"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.[3]
The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering.[citation needed] Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may have chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also have iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.[citation needed]
Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections.[citation needed] The chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.[citation needed]
The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause small fiber peripheral neuropathy (SFN);[4] RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.[5]
Causesedit
DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).[6] DEB-causing mutations can be either dominant or recessive.[citation needed] Most families with family members with this condition have distinct mutations.[7]
Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.[citation needed]
Pathophysiologyedit
In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita.[8]
There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the epidermis or the basement membrane at the junction between the epidermis and the dermis.[9]
Also known as "Hallopeau–Siemens variant of epidermolysis bullosa"[12] and "Hallopeau–Siemens disease",[13] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.[14][11] It is named for François Henri Hallopeau and Hermann Werner Siemens.
In May 2023, the FDA approved Vyjuvek for the treatment of wounds in people with dystrophic epidermolysis bullosa with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene.[15][16]
^Reference, Genetics Home. "dystrophic epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-04-03.
^Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
^Pittman, Taylor (2015-04-21). "'Butterfly Child' With Rare, Painful Condition Displays Strength That Will Blow You Away". Huffington Post. Retrieved 2017-07-14.
^[1], Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
^Varki, R.; Sadowski, S.; Uitto, J.; Pfendner, E. (March 2007). "Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes". Journal of Medical Genetics. 44 (3): 181–92. doi:10.1136/jmg.2006.045302. PMC2598021. PMID 16971478.
^Csikós, M.; Szőcs, H. I.; Lászik, A.; Mecklenbeck, S.; Horváth, A.; Kárpáti, S.; Bruckner-Tuderman, L. (May 2005). "High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa". British Journal of Dermatology. 152 (5): 879–886. doi:10.1111/j.1365-2133.2005.06542.x. PMID 15888141. S2CID 44394902.
^Mihai, Sidonia; Sitaru, Cassian (May–June 2007). "Immunopathology and molecular diagnosis of autoimmune bullous diseases". Journal of Cellular and Molecular Medicine. 11 (3): 462–481. doi:10.1111/j.1582-4934.2007.00033.x. PMC3922353. PMID 17521373.
^Fine, Jo-David; Eady, Robin A. J.; Bauer, Eugene A.; Bauer, Johann W.; Bruckner-Tuderman, Leena; Heagerty, Adrian; Hintner, Helmut; Hovnanian, Alain; Jonkman, Marcel F.; Leigh, Irene; McGrath, John A.; Mellerio, Jemima E.; Murrell, Dedee F.; Shimizu, Hiroshi; Uitto, Jouni; Vahlquist, Anders; Woodley, David; Zambruno, Giovanna (2008). "The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB". Journal of the American Academy of Dermatology. 58 (6): 931–950. doi:10.1016/j.jaad.2008.02.004. PMID 18374450.
^Commissioner, Office of the (2023-05-19). "FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa". FDA. Retrieved 2023-06-01.
^Research, Center for Biologics Evaluation and (2023-05-19). "VYJUVEK". FDA.
Sourcesedit
Freedberg, Irwin M.; Eisen, Arthur Z.; Wolff, Klauss; Austen, K. Frank; Goldsmith, Lowell A.; Katz, Stephen I., eds. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN978-0-07-138076-8.
James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN978-0-7216-2921-6.
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN978-1-4160-2999-1.
epidermolysis, bullosa, dystrophica, dystrophic, inherited, disease, affecting, skin, other, organs, other, namesdystrophic, ebthe, legs, individual, with, dystrophic, epidermolysis, bullosa, specialtymedical, genetics, butterfly, child, colloquial, name, chil. Epidermolysis bullosa dystrophica or dystrophic EB DEB is an inherited disease affecting the skin and other organs 1 2 Epidermolysis bullosa dystrophicaOther namesDystrophic EBThe legs of an individual with dystrophic epidermolysis bullosa SpecialtyMedical genetics Butterfly child is the colloquial name for a child born with the disease as their skin is seen to be as delicate and fragile as the wings of a butterfly 3 Contents 1 Signs and symptoms 2 Causes 3 Pathophysiology 4 Diagnosis 4 1 Classification 5 Treatment 6 See also 7 References 7 1 Sources 8 External linksSigns and symptoms editThe deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis The skin of DEB patients is thus highly susceptible to severe blistering citation needed Collagen VII is also associated with the epithelium of the esophageal lining and DEB patients may have chronic scarring webbing and obstruction of the esophagus Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition They also have iron deficiency anemia of uncertain origin which leads to chronic fatigue citation needed Open wounds on the skin heal slowly or not at all often scarring extensively and are particularly susceptible to infection Many individuals bathe in a bleach and water mixture to fight off these infections citation needed The chronic inflammation leads to errors in the DNA of the affected skin cells which in turn causes squamous cell carcinoma SCC The majority of these patients die before the age of 30 either of SCC or complications related to DEB citation