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Epidermolysis bullosa, junctional(GABEB)

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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Congenital junctional epidermolysis bullosa (79855003); Junctional epidermolysis bullosa (399971009)
 
Related genes: LAMC2, LAMB3, LAMA3, ITGB4, COL17A1
OMIM®: 226650
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 GHR
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://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa

Recent clinical studies

Etiology

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J
Hum Mutat 2018 Oct;39(10):1349-1354. Epub 2018 Aug 3 doi: 10.1002/humu.23592. PMID: 30016581
Alhumidi A
Appl Immunohistochem Mol Morphol 2018 Sep;26(8):586-590. doi: 10.1097/PAI.0000000000000471. PMID: 27941563
Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, Metzler M, Bruckner-Tuderman L, Schneider H
J Invest Dermatol 2016 Nov;136(11):2150-2157. Epub 2016 Jun 29 doi: 10.1016/j.jid.2016.06.609. PMID: 27375110
Mayer B, Silló P, Mazán M, Pintér D, Medvecz M, Has C, Castiglia D, Petit F, Charlesworth A, Hatvani Z, Pamjav H, Kárpáti S
Br J Dermatol 2016 Oct;175(4):721-7. Epub 2016 Aug 8 doi: 10.1111/bjd.14646. PMID: 27062385
Yuen WY, Huizinga J, Jonkman MF
J Am Acad Dermatol 2013 Jan;68(1):93-7, 97.e1-2. Epub 2012 May 26 doi: 10.1016/j.jaad.2012.04.012. PMID: 22633040

Diagnosis

Hoffmann J, Casetti F, Reimer A, Leppert J, Grüninger G, Has C
Acta Derm Venereol 2019 Apr 1;99(4):460-461. doi: 10.2340/00015555-3133. PMID: 30673110
Ko L, Griggs CL, Mylonas KS, Masiakos PT, Kroshinsky D
J Pediatr 2018 Feb;193:261-264.e1. Epub 2017 Dec 1 doi: 10.1016/j.jpeds.2017.09.023. PMID: 29198538
Alhumidi A
Appl Immunohistochem Mol Morphol 2018 Sep;26(8):586-590. doi: 10.1097/PAI.0000000000000471. PMID: 27941563
Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, Metzler M, Bruckner-Tuderman L, Schneider H
J Invest Dermatol 2016 Nov;136(11):2150-2157. Epub 2016 Jun 29 doi: 10.1016/j.jid.2016.06.609. PMID: 27375110
Kiritsi D, Huilaja L, Franzke CW, Kokkonen N, Pazzagli C, Schwieger-Briel A, Larmas M, Bruckner-Tuderman L, Has C, Tasanen K
Acta Derm Venereol 2015 Sep;95(7):849-51. doi: 10.2340/00015555-2073. PMID: 25708563

Therapy

Reimer A, Laszig R, Pfeiffer J, Eberwein P, Mittelviefhaus H, Bruckner-Tuderman L, Has C
Acta Derm Venereol 2018 Jul 11;98(7):711-712. doi: 10.2340/00015555-2934. PMID: 29963681
Chiaverini C, Passeron T, Lacour JP
J Am Acad Dermatol 2016 Dec;75(6):e223-e224. doi: 10.1016/j.jaad.2016.08.005. PMID: 27846969
Boesen ML, Bygum A, Hertz JM, Zachariassen G
BMJ Case Rep 2016 Apr 26;2016 doi: 10.1136/bcr-2016-214727. PMID: 27118747Free PMC Article
Melo SP, Lisowski L, Bashkirova E, Zhen HH, Chu K, Keene DR, Marinkovich MP, Kay MA, Oro AE
Mol Ther 2014 Apr;22(4):725-33. Epub 2014 Jan 6 doi: 10.1038/mt.2013.290. PMID: 24390279Free PMC Article
Pérez A, Almaani N, Stefanato CM, BhogaL B, Groves RW, Mellerio JE, McGrath JA
Clin Exp Dermatol 2010 Dec;35(8):881-4. doi: 10.1111/j.1365-2230.2010.03828.x. PMID: 20456391

Prognosis

Srinivasan S, Sharawat IK, Saini L
Indian Pediatr 2018 Dec 15;55(12):1107-1108. PMID: 30745488
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J
Hum Mutat 2018 Oct;39(10):1349-1354. Epub 2018 Aug 3 doi: 10.1002/humu.23592. PMID: 30016581
Rotemberg V, Garzon M, Lauren C, Iglesias A, Brachio SS, Aggarwal V, Stong N, Goldstein DB, Diacovo T
J Pediatr 2017 Dec;191:266-269.e1. doi: 10.1016/j.jpeds.2017.08.029. PMID: 29173316
Hammersen J, Has C, Naumann-Bartsch N, Stachel D, Kiritsi D, Söder S, Tardieu M, Metzler M, Bruckner-Tuderman L, Schneider H
J Invest Dermatol 2016 Nov;136(11):2150-2157. Epub 2016 Jun 29 doi: 10.1016/j.jid.2016.06.609. PMID: 27375110
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

Clinical prediction guides

Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J
Hum Mutat 2018 Oct;39(10):1349-1354. Epub 2018 Aug 3 doi: 10.1002/humu.23592. PMID: 30016581
Gostyńska KB, Yan Yuen W, Pasmooij AM, Stellingsma C, Pas HH, Lemmink H, Jonkman MF
Eur J Hum Genet 2016 Jan;25(1):94-99. Epub 2016 Nov 9 doi: 10.1038/ejhg.2016.136. PMID: 27827380Free PMC Article
Melo SP, Lisowski L, Bashkirova E, Zhen HH, Chu K, Keene DR, Marinkovich MP, Kay MA, Oro AE
Mol Ther 2014 Apr;22(4):725-33. Epub 2014 Jan 6 doi: 10.1038/mt.2013.290. PMID: 24390279Free PMC Article
Kittridge A, Patel R, Novoa R, Tamburro J
Pediatr Dermatol 2014 Jul-Aug;31(4):530-2. Epub 2012 Dec 26 doi: 10.1111/pde.12018. PMID: 23278291
Yuen WY, Duipmans JC, Molenbuur B, Herpertz I, Mandema JM, Jonkman MF
Br J Dermatol 2012 Aug;167(2):374-82. Epub 2012 Jul 5 doi: 10.1111/j.1365-2133.2012.10997.x. PMID: 22512697

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