junctional epidermolysis bullosa

Summary

Summary: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.

Top Publications

  1. Mühle C, Jiang Q, Charlesworth A, Bruckner Tuderman L, Meneguzzi G, Schneider H. Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease. Hum Genet. 2005;116:33-42 pubmed
    Herlitz disease (H-JEB), the lethal form of junctional epidermolysis bullosa, is a rare genodermatosis presenting from birth with widespread erosions and blistering of skin and mucosae because of tissue cleavage within the epidermal ..
  2. Vidal F, Aberdam D, Miquel C, Christiano A, Pulkkinen L, Uitto J, et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet. 1995;10:229-34 pubmed
    Pyloric atresia associated with junctional epidermolysis bullosa (PA-JEB), is a rare inherited disorder characterized by pyloric stenosis and blistering of the skin as primary manifestations...
  3. Pulkkinen L, Christiano A, Gerecke D, Wagman D, Burgeson R, Pittelkow M, et al. A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics. 1994;24:357-60 pubmed
    Herlitz junctional epidermolysis bullosa (H-JEB) is a severe autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane...
  4. Pulkkinen L, Meneguzzi G, McGrath J, Xu Y, Blanchet Bardon C, Ortonne J, et al. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol. 1997;109:232-7 pubmed
    ..This recurrent mutation will facilitate screening of additional JEB patients for the purpose of prenatal testing of fetuses at risk for recurrence. ..
  5. Hata D, Miyazaki M, Seto S, Kadota E, Muso E, Takasu K, et al. Nephrotic syndrome and aberrant expression of laminin isoforms in glomerular basement membranes for an infant with Herlitz junctional epidermolysis bullosa. Pediatrics. 2005;116:e601-7 pubmed
    Herlitz junctional epidermolysis bullosa (H-JEB) is a hereditary bullous disease caused by absent expression of laminin-5, a component of anchoring filaments within the dermal-epidermal basement membrane zone...
  6. Robbins P, Lin Q, Goodnough J, Tian H, Chen X, Khavari P. In vivo restoration of laminin 5 beta 3 expression and function in junctional epidermolysis bullosa. Proc Natl Acad Sci U S A. 2001;98:5193-8 pubmed
    The blistering disorder, lethal junctional epidermolysis bullosa (JEB), can result from mutations in the LAMB3 gene, which encodes laminin 5 beta3 (beta3)...
  7. Posteraro P, Sorvillo S, Gagnoux Palacios L, Angelo C, Paradisi M, Meneguzzi G, et al. Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. Biochem Biophys Res Commun. 1998;243:758-64 pubmed
    ..Mutations in the genes encoding laminin-5 cause junctional epidermolysis bullosa (JEB), a clinically and genetically heterogeneous group of recessively inherited blistering disease ..
  8. Murrell D, Pasmooij A, Pas H, Marr P, Klingberg S, Pfendner E, et al. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol. 2007;127:1772-5 pubmed
  9. Pulkkinen L, Cserhalmi Friedman P, Tang M, Ryan M, Uitto J, Christiano A. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Lab Invest. 1998;78:1067-76 pubmed
    ..of the cutaneous basement membrane zone protein laminin 5 have been reported in different forms of junctional epidermolysis bullosa (JEB), an inherited blistering skin disease...