needed The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa RDEB may cause small fiber peripheral neuropathy SFN 4 RDEB patients have reported the sensation of pain in line with neuropathic pain qualities 5 Causes editDEB is caused by genetic defects or mutations within the human COL7A1 gene encoding the protein type VII collagen collagen VII 6 DEB causing mutations can be either dominant or recessive citation needed Most families with family members with this condition have distinct mutations 7 Collagen VII is a very large molecule 300 kDa that dimerizes to form a semicircular looping structure the anchoring fibril Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis citation needed Pathophysiology editIn the absence of mutations of the COL7A1 gene an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita 8 There exist other types of inherited epidermolysis bullosa junctional epidermolysis bullosa and epidermolysis bullosa simplex which are not related to type VII collagen deficiency These arise from mutations in the genes encoding other proteins of the epidermis or the basement membrane at the junction between the epidermis and the dermis 9 Diagnosis editClassification edit Name Locus amp Gene OMIMDominant dystrophic epidermolysis bullosa DDEB Also known as Cockayne Touraine disease this variant is characterized by vesicles and bullae on the extensor surfaces of the extremities 10 11 3p21 3 COL7A1 131750Recessive dystrophic epidermolysis bullosa RDEB Also known as Hallopeau Siemens variant of epidermolysis bullosa 12 and Hallopeau Siemens disease 13 this variant results from mutations in the gene encoding type VII collagen COL7A1 characterized by debilitating oral lesions that produce pain scarring and microstomia 14 11 It is named for Francois Henri Hallopeau and Hermann Werner Siemens 3q22 q23 COL7A1 3p21 3 MMP1 226600Epidermolysis bullosa dystrophica pretibial 3p21 3 COL7A1 131850Epidermolysis bullosa pruriginosa 3p21 3 COL7A1 604129Epidermolysis bullosa with congenital localized absence of skin and deformity of nails 3p21 3 COL7A1 132000Transient bullous dermolysis of the newborn TBDN 3p21 3 COL7A1 131705Treatment editIn May 2023 the FDA approved Vyjuvek for the treatment of wounds in people with dystrophic epidermolysis bullosa with mutation s in the collagen type VII alpha 1 chain COL7A1 gene 15 16 See also editEpidermolysis bullosaReferences edit Reference Genetics Home dystrophic epidermolysis bullosa Genetics Home Reference Retrieved 2017 04 03 Bardhan Ajoy Bruckner Tuderman Leena Chapple Iain L C Fine Jo David Harper Natasha Has Cristina Magin Thomas M Marinkovich M Peter Marshall John F McGrath John A Mellerio Jemima E 2020 09 24 Epidermolysis bullosa Nature Reviews Disease Primers 6 1 78 doi 10 1038 s41572 020 0210 0 ISSN 2056 676X PMID 32973163 S2CID 221861310 Pittman Taylor 2015 04 21 Butterfly Child With Rare Painful Condition Displays Strength That Will Blow You Away Huffington Post Retrieved 2017 07 14 1 Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy Schrader NHB Yuen WY Jonkman MF 2018 Pain Quality Assessment Scale for Epidermolysis Bullosa Acta Derm Venereol 98 3 346 349 doi 10 2340 00015555 2827 PMID 29057428 a href Template Cite journal html title Template Cite journal cite journal a CS1 maint multiple names authors list link Varki R Sadowski S Uitto J Pfendner E March 2007 Epidermolysis bullosa II Type VII collagen mutations and phenotype genotype correlations in the dystrophic subtypes Journal of Medical Genetics 44 3 181 92 doi 10 1136 jmg 2006 045302 PMC 2598021 PMID 16971478 Csikos M Szocs H I Laszik A Mecklenbeck S Horvath A Karpati S Bruckner Tuderman L May 2005 High frequency of the 425A G splice site mutation and novel mutations of the COL7A1 gene in central Europe significance for future mutation detection strategies in dystrophic epidermolysis bullosa British Journal of Dermatology 152 5 879 886 doi 10 1111 j 1365 2133 2005 06542 x PMID 15888141 S2CID 44394902 Mihai Sidonia Sitaru Cassian May June 2007 Immunopathology and molecular diagnosis of autoimmune bullous diseases Journal of Cellular and Molecular Medicine 11 3 462 481 doi 10 1111 j 1582 4934 2007 00033 x PMC 3922353 PMID 17521373 Fine Jo David Eady Robin A J Bauer Eugene A Bauer Johann W Bruckner Tuderman Leena Heagerty Adrian Hintner Helmut Hovnanian Alain Jonkman Marcel F Leigh Irene McGrath John A Mellerio Jemima E Murrell Dedee F Shimizu Hiroshi Uitto Jouni Vahlquist Anders Woodley David Zambruno Giovanna 2008 The classification of inherited epidermolysis bullosa EB Report of the Third International Consensus Meeting on Diagnosis and Classification of EB Journal of the American Academy of Dermatology 58 6 931 950 doi 10 1016 j jaad 2008 02 004 PMID 18374450 James Berger amp Elston 2005 p 558 a b Freedberg et al 2003 p 601 Freedberg et al 2003 Rapini Bolognia amp Jorizzo 2007 p 458 James Berger amp Elston 2005 pp 558 9 Commissioner Office of the 2023 05 19 FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa FDA Retrieved 2023 06 01 Research Center for Biologics Evaluation and 2023 05 19 VYJUVEK FDA Sources edit Freedberg Irwin M Eisen Arthur Z Wolff Klauss Austen K Frank Goldsmith Lowell A Katz Stephen I eds 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill ISBN 978 0 07 138076 8 James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders ISBN 978 0 7216 2921 6 Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 External links editebd at NIH UW GeneTests Retrieved from https en wikipedia org w index php title Epidermolysis bullosa dystrophica amp oldid 1182495954, wikipedia, wiki, book, books, library,
