U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Junctional epidermolysis bullosa

MedGen UID:
86898
Concept ID:
C0079301
Disease or Syndrome
Synonyms: Epidermolysis Bullosa Junctionalis, Disentis Type; Epidermolysis Bullosa Junctionalis, Severe Nonlethal; Epidermolysis Bullosa, Generalized Atrophic Benign; Epidermolysis Bullosa, Junctional; Junctional Epidermolysis Bullosa
SNOMED CT: Congenital junctional epidermolysis bullosa (79855003); Junctional epidermolysis bullosa (399971009)
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).
 
Related genes: LAMC2, LAMB3, LAMA3
 
Monarch Initiative: MONDO:0017612
OMIM®: 226650
OMIM® Phenotypic series: PS226650
Orphanet: ORPHA305

Disease characteristics

Excerpted from the GeneReview: Junctional Epidermolysis Bullosa
Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. [from GeneReviews]
Authors:
Ellen G Pfendner  |  Anne W Lucky   view full author information

Additional description

From MedlinePlus Genetics
Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: JEB generalized severe (formerly known as Herlitz JEB) and JEB generalized intermediate (formerly known as non-Herlitz JEB). Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.

JEB generalized severe is the more serious form of the condition. From birth or early infancy, affected individuals have blistering over large regions of the body. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. As a result, many affected children are undernourished and grow slowly. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Granulation tissue bleeds easily and profusely, making affected infants susceptible to serious infections and loss of necessary proteins, minerals, and fluids. Additionally, a buildup of granulation tissue in the airway can lead to a weak, hoarse cry and difficulty breathing.

Other complications of JEB generalized severe can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities (contractures) that limit movement, hair loss (alopecia), and thinning of the protective outer layer (enamel) of the teeth. Because the signs and symptoms of JEB generalized severe are so serious, infants with this condition usually do not survive beyond the first year of life.

The milder form of junctional epidermolysis bullosa is called JEB generalized intermediate. The blistering associated with JEB generalized intermediate may be limited to the hands, feet, knees, and elbows, and it often improves after the newborn period. Other characteristic features of this form of the condition include hair loss, abnormal fingernails and toenails, and irregular tooth enamel. Most affected individuals do not have extensive scarring or granulation tissue formation, so breathing difficulties and other severe complications are rare. JEB generalized intermediate is typically associated with a normal lifespan.  https://medlineplus.gov/genetics/condition/junctional-epidermolysis-bullosa

Professional guidelines

PubMed

Wen D, Hunjan M, Bardhan A, Harper N, Ogboli M, Ozoemena L, Liu L, Fine JD, Chapple I, Balacco DL, Heagerty A
J Invest Dermatol 2024 Jun;144(6):1334-1343.e14. Epub 2023 Dec 28 doi: 10.1016/j.jid.2023.11.021. PMID: 38157931
Hammersen J, Neuner A, Wild F, Schneider H
Dermatology 2019;235(4):315-322. Epub 2019 May 27 doi: 10.1159/000499906. PMID: 31132778
Yang CS, Kroshinksy D, Cummings BM
Am J Clin Dermatol 2014 Oct;15(5):445-50. doi: 10.1007/s40257-014-0091-7. PMID: 25117154

Suggested Reading

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
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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, Lanschuetzer CM, Diem A, Bauer JW
Dermatol Clin 2010 Jan;28(1):55-60. doi: 10.1016/j.det.2009.10.006. PMID: 19945616
Francis JS
Curr Opin Pediatr 1994 Aug;6(4):447-53. doi: 10.1097/00008480-199408000-00016. PMID: 7951667

Diagnosis

Patzelt S, Schmidt E
Front Immunol 2023;14:1250115. Epub 2023 Aug 10 doi: 10.3389/fimmu.2023.1250115. PMID: 37638011Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
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
Yancey KB, Hintner H
Dermatol Clin 2010 Jan;28(1):67-77. doi: 10.1016/j.det.2009.10.008. PMID: 19945618
Laimer M, Lanschuetzer CM, Diem A, Bauer JW
Dermatol Clin 2010 Jan;28(1):55-60. doi: 10.1016/j.det.2009.10.006. PMID: 19945616

