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Epidermolysis Bullosa, Junctional, with Pyloric Atresia

MedGen UID:
384018
•Concept ID:
C1856934
•
Disease or Syndrome
Synonyms: Aplasia cutis congenita with gastrointestinal atresia; Carmi syndrome; Eb-Pa; Epidermolysis Bullosa Junctionalis With Pyloric Atresia; Epidermolysis bullosa with pyloric atresia; Epidermolysis Bullosa, Junctional, With Pyloric Atresia; Epidermylosis Bullosa, Junctional, With Pyloric Atresia And Aplasia Cutis Congenita; Junctional Epidermolysis Bullosa With Pyloric Atresia; Pa-Jeb
 
OMIM®: 226730

Definition

An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpidermolysis Bullosa, Junctional, with Pyloric Atresia
Follow this link to review classifications for Epidermolysis Bullosa, Junctional, with Pyloric Atresia in Orphanet.

Professional guidelines

PubMed

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
Nakamura H, Natsuga K, Nishie W, McMillan JR, Nakamura H, Sawamura D, Akiyama M, Shimizu H
Int J Dermatol 2011 Apr;50(4):439-42. doi: 10.1111/j.1365-4632.2010.04771.x. PMID: 21413955
Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia.
D'Alessio M, Zambruno G, Charlesworth A, Lacour JP, Meneguzzi G
J Invest Dermatol 2008 Dec;128(12):2815-9. Epub 2008 Jun 19 doi: 10.1038/jid.2008.143. PMID: 18563182
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J
Pediatr Res 2001 May;49(5):618-26. doi: 10.1203/00006450-200105000-00003. PMID: 11328943

Recent clinical studies

Etiology

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA
Turk J Pediatr 2015 Jul-Aug;57(4):385-387. PMID: 27186702
Age and etiology of childhood epidermolysis bullosa mortality.
Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC, Leung AK
J Dermatolog Treat 2015 Apr;26(2):178-82. Epub 2014 May 15 doi: 10.3109/09546634.2014.915002. PMID: 24724596
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J
Pediatr Res 2001 May;49(5):618-26. doi: 10.1203/00006450-200105000-00003. PMID: 11328943
Deficiency of the integrin beta 4 subunit in junctional epidermolysis bullosa with pyloric atresia: consequences for hemidesmosome formation and adhesion properties.
Niessen CM, van der Raaij-Helmer MH, Hulsman EH, van der Neut R, Jonkman MF, Sonnenberg A
J Cell Sci 1996 Jul;109 ( Pt 7):1695-706. doi: 10.1242/jcs.109.7.1695. PMID: 8832392
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.
Turco AE, Peissel B, Rossetti S, Selicorni A, Manoukian S, Brusasco A, Tadini G, Galimberti A, Tassis B, Turolla L
Am J Med Genet 1993 Dec 1;47(8):1225-30. doi: 10.1002/ajmg.1320470820. PMID: 8291561

Diagnosis

Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease.
Wee LWY, Tan EC, Bishnoi P, Ng YZ, Lunny DP, Lim HW, Lee SP, Ong C, Yap TL, Mok YH, Low MY, Chu-Tian Chow C, Derrick L, Common JEA, Birgitte Lane E, Koh MJA
Pediatr Dermatol 2021 Jul;38(4):908-912. Epub 2021 Jun 21 doi: 10.1111/pde.14668. PMID: 34152038
Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia.
Verma KP, Robertson SJ, Winship IM
Clin Exp Dermatol 2020 Aug;45(6):793-795. Epub 2020 May 2 doi: 10.1111/ced.14223. PMID: 32359087
Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.
Walker GD, Woody M, Orrin E, Mellerio JE, Levy ML
Pediatr Dermatol 2017 Jan;34(1):e61-e64. Epub 2016 Nov 4 doi: 10.1111/pde.13026. PMID: 27813154
Age and etiology of childhood epidermolysis bullosa mortality.
Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC, Leung AK
J Dermatolog Treat 2015 Apr;26(2):178-82. Epub 2014 May 15 doi: 10.3109/09546634.2014.915002. PMID: 24724596
Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation.
Merrow AC, Frischer JS, Lucky AW
Pediatr Radiol 2013 Dec;43(12):1656-61. Epub 2013 Jul 7 doi: 10.1007/s00247-013-2737-7. PMID: 23832020

Therapy

First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation.
Ozge A, Safak H, Ebru H, Evrim U, Bilge SE, Leyla O, Kemal KA, Volkan B
J Assist Reprod Genet 2012 Apr;29(4):347-52. Epub 2012 Feb 22 doi: 10.1007/s10815-012-9728-8. PMID: 22354727Free PMC Article

Prognosis

Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings.
Márquez K, Rodríguez DA, Pérez LA, Duarte M, Zárate LA
Biomedica 2021 Jun 29;41(2):201-207. doi: 10.7705/biomedica.5401. PMID: 34214260Free PMC Article
Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).
Mutlu M, Kalay E, Dilber B, Aslan Y, Dilber E, Almaani N, McGrath JA
Turk J Pediatr 2015 Jul-Aug;57(4):385-387. PMID: 27186702
Age and etiology of childhood epidermolysis bullosa mortality.
Hon KL, Li JJ, Cheng BL, Luk DC, Murrell DF, Choi PC, Leung AK
J Dermatolog Treat 2015 Apr;26(2):178-82. Epub 2014 May 15 doi: 10.3109/09546634.2014.915002. PMID: 24724596
Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature.
Bıçakcı U, Tander B, Cakmak Çelik F, Arıtürk E, Rızalar R
Ulus Travma Acil Cerrahi Derg 2012 May;18(3):271-3. doi: 10.5505/tjtes.2012.13284. PMID: 22864723
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF
Acta Derm Venereol 2008;88(5):438-48. doi: 10.2340/00015555-0484. PMID: 18779879

Clinical prediction guides

Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report.
Paine SK, Das S, Bhattacharyya C, Biswas NK, Rao R, De A, Basu A
Mol Genet Genomics 2022 Nov;297(6):1581-1586. Epub 2022 Aug 23 doi: 10.1007/s00438-022-01941-y. PMID: 35997841
Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
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
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene.
Stoevesandt J, Borozdin W, Girschick G, Hamm H, Höcht B, Kohlhase J, Volz A, Wiewrodt B, Wirbelauer J
Klin Padiatr 2012 Jan;224(1):8-11. Epub 2011 Sep 26 doi: 10.1055/s-0031-1285877. PMID: 21969027
Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature.
Dang N, Klingberg S, Rubin AI, Edwards M, Borelli S, Relic J, Marr P, Tran K, Turner A, Smith N, Murrell DF
Acta Derm Venereol 2008;88(5):438-48. doi: 10.2340/00015555-0484. PMID: 18779879
Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky AW, Garzon M, Stevens CA, Robertson S, Pfendner E, Uitto J
Pediatr Res 2001 May;49(5):618-26. doi: 10.1203/00006450-200105000-00003. PMID: 11328943

Recent systematic reviews

Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment.
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

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