More Information

Publications62

  1. Bubier J, Sproule T, Alley L, Webb C, Fine J, Roopenian D, et al. A mouse model of generalized non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2010;130:1819-28 pubmed publisher
    ..This model faithfully recapitulates human JEB and provides an important preclinical tool to test therapeutic approaches. ..
  2. Baudoin C, Miquel C, Blanchet Bardon C, Gambini C, Meneguzzi G, Ortonne J. Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression. J Clin Invest. 1994;93:862-9 pubmed
    Previous studies have correlated the Herlitz junctional epidermolysis bullosa (H-JEB) to an altered expression of the basement membrane component nicein/kalinin...
  3. Pulkkinen L, Christiano A, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet. 1994;6:293-7 pubmed
    b>Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane...
  4. McGrath J, Gatalica B, Li K, Dunnill M, McMillan J, Christiano A, et al. Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol. 1996;148:1787-96 pubmed
    b>Junctional epidermolysis bullosa is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction...
  5. Takizawa Y, Pulkkinen L, Chao S, Nakajima H, Nakano Y, Shimizu H, et al. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2000;115:307-11 pubmed
    ..Here we report a patient of Japanese origin with Herlitz junctional epidermolysis bullosa (OMIM no. 226700), who died at the age of 8 mo from complications of the disease...
  6. Puvabanditsin S, Garrow E, Kim D, Tirakitsoontorn P, Luan J. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. J Am Acad Dermatol. 2001;44:330-5 pubmed
    ..These cases emphasize this unusual combination of defects and limitations of electron microscopy. ..
  7. Kuster J, Guarnieri M, Ault J, Flaherty L, Swiatek P. IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa. Mamm Genome. 1997;8:673-81 pubmed
    ..Mutations in the laminin-5-coding genes have been associated with Herlitz junctional epidermolysis bullosa (HJEB), a severe and often lethal blistering disease of humans...
  8. Ashton G, Sorelli P, Mellerio J, Keane F, Eady R, McGrath J. Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. Br J Dermatol. 2001;144:408-14 pubmed
    b>Junctional epidermolysis bullosa with pyloric atresia (JEB-PA) (MIM 226730) is an autosomal recessive disorder resulting from mutations in the genes encoding alpha 6 beta 4 integrin (ITGA6 and ITGB4)...
  9. Scaturro M, Posteraro P, Mastrogiacomo A, Zaccaria M, De Luca N, Mazzanti C, et al. A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa. Biochem Biophys Res Commun. 2003;309:96-103 pubmed
    ..Mutations in the genes encoding laminin-5 cause junctional epidermolysis bullosa (JEB), a recessive inherited disease characterized by extensive epithelial-mesenchymal disadhesion...
  10. Aberdam D, Galliano M, Vailly J, Pulkkinen L, Bonifas J, Christiano A, et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet. 1994;6:299-304 pubmed
    We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes...
  11. Pulkkinen L, Kurtz K, Xu Y, Bruckner Tuderman L, Uitto J. Genomic organization of the integrin beta 4 gene (ITGB4): a homozygous splice-site mutation in a patient with junctional epidermolysis bullosa associated with pyloric atresia. Lab Invest. 1997;76:823-33 pubmed
    ..of this integrin, which is alternatively spliced in various cell types, is deficient in a variant of junctional epidermolysis bullosa associated with pyloric atresia (JEB-PA)...
  12. Ortiz Urda S, Lin Q, Yant S, Keene D, Kay M, Khavari P. Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. Gene Ther. 2003;10:1099-104 pubmed
    ..of severe human genetic disorders of self-renewing tissues, such as the blistering skin disease junctional epidermolysis bullosa (JEB), is facilitated by stable genomic integration of therapeutic genes into somatic tissue stem ..
  13. Nakano A, Chao S, Pulkkinen L, Murrell D, Bruckner Tuderman L, Pfendner E, et al. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of Herlitz vs. non-Herlitz phenotypes. Hum Genet. 2002;110:41-51 pubmed
    b>Junctional epidermolysis bullosa (JEB) is a group of heritable blistering diseases in which tissue separation occurs within the lamina lucida of the cutaneous basement membrane zone...
  14. Kivirikko S, McGrath J, Baudoin C, Aberdam D, Ciatti S, Dunnill M, et al. A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet. 1995;4:959-62 pubmed
    The inherited mechanobullous disorder, junctional epidermolysis bullosa (JEB), is characterized by extensive blistering and erosions of the skin and mucous membranes...
  15. Kirkham J, Robinson C, Strafford S, Shore R, Bonass W, Brookes S, et al. The chemical composition of tooth enamel in junctional epidermolysis bullosa. Arch Oral Biol. 2000;45:377-86 pubmed
    ..It is concluded that EBJ enamel is developmentally compromised and that the enamel defects are commensurate with the reported genetic lesions. ..
  16. Floeth M, Bruckner Tuderman L. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet. 1999;65:1530-7 pubmed
    b>Junctional epidermolysis bullosa (JEB), a genetically heterogeneous group of blistering skin diseases, can be caused by mutations in the genes encoding laminin 5 or collagen XVII, which are components of the hemidesmosome-anchoring ..
  17. Gedde Dahl T, Dupuy B, Jonassen R, Winberg J, Anton Lamprecht I, Olaisen B. Junctional epidermolysis bullosa inversa (locus EBR2A) assigned to 1q31 by linkage and association to LAMC1. Hum Mol Genet. 1994;3:1387-91 pubmed
    b>Junctional epidermolysis bullosa inversa is an autosomal recessive blistering skin disease with an ultrastructural hemidesmosome defect similar to that of the Herlitz disease, yet with a non-lethal and different course of the disease...
  18. Murgia C, Blaikie P, Kim N, Dans M, Petrie H, Giancotti F. Cell cycle and adhesion defects in mice carrying a targeted deletion of the integrin beta4 cytoplasmic domain. EMBO J. 1998;17:3940-51 pubmed
