Epidermolysis bullosa consist of a pattern of diseases which is mainly associated with genetic defects in the integrity of structures that cause the adhesion of the epidermis with the dermis,primarily called as the Ba...Epidermolysis bullosa consist of a pattern of diseases which is mainly associated with genetic defects in the integrity of structures that cause the adhesion of the epidermis with the dermis,primarily called as the Basement Membrane Zone.If the defect is associated with the lamina lucida of the basement membrane zone,it is called junctional epidermolysis bullosa(JEB).JEB is mainly inherited in an autosomal recessive manner.The characteristic feature of all the JEB subtypes is enamel hypoplasia.This article is aimed at identifying the main features of JEB in children.Fifty articles which were published between 2000 and 2022 were reviewed and the types,investigations and management of JEB are explained based on the existing literature.展开更多
Summary:Non-Herlitz junctional epidermolysis bullosa(JEB-nH),an autosomal recessive bullous genodermatosis,is characterized by generalized skin blistering from birth onward,dental anomalies,universal alopecia and nail...Summary:Non-Herlitz junctional epidermolysis bullosa(JEB-nH),an autosomal recessive bullous genodermatosis,is characterized by generalized skin blistering from birth onward,dental anomalies,universal alopecia and nail dystrophy.The underlying defect is mutation of the COLI7AI gene encoding the type XVⅡcollagen,resulting in losing structure for attachment of basal epithelial cells to the matrix.In present study,we described one case of congenitally affected female child aged 10 years,with skin blistering.Dermatologic examination revealed sparse,mild blisters on the face and hand,with profound enamel pitting of the teeth.Skin biopsy from proband's bullous skin displayed subepidermal bulla formation without acantholysis.The immunofluorescence of anti-type XVⅡcollagen antibody staining showed loss of type XVⅡcollagen staining at the basement membrane zone.A combination of whole exome sequencing(WES)and Sanger sequencing revealed the novel heterozygous mutations(C.4324C>T;p.Q1442^*and C.I 834G>C;p.G612R)in COLI7AI gene,which could be associated with the observed JEB-nH.One allele had a novel nonsense mutation(c.4324C>T;p.Q1442^*),resulting in nonsense-mediated mRNA decay and truncated collagen XVⅡ;the other allelc had a novel misscnse mutation of c.1834G>C;p.G612R in exon 22,causing a glycine-to-arginine substitution in the Gly-X-Y triple helical repeating motifs and decreasing the thermal stability of collagen XVⅡ.Our findings indicate that the genetic test based on WES can be useful in diagnosing JEB-nH patients.The novel pathogenic mutations identified would further expand our understanding of the mutation spectrum of COLI7AI gene in association with the inherited blistering diseases.展开更多
Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, which is characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. Sufferers of...Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, which is characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. Sufferers of EB have compared the sores to third-degree burns. Stevens-Johnson syndrome is a rare but very serious skin problem, which causes the appearance of reddish lesions throughout the body and other changes, such as difficulty in breathing and fever, which can endanger the life of the affected person. The aim of this study was to show efficacy of a NANOSKIN ACT, AND NANOSKIN ACT SOFT wound dressing on the wound care management in patients with EB AND Stevens-Johnson syndrome (SJS).展开更多
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
Background: Epidermolysis bullosa aquisita (EBA) is a severe acquired blistering skin disease that is often resistant to prednisolone but can respond well to intravenous immunoglobulin infusion (IVIg). Main Observatio...Background: Epidermolysis bullosa aquisita (EBA) is a severe acquired blistering skin disease that is often resistant to prednisolone but can respond well to intravenous immunoglobulin infusion (IVIg). Main Observations: We describe the case of a 35 years old male patient with EBA who developed clinically significant haemolytic anaemia with a drop in Hb from 15.3 g/dL to a nadir of 8.4 g/dL within 5 days post IVIg infusion. The patient was blood group A and the IVIg batch was found to have a high titre of anti-A immunoglobulin. Conclusions: IVIg is an effective treatment for EBA. Haemolysis associated with IVIg has not previously been reported in the dermatology literature but review of data from other specialties shows that the problem is well recognised. Dermatologists using IVIg should be aware of this potential complication and patients should be consented appropriately and warned about this potential side effect.展开更多
Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immun...Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that was demonstrated by a renal biopsy. Unpublished previously, this complication should be considered among the possible causes of renal damage in EB. Also it is recommended a protocoled surveillance of renal and urinary tract complications in children with EB.展开更多
