BACKGROUND Dystrophic epidermolysis bullosa pruriginosa(DEB-Pr)is a rare subtype of DEB,characterized by recurrent pruritus of the extremities,pruritus papules,nodules,and mossy-like plaques.To date,fewer than 100 cas...BACKGROUND Dystrophic epidermolysis bullosa pruriginosa(DEB-Pr)is a rare subtype of DEB,characterized by recurrent pruritus of the extremities,pruritus papules,nodules,and mossy-like plaques.To date,fewer than 100 cases have been reported.We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment,thereby serving as a guide to correct diagnosis and treatment.CASE SUMMARY A 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back.Examination revealed multiple symmetrical,purple,and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl's sign,no abnormalities in the skin,mucosa,hair,or fingernail,and no local lymph node enlargement.Blisters were never reported prior to presentation.Serum immunoglobulin E level was 636 IU/mL.Clinical manifestations suggested DEB-Pr.Histological examination showed subepidermal fissure,scar tissue,and milia.Direct immunofluorescence showed no obvious abnormalities.However,we were unable to perform electron microscopy or genetic research following his choice.We treated him with topical tacrolimus.After 2 wk,the itching alleviated,and the skin lesions began to subside.No adverse reactions were observed during treatment.CONCLUSION Topical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.展开更多
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 lat...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.展开更多
基金National Natural Science Foundation of China,No.81874393.
文摘BACKGROUND Dystrophic epidermolysis bullosa pruriginosa(DEB-Pr)is a rare subtype of DEB,characterized by recurrent pruritus of the extremities,pruritus papules,nodules,and mossy-like plaques.To date,fewer than 100 cases have been reported.We report a misdiagnosed 30-year-old man with sporadic late-onset DEB-Pr who responded well to tacrolimus treatment,thereby serving as a guide to correct diagnosis and treatment.CASE SUMMARY A 30-year-old man presented with recurrent itching plaques of 1-year duration in the left tibia that aggravated and involved both legs and the back.Examination revealed multiple symmetrical,purple,and hyperpigmented papules and nodules with surface exfoliation involving the tibia and dorsum of the neck with negative Nissl's sign,no abnormalities in the skin,mucosa,hair,or fingernail,and no local lymph node enlargement.Blisters were never reported prior to presentation.Serum immunoglobulin E level was 636 IU/mL.Clinical manifestations suggested DEB-Pr.Histological examination showed subepidermal fissure,scar tissue,and milia.Direct immunofluorescence showed no obvious abnormalities.However,we were unable to perform electron microscopy or genetic research following his choice.We treated him with topical tacrolimus.After 2 wk,the itching alleviated,and the skin lesions began to subside.No adverse reactions were observed during treatment.CONCLUSION Topical tacrolimus is a safe treatment option for patients with DEB-Pr and can achieve continuous relief of severe itching.
文摘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.
