with mild to moderate form of EBP, which resulted from a shared glycine substitution (Gly2287Val) in COL7A1 identified by genomic sequencing. Discussion::The histology and molecular findings of both cases supported a diagnosis of dystrophic EBP, however, the clinical manifestations differ between both cases.Conclusion::Molecular testing is the key for the diagnosis of EBP due to nonspecific clinical manifestation and histologic findings, however, there is no clear genotype-phenotype correlation in EBP.

abstractsIntroduction::Epidermolysis bullosa pruriginosa (EBP) is a rare clinical subtype of inherited dystrophic epidermolysis bullosa (DEB) caused by type VII collagen mutations. The onset of EBP is variable and may present in late adulthood. The clinical features of EBP include prurigo-like papules, plaques, nodules, or linear configuration on the lower extremities.Case presentation::We identified two Thai sisters with mild to moderate form of EBP, which resulted from a shared glycine substitution (Gly2287Val) in COL7A1 identified by genomic sequencing. Discussion::The histology and molecular findings of both cases supported a diagnosis of dystrophic EBP, however, the clinical manifestations differ between both cases.Conclusion::Molecular testing is the key for the diagnosis of EBP due to nonspecific clinical manifestation and histologic findings, however, there is no clear genotype-phenotype correlation in EBP.