Background:Epidermolysis bullosa(EB)is a heterogynous group of skin disorders characterized by formation of blisters and erosions of the skin in response to minor trauma.Subtypes include EB simplex(EBS),junctional EB(...Background:Epidermolysis bullosa(EB)is a heterogynous group of skin disorders characterized by formation of blisters and erosions of the skin in response to minor trauma.Subtypes include EB simplex(EBS),junctional EB(JEB),dystrophic form of EB(DEB)and finally Kindler syndrome(KS).In addition to dermal manifestation,patients can present with various ophthalmic pathologies.Methods:We reviewed the pathobiology,epidemiology and management of ocular manifestations as well as current and future innovative therapies for EB.Results:The severity and incidence of ocular involvement were the highest in the recessive DEB-generalized severe and JEB-generalized severe subtypes.Recurrent corneal erosions and blisters were the most common finding and seem to correlate with skin disease.Other manifestations include corneal scaring,blepharitis,ectropion,symblepharon,infantile cataracts,lacrimal duct obstruction as well as meibomian gland deficiency.Conclusions:Ophthalmology consult as well as regular follow-up are essential in the multi-disciplinary approach of this disease.Indeed,parents’and patients’education as well as early diagnosis and treatment are crucial to prevent permanent and long-term visual disabilities.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
Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB...Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB,and eight variants including a novel nonsense variant(c.47G>A,p.W16*)in LAMA3,a known recurrent variant(c.74C>T,p.P25L)in KRT5,2 novel(c.2531T>A,p.V844E;c.6811_6814del,p.R2271fs)and 4 known(c.6187C>T,p.R2063W;c.7097G>A,p.G2366D;c.8569G>T,p.E2857*;c.3625_3635del,p.S1209fs)variants in COL7A1 were detected.Notably,this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay.Our study expands the mutation spectra of Chinese patients with EB.展开更多
Epidermolysis bullosa is a group of genetic disorders with an autosomal dominant or an autosomal recessive mode of inheritance and more than 300 mutations. The disorder is characterized by blistering mucocutaneous les...Epidermolysis bullosa is a group of genetic disorders with an autosomal dominant or an autosomal recessive mode of inheritance and more than 300 mutations. The disorder is characterized by blistering mucocutaneous lesions and has several varying phenotypes due toanchoring defect between the epidermis and dermis. The variation in phenotypic expression depends on the involved structural protein that mediates cell adherence between different layers of the skin. Epidermolysis bullosa can also involve extra-cutaneous sites including eye, nose, ear, upper airway, genitourinary tract and gastrointestinal tract. The most prominent feature of the gastrointestinal tract involvement is development of esophageal stricture. The stricture results from recurrent esophageal mucosal blistering with consequent scarring and most commonly involves the upper esophagus. Here we present a case of a young boy with dominant subtype of dystrophic epidermolysis bullosa who presented with dysphagia, extensive skin blistering and missing nails. Management of an esophageal stricture eventually requires dilatation of the stricture or placement of a gastrostomy tube to keep up with the nutritional requirements. Gastrostomy tube also provides access for esophageal stricture dilatation in cases where antegrade approach through the mouth has failed.展开更多
Amyloidosis is characterized by extracellular deposition of abnormal protein, consisting of primary, secondary, hemodialysis-related, hereditary, senile and localized type. Primary amyloidosis is associated with monoc...Amyloidosis is characterized by extracellular deposition of abnormal protein, consisting of primary, secondary, hemodialysis-related, hereditary, senile and localized type. Primary amyloidosis is associated with monoclonal light chains. Secondary amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. Amyloid deposition in the gastrointestinal tract can manifest the symptoms including diarrhea, steatorrhea, or constipation. For diagnosis, one should obtain an immunofixation of serum or urine as well as biopsy sampling of gastrointestinal mucosa stained specifically. While most gastrointestinal complications are managed symptomatically, treatment depends upon the type of amyloidosis. Causal therapy is reserved for a select few from various subtypes of this disorder.展开更多
文摘Epidermolysis bullosa consist of a pattern of diseases which is mainly associated with genetic defects in the integrity of structures that cause the adhesion of the epidermis with the dermis,primarily called as the Basement Membrane Zone.If the defect is associated with the lamina lucida of the basement membrane zone,it is called junctional epidermolysis bullosa(JEB).JEB is mainly inherited in an autosomal recessive manner.The characteristic feature of all the JEB subtypes is enamel hypoplasia.This article is aimed at identifying the main features of JEB in children.Fifty articles which were published between 2000 and 2022 were reviewed and the types,investigations and management of JEB are explained based on the existing literature.
基金This work was supported by the National Natural Science Foundation of China(No.81700032).
