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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

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
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
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

Recent clinical studies

Etiology

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
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
Has C, He Y
Cell Tissue Res 2017 Jul;369(1):63-73. Epub 2017 Apr 22 doi: 10.1007/s00441-017-2623-y. PMID: 28432467

Diagnosis

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
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
Laimer M, Prodinger C, Bauer JW
J Dtsch Dermatol Ges 2015 Nov;13(11):1125-33. doi: 10.1111/ddg.12774. PMID: 26513070

Therapy

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
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
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
Cobos G, Mu E, Cohen J, Beasley J, Brinster N, Femia A
Dermatol Online J 2017 Dec 15;23(12) PMID: 29447655
Kim JH, Kim SC
J Eur Acad Dermatol Venereol 2013 Oct;27(10):1204-13. Epub 2013 Feb 1 doi: 10.1111/jdv.12096. PMID: 23368767

Prognosis

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
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

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Bieber K, Ludwig RJ
Acta Derm Venereol 2020 Feb 12;100(5):adv00055. doi: 10.2340/00015555-3400. PMID: 32039458Free PMC Article
Caux F
Dermatol Clin 2011 Jul;29(3):485-91, x. doi: 10.1016/j.det.2011.03.017. PMID: 21605816
Bauer EA
Birth Defects Orig Artic Ser 1981;17(2):173-90. PMID: 6279204

Recent systematic reviews

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
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
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
Zhao CY, Murrell DF
Curr Opin Pediatr 2016 Aug;28(4):500-6. doi: 10.1097/MOP.0000000000000381. PMID: 27386969

Supplemental Content

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