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 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
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
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
Background The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic.However,in the past decade,there were considerable interests in therapeutic approaches in...Background The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic.However,in the past decade,there were considerable interests in therapeutic approaches in treating hereditary diseases.Some of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-functional proteins.Gentamicin could induce readthrough of nonsense mutations and enable the synthesis of full-length proteins.We focus on previous publications on topical application of gentamicin and review its utility in genetic skin diseases.Data sources We search the MEDLINE through PubMed,EMBASE databases,and the Clinical Trials Registry Platform from January 1960 to July 2020 using the key search terms"gentamicin,topical gentamicin,genodermatosis,genetic skin diseases".Results The application of gentamicin in genodermatosis yielded promising results,both in vivo and in vitro,including Nagashima-type palmoplantar keratosis,epidermolysis bullosa,Hailey-Hailey disease,hereditary hypotrichosis simplex of the scalp,etc.Conclusions Topical gentamicin is a potential treatment option for genodermatosis caused by nonsense mutation.展开更多
Objective: The aim of the present study was to evaluate the structural variations of nasal cavity in reference to frequency and types at the key area i.e. the ostiomeatal complex. Materials and Methods: Computed tomog...Objective: The aim of the present study was to evaluate the structural variations of nasal cavity in reference to frequency and types at the key area i.e. the ostiomeatal complex. Materials and Methods: Computed tomography of Paranasal sinuses of 50 patients was studied for clinical suspicion of various sinonasal pathologies. Results: The most commonly encountered anatomical variations in this study were Deviated Nasal Septum in 78% (39 patients), followed by Concha Bullosa in 36% (18 patients), Agger Nasi cell in 18% (nine patients), Pneumatised septum in 12% (six patients), Paradoxical Middle Turbinate and Septated Maxillary Sinus in 10% (five patients each) and Pneumatised Uncinate Process 6% (three patients). In quite a few patients we witnessed more than one variation. Conclusion: The anatomical variations in the nose and ostiomeatal complex are not uncommon, with the most frequent ones involving the nasal septum and the middle turbinate.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
Fungal infection usually involves the paranasal sinuses. This is a rare case of fungal mass in concha bullosa. A 19-year-old immunocompetent female patient presented with nasal obstruction. Anterior rhinoscopy reveale...Fungal infection usually involves the paranasal sinuses. This is a rare case of fungal mass in concha bullosa. A 19-year-old immunocompetent female patient presented with nasal obstruction. Anterior rhinoscopy revealed enlarged middle turbinate on left side. CT showed heterogenous opacity and enlargement of left middle turbinate. Intraoperatively, middle turbinate was found to be filled with cheesy material which was culture positive for Aspergillus fumigatus.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
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
Angina bullosa hemorrhagica(ABH) is an enigmatic oral disorder described for the first time by Badham in 1967 to define blisters with a hematic content in the oralcavity and oropharynx unrelated to any hematological, ...Angina bullosa hemorrhagica(ABH) is an enigmatic oral disorder described for the first time by Badham in 1967 to define blisters with a hematic content in the oralcavity and oropharynx unrelated to any hematological, dermatological or systemic disease. The ABH is an uncommon disease of the oral cavity distinctively affecting adults, with the highest incidence over the 5th decade of life. This process is considered nowadays to have a multifactorial etiopathogenesis, where mild oral traumatisms can trigger the blisters in susceptible individuals. Certain association on the onset of the lesion with the chronic use of inhaled steroids and, more controversially, with triggering systemic disorders, such as, diabetes or hypertension has been described. Characteristically, the ABH blisters are acute and are located on the lining mucosa, more frequently on the soft palate. Usually, the lesions are solitary and rupture easily, resulting in a superficial ulceration that heals quickly without scarring. The histopathological analysis shows a subepithelial blister containing blood and direct immunofluorescence on the epithelium is negative. The differential diagnosis should consider all oral vesiculobullous disorders with hematic content, including mucocutaneos, hematological or cystic pathology. The diagnosis of ABH is clearly clinical, although the biopsy might be helpful on atypical or abnormally recurrent cases. The general prognosis of ABH is good and the treatment is symptomatic.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
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.
