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Inherited epidermolysis bullosa

MedGen UID:
697573
Concept ID:
C1274224
Congenital Abnormality
Synonyms: Epidermolysis bullosa hereditaria; epidermolysis bullosa hereditaria; Hereditary epidermolysis bullosa; hereditary epidermolysis bullosa; inherited epidermolysis bullosa
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0019276
Orphanet: ORPHA79361

Definition

Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInherited epidermolysis bullosa
Follow this link to review classifications for Inherited epidermolysis bullosa in Orphanet.

Professional guidelines

PubMed

Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D
Drugs 2022 Aug;82(12):1277-1285. Epub 2022 Sep 8 doi: 10.1007/s40265-022-01770-8. PMID: 36074321
Salera S, Tadini G, Rossetti D, Grassi FS, Marchisio P, Agostoni C, Giavoli C, Rodari G, Guez S
Clin Nutr 2020 Feb;39(2):343-352. Epub 2019 Feb 21 doi: 10.1016/j.clnu.2019.02.023. PMID: 30857908
Chan JM, Weisman A, King A, Maksomski S, Shotwell C, Bailie C, Weaver H, Bodan R, Guerrero E, Zmazek M, Khuu P
Orphanet J Rare Dis 2019 Jun 7;14(1):129. doi: 10.1186/s13023-019-1059-8. PMID: 31174559Free PMC Article

Recent clinical studies

Etiology

Bachir Y, Daruich A, Marie C, Robert MP, Bremond-Gignac D
Drugs 2022 Aug;82(12):1277-1285. Epub 2022 Sep 8 doi: 10.1007/s40265-022-01770-8. PMID: 36074321
Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE
An Bras Dermatol 2020 Sep-Oct;95(5):551-569. Epub 2020 Jul 8 doi: 10.1016/j.abd.2020.05.001. PMID: 32732072Free PMC Article
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE
Br J Dermatol 2020 Oct;183(4):614-627. Epub 2020 Mar 11 doi: 10.1111/bjd.18921. PMID: 32017015
Has C, Fischer J
Exp Dermatol 2019 Oct;28(10):1146-1152. Epub 2018 Jun 28 doi: 10.1111/exd.13668. PMID: 29679399
El Hachem M, Giancristoforo S, Diociaiuti A
G Ital Dermatol Venereol 2014 Dec;149(6):651-62. Epub 2014 Oct 3 PMID: 25279494

Diagnosis

Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE
An Bras Dermatol 2020 Sep-Oct;95(5):551-569. Epub 2020 Jul 8 doi: 10.1016/j.abd.2020.05.001. PMID: 32732072Free PMC Article
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE
Br J Dermatol 2020 Oct;183(4):614-627. Epub 2020 Mar 11 doi: 10.1111/bjd.18921. PMID: 32017015
El Hachem M, Giancristoforo S, Diociaiuti A
G Ital Dermatol Venereol 2014 Dec;149(6):651-62. Epub 2014 Oct 3 PMID: 25279494
Fine JD
Orphanet J Rare Dis 2010 May 28;5:12. doi: 10.1186/1750-1172-5-12. PMID: 20507631Free PMC Article
Abahussein AA, al-Zayir AA, Mostafa WZ, Okoro AN
Int J Dermatol 1993 Aug;32(8):561-8. doi: 10.1111/j.1365-4362.1993.tb05023.x. PMID: 8407069

Therapy

Santin JT, Mariath LM, Rossato AM, Schuler-Faccini L, Kiszewski AE
Int J Dermatol 2021 Sep;60(9):1126-1130. Epub 2021 May 28 doi: 10.1111/ijd.15634. PMID: 34047367
Chan JM, Weisman A, King A, Maksomski S, Shotwell C, Bailie C, Weaver H, Bodan R, Guerrero E, Zmazek M, Khuu P
Orphanet J Rare Dis 2019 Jun 7;14(1):129. doi: 10.1186/s13023-019-1059-8. PMID: 31174559Free PMC Article
Fine JD
Ann N Y Acad Sci 2010 Apr;1194:213-22. doi: 10.1111/j.1749-6632.2010.05463.x. PMID: 20536471
Langan SM, Williams HC
Clin Exp Dermatol 2009 Jan;34(1):20-5. Epub 2008 Sep 25 doi: 10.1111/j.1365-2230.2008.02789.x. PMID: 18828848
Fine JD, Hall M, Weiner M, Li KP, Suchindran C
Br J Dermatol 2008 Sep;159(3):677-82. Epub 2008 Jul 4 doi: 10.1111/j.1365-2133.2008.08697.x. PMID: 18616785Free PMC Article

