首页|Epidermolysis Bullosa Pruriginosa in Two Siblings:A Case Report
Epidermolysis Bullosa Pruriginosa in Two Siblings:A Case Report
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
NETL
NSTL
万方数据
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.Here,we reported two sisters with EBP.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.
NETL
NSTL
万方数据