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.
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).
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.
基金supported by Children's Medicine Research Project of Beijing Children's Hospital,Capital Medical University(YZZD202002).
文摘Background The clinical use of gentamicin always lies in its antimicrobial activity in the past as an aminoglycoside antibiotic.However,in the past decade,there were considerable interests in therapeutic approaches in treating hereditary diseases.Some of the genodermatosis is caused by nonsense mutations that create premature termination codons and lead to the production of truncated or non-functional proteins.Gentamicin could induce readthrough of nonsense mutations and enable the synthesis of full-length proteins.We focus on previous publications on topical application of gentamicin and review its utility in genetic skin diseases.Data sources We search the MEDLINE through PubMed,EMBASE databases,and the Clinical Trials Registry Platform from January 1960 to July 2020 using the key search terms"gentamicin,topical gentamicin,genodermatosis,genetic skin diseases".Results The application of gentamicin in genodermatosis yielded promising results,both in vivo and in vitro,including Nagashima-type palmoplantar keratosis,epidermolysis bullosa,Hailey-Hailey disease,hereditary hypotrichosis simplex of the scalp,etc.Conclusions Topical gentamicin is a potential treatment option for genodermatosis caused by nonsense mutation.
文摘Objective: The aim of the present study was to evaluate the structural variations of nasal cavity in reference to frequency and types at the key area i.e. the ostiomeatal complex. Materials and Methods: Computed tomography of Paranasal sinuses of 50 patients was studied for clinical suspicion of various sinonasal pathologies. Results: The most commonly encountered anatomical variations in this study were Deviated Nasal Septum in 78% (39 patients), followed by Concha Bullosa in 36% (18 patients), Agger Nasi cell in 18% (nine patients), Pneumatised septum in 12% (six patients), Paradoxical Middle Turbinate and Septated Maxillary Sinus in 10% (five patients each) and Pneumatised Uncinate Process 6% (three patients). In quite a few patients we witnessed more than one variation. Conclusion: The anatomical variations in the nose and ostiomeatal complex are not uncommon, with the most frequent ones involving the nasal septum and the middle turbinate.
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Fungal infection usually involves the paranasal sinuses. This is a rare case of fungal mass in concha bullosa. A 19-year-old immunocompetent female patient presented with nasal obstruction. Anterior rhinoscopy revealed enlarged middle turbinate on left side. CT showed heterogenous opacity and enlargement of left middle turbinate. Intraoperatively, middle turbinate was found to be filled with cheesy material which was culture positive for Aspergillus fumigatus.
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.
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Angina bullosa hemorrhagica(ABH) is an enigmatic oral disorder described for the first time by Badham in 1967 to define blisters with a hematic content in the oralcavity and oropharynx unrelated to any hematological, dermatological or systemic disease. The ABH is an uncommon disease of the oral cavity distinctively affecting adults, with the highest incidence over the 5th decade of life. This process is considered nowadays to have a multifactorial etiopathogenesis, where mild oral traumatisms can trigger the blisters in susceptible individuals. Certain association on the onset of the lesion with the chronic use of inhaled steroids and, more controversially, with triggering systemic disorders, such as, diabetes or hypertension has been described. Characteristically, the ABH blisters are acute and are located on the lining mucosa, more frequently on the soft palate. Usually, the lesions are solitary and rupture easily, resulting in a superficial ulceration that heals quickly without scarring. The histopathological analysis shows a subepithelial blister containing blood and direct immunofluorescence on the epithelium is negative. The differential diagnosis should consider all oral vesiculobullous disorders with hematic content, including mucocutaneos, hematological or cystic pathology. The diagnosis of ABH is clearly clinical, although the biopsy might be helpful on atypical or abnormally recurrent cases. The general prognosis of ABH is good and the treatment is symptomatic.
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.