文摘Summary:Non-Herlitz junctional epidermolysis bullosa(JEB-nH),an autosomal recessive bullous genodermatosis,is characterized by generalized skin blistering from birth onward,dental anomalies,universal alopecia and nail dystrophy.The underlying defect is mutation of the COLI7AI gene encoding the type XVⅡcollagen,resulting in losing structure for attachment of basal epithelial cells to the matrix.In present study,we described one case of congenitally affected female child aged 10 years,with skin blistering.Dermatologic examination revealed sparse,mild blisters on the face and hand,with profound enamel pitting of the teeth.Skin biopsy from proband's bullous skin displayed subepidermal bulla formation without acantholysis.The immunofluorescence of anti-type XVⅡcollagen antibody staining showed loss of type XVⅡcollagen staining at the basement membrane zone.A combination of whole exome sequencing(WES)and Sanger sequencing revealed the novel heterozygous mutations(C.4324C>T;p.Q1442^*and C.I 834G>C;p.G612R)in COLI7AI gene,which could be associated with the observed JEB-nH.One allele had a novel nonsense mutation(c.4324C>T;p.Q1442^*),resulting in nonsense-mediated mRNA decay and truncated collagen XVⅡ;the other allelc had a novel misscnse mutation of c.1834G>C;p.G612R in exon 22,causing a glycine-to-arginine substitution in the Gly-X-Y triple helical repeating motifs and decreasing the thermal stability of collagen XVⅡ.Our findings indicate that the genetic test based on WES can be useful in diagnosing JEB-nH patients.The novel pathogenic mutations identified would further expand our understanding of the mutation spectrum of COLI7AI gene in association with the inherited blistering diseases.
文摘Epidermolysis Bullosa (EB) is a group of rare genetic skin conditions, which is characterised by extremely fragile skin and recurrent blister formation, resulting from minor mechanical friction or trauma. Sufferers of EB have compared the sores to third-degree burns. Stevens-Johnson syndrome is a rare but very serious skin problem, which causes the appearance of reddish lesions throughout the body and other changes, such as difficulty in breathing and fever, which can endanger the life of the affected person. The aim of this study was to show efficacy of a NANOSKIN ACT, AND NANOSKIN ACT SOFT wound dressing on the wound care management in patients with EB AND Stevens-Johnson syndrome (SJS).
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Background: Epidermolysis bullosa aquisita (EBA) is a severe acquired blistering skin disease that is often resistant to prednisolone but can respond well to intravenous immunoglobulin infusion (IVIg). Main Observations: We describe the case of a 35 years old male patient with EBA who developed clinically significant haemolytic anaemia with a drop in Hb from 15.3 g/dL to a nadir of 8.4 g/dL within 5 days post IVIg infusion. The patient was blood group A and the IVIg batch was found to have a high titre of anti-A immunoglobulin. Conclusions: IVIg is an effective treatment for EBA. Haemolysis associated with IVIg has not previously been reported in the dermatology literature but review of data from other specialties shows that the problem is well recognised. Dermatologists using IVIg should be aware of this potential complication and patients should be consented appropriately and warned about this potential side effect.
文摘Epidermolysis bullosa (EB) is an inherited connective tissue disease causing blisters in the skin and mucosal membranes. In severe cases, EB may be associated with renal damage through several mechanisms, mainly immunological ones. The present case described a young male with dystrophic recessive EB who developed an advanced chronic renal damage secondary to tubulointerstitial nephritis that was demonstrated by a renal biopsy. Unpublished previously, this complication should be considered among the possible causes of renal damage in EB. Also it is recommended a protocoled surveillance of renal and urinary tract complications in children with EB.
文摘Background:Epidermolysis bullosa(EB)is a heterogynous group of skin disorders characterized by formation of blisters and erosions of the skin in response to minor trauma.Subtypes include EB simplex(EBS),junctional EB(JEB),dystrophic form of EB(DEB)and finally Kindler syndrome(KS).In addition to dermal manifestation,patients can present with various ophthalmic pathologies.Methods:We reviewed the pathobiology,epidemiology and management of ocular manifestations as well as current and future innovative therapies for EB.Results:The severity and incidence of ocular involvement were the highest in the recessive DEB-generalized severe and JEB-generalized severe subtypes.Recurrent corneal erosions and blisters were the most common finding and seem to correlate with skin disease.Other manifestations include corneal scaring,blepharitis,ectropion,symblepharon,infantile cataracts,lacrimal duct obstruction as well as meibomian gland deficiency.Conclusions:Ophthalmology consult as well as regular follow-up are essential in the multi-disciplinary approach of this disease.Indeed,parents’and patients’education as well as early diagnosis and treatment are crucial to prevent permanent and long-term visual disabilities.
