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Epidermolysis bullosa

MedGen UID:
41832
•Concept ID:
C0014527
•
Congenital Abnormality
Synonyms: Acantholysis Bullosa; Epidermolysis Bullosa
SNOMED CT: Epidermolysis bullosa (61003004); Dermatitis bullosa hereditaria (61003004); Fox disease (61003004); Keratolysis bullosa hereditaria (61003004); Bullous recurrent eruption (61003004); Acantholysis bullosa (61003004); Acanthosis bullosa (61003004); EB - Epidermolysis bullosa (61003004)
 
Monarch Initiative: MONDO:0006541

Definition

An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis bullosa

Professional guidelines

PubMed

Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Chen F, Wei R, Deng D, Zhang X, Cao Y, Pan C, Wang Y, Cao Q, Wang J, Zeng M, Huang L, Gu Y, Yao Z, Li M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):411-419. Epub 2022 Nov 5 doi: 10.1111/jdv.18692. PMID: 36287101
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Suggested Reading

PubMed

Genetics of Skin Cancer (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389333
Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version.
PDQ Cancer Genetics Editorial Board
2002 PMID: 26389258

Recent clinical studies

Etiology

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Investigational Treatments for Epidermolysis Bullosa.
Hou PC, Wang HT, Abhee S, Tu WT, McGrath JA, Hsu CK
Am J Clin Dermatol 2021 Nov;22(6):801-817. Epub 2021 Jul 22 doi: 10.1007/s40257-021-00626-3. PMID: 34292508
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
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

Diagnosis

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Epidermolysis bullosa.
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
Inherited epidermolysis bullosa: update on the clinical and genetic aspects.
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

Therapy

Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study.
Kern JS, Sprecher E, Fernandez MF, Schauer F, Bodemer C, Cunningham T, Löwe S, Davis C, Sumeray M, Bruckner AL, Murrell DF; EASE investigators
Br J Dermatol 2023 Jan 23;188(1):12-21. doi: 10.1093/bjd/ljac001. PMID: 36689495
Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, Gonzalez F, Van Ligten M, Parry TJ, Chitra S, Kammerman LA, Krishnan S, Marinkovich MP
N Engl J Med 2022 Dec 15;387(24):2211-2219. doi: 10.1056/NEJMoa2206663. PMID: 36516090
Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.
Gurevich I, Agarwal P, Zhang P, Dolorito JA, Oliver S, Liu H, Reitze N, Sarma N, Bagci IS, Sridhar K, Kakarla V, Yenamandra VK, O'Malley M, Prisco M, Tufa SF, Keene DR, South AP, Krishnan SM, Marinkovich MP
Nat Med 2022 Apr;28(4):780-788. Epub 2022 Mar 28 doi: 10.1038/s41591-022-01737-y. PMID: 35347281Free PMC Article
Gene Therapy for Epidermolysis Bullosa.
Marinkovich MP, Tang JY
J Invest Dermatol 2019 Jun;139(6):1221-1226. Epub 2019 May 5 doi: 10.1016/j.jid.2018.11.036. PMID: 31068252

Prognosis

Epidermolysis bullosa acquisita.
Miyamoto D, Gordilho JO, Santi CG, Porro AM
An Bras Dermatol 2022 Jul-Aug;97(4):409-423. Epub 2022 Jun 11 doi: 10.1016/j.abd.2021.09.010. PMID: 35701269Free PMC Article
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Epidermolysis bullosa.
Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH
Nat Rev Dis Primers 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0. PMID: 32973163
Epidermolysis bullosa.
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R, Sadowski S, Uitto J, Pfendner E
J Med Genet 2007 Mar;44(3):181-92. Epub 2006 Sep 13 doi: 10.1136/jmg.2006.045302. PMID: 16971478Free PMC Article

Clinical prediction guides

Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa.
Guide SV, Gonzalez ME, Bağcı IS, Agostini B, Chen H, Feeney G, Steimer M, Kapadia B, Sridhar K, Quesada Sanchez L, Gonzalez F, Van Ligten M, Parry TJ, Chitra S, Kammerman LA, Krishnan S, Marinkovich MP
N Engl J Med 2022 Dec 15;387(24):2211-2219. doi: 10.1056/NEJMoa2206663. PMID: 36516090
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Drug Development in Pemphigoid Diseases.
Bieber K, Ludwig RJ
Acta Derm Venereol 2020 Feb 12;100(5):adv00055. doi: 10.2340/00015555-3400. PMID: 32039458Free PMC Article
Advancement in management of epidermolysis bullosa.
Cohn HI, Teng JM
Curr Opin Pediatr 2016 Aug;28(4):507-16. doi: 10.1097/MOP.0000000000000380. PMID: 27386970
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA
Acta Derm Venereol 2011 May;91(3):262-6. doi: 10.2340/00015555-1053. PMID: 21448560

Recent systematic reviews

Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
Brunsting-Perry pemphigoid: a systematic review.
Aromolo IF, Maronese CA, Moltrasio C, Genovese G, Marzano AV
Int J Dermatol 2022 Nov;61(11):1353-1358. Epub 2022 Jan 20 doi: 10.1111/ijd.16045. PMID: 35049061
Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review.
Martina E, Diotallevi F, Radi G, Campanati A, Offidani A
Toxins (Basel) 2021 Feb 5;13(2) doi: 10.3390/toxins13020120. PMID: 33562846Free PMC Article
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
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
Blistering diseases in neonates.
Zhao CY, Murrell DF
Curr Opin Pediatr 2016 Aug;28(4):500-6. doi: 10.1097/MOP.0000000000000381. PMID: 27386969

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      Clinical tests in GTR
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