Prognosis

Arline Diana I, Tan EC, Gondokaryono SP, Koh MJ, Dwiyana RF, Rahardja JI, Yogya Y, Rafi'ee K, Suwarsa O
Australas J Dermatol 2023 Nov;64(4):e327-e332. Epub 2023 Jul 14 doi: 10.1111/ajd.14121. PMID: 37452458
Esposito S, Guez S, Manzoni F, Bosco A, Rigante D
Immunol Res 2015 Feb;61(1-2):63-9. doi: 10.1007/s12026-014-8583-3. PMID: 25412732
Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF, Leigh I, Marinkovich MP, Martinez AE, McGrath JA, Mellerio JE, Moss C, Murrell DF, Shimizu H, Uitto J, Woodley D, Zambruno G
J Am Acad Dermatol 2014 Jun;70(6):1103-26. Epub 2014 Mar 29 doi: 10.1016/j.jaad.2014.01.903. PMID: 24690439
Fine JD
Curr Opin Pediatr 2010 Aug;22(4):453-8. doi: 10.1097/MOP.0b013e32833bb74f. PMID: 20616732
Fine JD
Orphanet J Rare Dis 2010 May 28;5:12. doi: 10.1186/1750-1172-5-12. PMID: 20507631Free PMC Article

Clinical prediction guides

Bourrat E, Taieb C, Marquié A, Causse P, Bergqvist C, Sauvestre A, Bellon N
J Eur Acad Dermatol Venereol 2023 Jan;37(1):194-203. Epub 2022 Sep 7 doi: 10.1111/jdv.18554. PMID: 35994204
Chiaverini C, Marty M, Dridi SM, Campana SC, Canceill T, Bailleul-Forestier I, Verhaeghe V, Declerck D, Hubiche T, Kémoun P, Mazereeuw-Hautier J, Joseph C
J Am Acad Dermatol 2022 Oct;87(4):872-874. Epub 2021 Nov 25 doi: 10.1016/j.jaad.2021.11.039. PMID: 34838879
Yenamandra VK, Moss C, Sreenivas V, Khan M, Sivasubbu S, Sharma VK, Sethuraman G
Br J Dermatol 2017 Jun;176(6):1624-1632. Epub 2017 May 5 doi: 10.1111/bjd.15221. PMID: 27925151
Esposito S, Guez S, Orenti A, Tadini G, Scuvera G, Corti L, Scala A, Biganzoli E, Berti E, Principi N
Int J Mol Sci 2016 Sep 24;17(10) doi: 10.3390/ijms17101625. PMID: 27669234Free PMC Article
Annicchiarico G, Morgese MG, Esposito S, Lopalco G, Lattarulo M, Tampoia M, Bonamonte D, Brunetti L, Vitale A, Lapadula G, Cantarini L, Iannone F
Medicine (Baltimore) 2015 Oct;94(42):e1528. doi: 10.1097/MD.0000000000001528. PMID: 26496255Free PMC Article

Recent systematic reviews

Krämer S, Lucas J, Gamboa F, Peñarrocha Diago M, Peñarrocha Oltra D, Guzmán-Letelier M, Paul S, Molina G, Sepúlveda L, Araya I, Soto R, Arriagada C, Lucky AW, Mellerio JE, Cornwall R, Alsayer F, Schilke R, Antal MA, Castrillón F, Paredes C, Serrano MC, Clark V
Spec Care Dentist 2020 Nov;40 Suppl 1(Suppl 1):3-81. doi: 10.1111/scd.12511. PMID: 33202040Free PMC Article
Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour JP
Orphanet J Rare Dis 2016 Aug 20;11(1):117. doi: 10.1186/s13023-016-0489-9. PMID: 27544590Free PMC Article
Langan SM, Williams HC
Clin Exp Dermatol 2009 Jan;34(1):20-5. Epub 2008 Sep 25 doi: 10.1111/j.1365-2230.2008.02789.x. PMID: 18828848

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