Therapy

Heo YA
Drugs 2023 Sep;83(14):1309-1314. Epub 2023 Sep 2 doi: 10.1007/s40265-023-01935-z. PMID: 37658982
Niebergall-Roth E, Frank NY, Ganss C, Frank MH, Kluth MA
Int J Mol Sci 2022 Dec 21;24(1) doi: 10.3390/ijms24010066. PMID: 36613507Free PMC Article
Keith AR, Twaroski K, Ebens CL, Tolar J
Expert Opin Biol Ther 2020 Aug;20(8):911-923. Epub 2020 Mar 20 doi: 10.1080/14712598.2020.1740678. PMID: 32178539Free PMC Article
Abdul-Wahab A, Qasim W, McGrath JA
Semin Cutan Med Surg 2014 Jun;33(2):83-90. doi: 10.12788/j.sder.0085. PMID: 25085667
Ferrari S, Pellegrini G, Matsui T, Mavilio F, De Luca M
Rev Recent Clin Trials 2006 May;1(2):155-62. doi: 10.2174/157488706776876472. PMID: 18473966

Prognosis

Trefzer L, Schwieger-Briel A, Nyström A, Conradt G, Pohl M, Miernik A, Has C
JAMA Dermatol 2022 Sep 1;158(9):1057-1062. doi: 10.1001/jamadermatol.2022.2885. PMID: 35921091Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Nishie W
Acta Derm Venereol 2020 Feb 12;100(5):adv00054. doi: 10.2340/00015555-3399. PMID: 32039455Free PMC Article
Yang CS, Kroshinksy D, Cummings BM
Am J Clin Dermatol 2014 Oct;15(5):445-50. doi: 10.1007/s40257-014-0091-7. PMID: 25117154
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

Wen D, Hunjan M, Bardhan A, Harper N, Ogboli M, Ozoemena L, Liu L, Fine JD, Chapple I, Balacco DL, Heagerty A
J Invest Dermatol 2024 Jun;144(6):1334-1343.e14. Epub 2023 Dec 28 doi: 10.1016/j.jid.2023.11.021. PMID: 38157931
Kiener S, Troyer H, Ruvolo D, Grest P, Soto S, Letko A, Jagannathan V, Leeb T, Mauldin EA, Yang C, Rostaher A
Genes (Basel) 2023 Sep 22;14(10) doi: 10.3390/genes14101835. PMID: 37895184Free PMC Article
Patzelt S, Schmidt E
Front Immunol 2023;14:1250115. Epub 2023 Aug 10 doi: 10.3389/fimmu.2023.1250115. PMID: 37638011Free PMC Article
Hon KL, Chu S, Leung AKC
Curr Pediatr Rev 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. PMID: 34036913
Bruckner-Tuderman L
Exp Dermatol 1992 Oct;1(3):115-20. doi: 10.1111/j.1600-0625.1992.tb00001.x. PMID: 1365310

Recent systematic reviews

Tosto V, Herrero B, Illescas T, De la Calle Fernandez-Miranda M, Moreno-Sanz B, de Lucas R, Bartha JL, Antolin E
Eur J Obstet Gynecol Reprod Biol 2023 Nov;290:43-50. Epub 2023 Aug 24 doi: 10.1016/j.ejogrb.2023.08.379. PMID: 37717401
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
Nunez-Villaveiran T, Feasel P, Keenan S, Aliotta R, Bosler D, Stearns D, Bergfeld W, Gurunluoglu R
J Plast Reconstr Aesthet Surg 2019 Jan;72(1):23-34. Epub 2018 Jun 9 doi: 10.1016/j.bjps.2018.05.018. PMID: 29983364
Mylonas KS, Hayes M, Ko LN, Griggs CL, Kroshinsky D, Masiakos PT
J Pediatr Surg 2019 Jul;54(7):1351-1358. Epub 2018 May 29 doi: 10.1016/j.jpedsurg.2018.05.019. PMID: 29935895

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...