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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

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
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
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
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: 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
Hereditary epidermolysis bullosa.
Haber RM, Hanna W, Ramsay CA, Boxall LB
J Am Acad Dermatol 1985 Aug;13(2 Pt 1):252-78. doi: 10.1016/s0190-9622(85)70168-5. PMID: 3900157
Epidermolysis bullosa.
Bauer EA
Birth Defects Orig Artic Ser 1981;17(2):173-90. PMID: 6279204

Diagnosis

Epidermolysis bullosa.
Nat Rev Dis Primers 2020 Sep 24;6(1):79. doi: 10.1038/s41572-020-00220-7. PMID: 32973138
Epidermolysis bullosa acquisita.
Cobos G, Mu E, Cohen J, Beasley J, Brinster N, Femia A
Dermatol Online J 2017 Dec 15;23(12) PMID: 29447655
Epidermolysis bullosa.
McGrath JA, Mellerio JE
Br J Hosp Med (Lond) 2006 Apr;67(4):188-91. doi: 10.12968/hmed.2006.67.4.20864. PMID: 16681305
Epidermolysis bullosa.
Sedano HO, Gorlin RJ
Oral Surg Oral Med Oral Pathol 1989 May;67(5):555-63. doi: 10.1016/0030-4220(89)90272-7. PMID: 2654799
Epidermolysis bullosa.
Kero M, Niemi KM
Int J Dermatol 1986 Mar;25(2):75-82. doi: 10.1111/j.1365-4362.1986.tb04542.x. PMID: 3009337

Therapy

Epidermolysis bullosa acquisita.
Cobos G, Mu E, Cohen J, Beasley J, Brinster N, Femia A
Dermatol Online J 2017 Dec 15;23(12) PMID: 29447655
Epidermolysis bullosa acquisita.
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
Hereditary epidermolysis bullosa.
Haber RM, Hanna W, Ramsay CA, Boxall LB
J Am Acad Dermatol 1985 Aug;13(2 Pt 1):252-78. doi: 10.1016/s0190-9622(85)70168-5. PMID: 3900157
Epidermolysis bullosa.
Gorlin RJ
Oral Surg Oral Med Oral Pathol 1971 Nov;32(5):760-6. doi: 10.1016/0030-4220(71)90302-1. PMID: 4938750
Hereditary epidermolysis bullosa.
J Pediatr 1969 Apr;74(4):655-7. doi: 10.1016/s0022-3476(69)80055-7. PMID: 4304438

Prognosis

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
Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.
Woodley DT, Chen M
J Invest Dermatol 2015 Jul;135(7):1705-1707. doi: 10.1038/jid.2015.149. PMID: 26066885
Laryngo-onycho-cutaneous syndrome.
Cohn HI, Murrell DF
Dermatol Clin 2010 Jan;28(1):89-92. doi: 10.1016/j.det.2009.10.010. PMID: 19945620

Clinical prediction guides

Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Subepithelial autoimmune bullous dermatoses disease activity assessment and therapy.
Montagnon CM, Lehman JS, Murrell DF, Camilleri MJ, Tolkachjov SN
J Am Acad Dermatol 2021 Jul;85(1):18-27. Epub 2021 Mar 5 doi: 10.1016/j.jaad.2020.05.161. PMID: 33684494
Host-pathogen interactions in epidermolysis bullosa patients colonized with Staphylococcus aureus.
van der Kooi-Pol MM, Duipmans JC, Jonkman MF, van Dijl JM
Int J Med Microbiol 2014 Mar;304(2):195-203. Epub 2013 Dec 1 doi: 10.1016/j.ijmm.2013.11.012. PMID: 24444717
Nail involvement in epidermolysis bullosa.
Tosti A, de Farias DC, Murrell DF
Dermatol Clin 2010 Jan;28(1):153-7. doi: 10.1016/j.det.2009.10.017. PMID: 19945629
Epidermolysis bullosa.
Bauer EA
Birth Defects Orig Artic Ser 1981;17(2):173-90. PMID: 6279204

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
Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.
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
Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines.
Mellerio JE, Robertson SJ, Bernardis C, Diem A, Fine JD, George R, Goldberg D, Halmos GB, Harries M, Jonkman MF, Lucky A, Martinez AE, Maubec E, Morris S, Murrell DF, Palisson F, Pillay EI, Robson A, Salas-Alanis JC, McGrath JA
Br J Dermatol 2016 Jan;174(1):56-67. Epub 2015 Nov 7 doi: 10.1111/bjd.14104. PMID: 26302137

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    Related information

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    • GTR(Clinical)
      Clinical tests in GTR
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