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.
基金This work was financially supported by the National Natural Science Foundation of China(No.81788101)the National Key Research and Development Program of China(No.2016YFC0905100)+1 种基金the CAMS Innovation Fund for Medical Sciences(CIFMS)(No.2016-I2M-1-002)the Natural Science Foundation of Beijing(No.7172167).
文摘Epidermolysis bullosa(EB)is a group of clinically and genetically heterogeneous diseases characterized by trauma-induced mucocutaneous fragility and blister formation.Here,we investigated five Chinese families with EB,and eight variants including a novel nonsense variant(c.47G>A,p.W16*)in LAMA3,a known recurrent variant(c.74C>T,p.P25L)in KRT5,2 novel(c.2531T>A,p.V844E;c.6811_6814del,p.R2271fs)and 4 known(c.6187C>T,p.R2063W;c.7097G>A,p.G2366D;c.8569G>T,p.E2857*;c.3625_3635del,p.S1209fs)variants in COL7A1 were detected.Notably,this study identified a nonsense variant in LAMA3 that causes EB within the Chinese population and revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels by nonsense-mediated mRNA decay.Our study expands the mutation spectra of Chinese patients with EB.
基金This work was supported by grants from Young foundation of Peking Union Medical College （No. 3332016107）, Nature Science Foundation of Jiangsu （No. BK20160153）, Innovation Research on Critical Diseases （No. 2016ZX320014）.
文摘目的评价右美托咪定滴鼻麻醉用于大疱表皮松解症(EB)矫形手术的效果。方法择期行双手假性并指矫形手术EB患儿41例,按照随机数字表法分为右美托咪定组(D组,21例)和对照组(N组,20例)。D组于入手术室前30 min经鼻滴注2 ug/kg右美托咪定,N组给予等量生理盐水经鼻滴注。记录患儿入室前与家长分离时的Ramsay评分,记录患儿术中追加氯胺酮次数、手术时间、苏醒时间及术后24 h FLACC疼痛评分。统计患儿术中呼吸抑制、苏醒期躁动发生例数和新发大疱数。结果D组患儿的Ramsay评分高于N组,氯胺酮追加次数和术后苏醒期躁动例数均少于N组,差异有统计学意义(P<0.05)。2组患儿呼吸抑制发生次数、术后苏醒时间、FLACC评分、新发大疱数的差异均无统计学意义(P>0.05)。结论右美托咪定滴鼻麻醉用于大疱表皮松解症患儿矫形手术,可有效减轻患儿与家长分离障碍,与麻醉药物起协同作用,减少术中氯胺酮追加次数、苏醒期躁动次数,而且对患儿苏醒时间及术后疼痛程度均无影响。
文摘Epidermolysis bullosa is a group of genetic disorders with an autosomal dominant or an autosomal recessive mode of inheritance and more than 300 mutations. The disorder is characterized by blistering mucocutaneous lesions and has several varying phenotypes due toanchoring defect between the epidermis and dermis. The variation in phenotypic expression depends on the involved structural protein that mediates cell adherence between different layers of the skin. Epidermolysis bullosa can also involve extra-cutaneous sites including eye, nose, ear, upper airway, genitourinary tract and gastrointestinal tract. The most prominent feature of the gastrointestinal tract involvement is development of esophageal stricture. The stricture results from recurrent esophageal mucosal blistering with consequent scarring and most commonly involves the upper esophagus. Here we present a case of a young boy with dominant subtype of dystrophic epidermolysis bullosa who presented with dysphagia, extensive skin blistering and missing nails. Management of an esophageal stricture eventually requires dilatation of the stricture or placement of a gastrostomy tube to keep up with the nutritional requirements. Gastrostomy tube also provides access for esophageal stricture dilatation in cases where antegrade approach through the mouth has failed.
文摘Amyloidosis is characterized by extracellular deposition of abnormal protein, consisting of primary, secondary, hemodialysis-related, hereditary, senile and localized type. Primary amyloidosis is associated with monoclonal light chains. Secondary amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. Amyloid deposition in the gastrointestinal tract can manifest the symptoms including diarrhea, steatorrhea, or constipation. For diagnosis, one should obtain an immunofixation of serum or urine as well as biopsy sampling of gastrointestinal mucosa stained specifically. While most gastrointestinal complications are managed symptomatically, treatment depends upon the type of amyloidosis. Causal therapy is reserved for a select few from various subtypes of this disorder.