    ..detachment at birth and die immmediately thereafter from a syndrome resembling the human disease junctional epidermolysis bullosa with pyloric atresia (PA-JEB). In addition, we find a significant proliferative defect...
  19. Pulkkinen L, Kimonis V, Xu Y, Spanou E, McLean W, Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997;6:669-74 pubmed
    b>Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin diseases...
  20. Takizawa Y, Pulkkinen L, Shimizu H, Lin L, Hagiwara S, Nishikawa T, et al. Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. J Invest Dermatol. 1998;110:828-31 pubmed
    Herlitz junctional epidermolysis bullosa (OMIM#226700) is a lethal, autosomal recessive blistering disorder caused by mutations in one of the three genes LAMA3, LAMB3, or LAMC2, encoding the constitutive polypeptide subunits of laminin 5...
  21. Ruzzi L, Gagnoux Palacios L, Pinola M, Belli S, Meneguzzi G, D Alessio M, et al. A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest. 1997;99:2826-31 pubmed
    ..These anchoring structures are ultrastructurally abnormal in patients affected with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a recessively inherited blistering disease of skin and mucosae ..
  22. Mellerio J, Pulkkinen L, McMillan J, Lake B, Horn H, Tidman M, et al. Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease. Br J Dermatol. 1998;139:862-71 pubmed
    b>Junctional epidermolysis bullosa associated with pyloric atresia (EB-PA; OMIM 226730) is a rare autosomal recessively inherited disease in which mucocutaneous fragility is associated with gastrointestinal atresia...
  23. Pasmooij A, Pas H, Jansen G, Lemmink H, Jonkman M. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol. 2007;156:861-70 pubmed
    Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB)...
  24. Sadler E, Laimer M, Diem A, Klausegger A, Pohla Gubo G, Muss W, et al. [Dental alterations in junctional epidermolysis bullosa--report of a patient with a mutation in the LAMB3-gene]. J Dtsch Dermatol Ges. 2005;3:359-63 pubmed
    ..Teeth of patients suffering from junctional epidermolysis bullosa (JEB) can be severely affected by abnormal dental development and generalized or focal enamel ..
  25. Kivirikko S, McGrath J, Pulkkinen L, Uitto J, Christiano A. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet. 1996;5:231-7 pubmed
    The Herlitz type of junctional epidermolysis bullosa (H-JEB) is a severe blistering disease affecting the skin and mucous membranes, and laminin 5 has been implicated as the candidate gene/protein system for most patients with H-JEB...
  26. McGrath J, Gatalica B, Christiano A, Li K, Owaribe K, McMillan J, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet. 1995;11:83-6 pubmed
    b>Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction...
  27. Baudoin C, Miquel C, Gagnoux Palacios L, Pulkkinen L, Christiano A, Uitto J, et al. A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet. 1994;3:1909-10 pubmed
  28. Graves K, Henney P, Ennis R. Partial deletion of the LAMA3 gene is responsible for hereditary junctional epidermolysis bullosa in the American Saddlebred Horse. Anim Genet. 2009;40:35-41 pubmed publisher
    ..A mutation in any of these genes results in the condition known as hereditary junctional epidermolysis bullosa (JEB)...
  29. Schumann H, Hammami Hauasli N, Pulkkinen L, Mauviel A, Kuster W, Lüthi U, et al. Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa. Am J Hum Genet. 1997;60:1344-53 pubmed
    b>Junctional epidermolysis bullosa (JEB) is a clinically and biologically heterogeneous genodermatosis, characterized by trauma-induced blistering and healing without scarring but sometimes with skin atrophy...
  30. Dowling J, Yu Q, Fuchs E. Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol. 1996;134:559-72 pubmed
    ..integrin function in cell-substratum adhesion, cell survival and differentiation, and for understanding the role of alpha 6 beta 4 in junctional epidermolysis bullosa, an often lethal human disorder with pathology similar to our mice.
  31. Vidal F, Baudoin C, Miquel C, Galliano M, Christiano A, Uitto J, et al. Cloning of the laminin alpha 3 chain gene (LAMA3) and identification of a homozygous deletion in a patient with Herlitz junctional epidermolysis bullosa. Genomics. 1995;30:273-80 pubmed
    ..Altered expression of laminin 5 has been associated with Herlitz junctional epidermolysis bullosa (H-JEB), a severe epidermal blistering disorder inherited as an autosomal recessive disease...
  32. Laimer M, Bauer J, Klausegger A, Koller J, Pohla Gubo G, Muss W, et al. Skin grafting as a therapeutic approach in pretibially restricted junctional epidermolysis bullosa. Br J Dermatol. 2006;154:185-7 pubmed
  33. Chavanas S, Gache Y, Vailly J, Kanitakis J, Pulkkinen L, Uitto J, et al. Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing. Hum Mol Genet. 1999;8:2097-105 pubmed
    ..The results also point to the relevance which the interaction between epithelial and stromal cells may have in modulating expression of integrin receptors. ..
  34. Figueira E, Crotty A, Challinor C, Coroneo M, Murrell D. Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. Clin Exp Ophthalmol. 2007;35:163-6 pubmed
    ..describe a unique case of granulation tissue in the eyelid margin and conjunctiva in a patient with junctional epidermolysis bullosa. The eyelid granulation tissue resembled granulomas that seen in laryngo-onycho-cutaneous syndrome, ..
  35. Mizrachi Koren M, Shemer S, Morgan M, Indelman M, Khamaysi Z, Petronius D, et al. Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations. J Am Acad Dermatol. 2006;55:393-401 pubmed
    ..The method was evaluated in a retrospective fashion in 4 families previously assessed with junctional epidermolysis bullosa and in a prospective manner in 11 families with congenital recessive ichthyosis...
  36. Sehgal B, DeBiase P, Matzno S, Chew T, Claiborne J, Hopkinson S, et al. Integrin beta4 regulates migratory behavior of keratinocytes by determining laminin-332 organization. J Biol Chem. 2006;281:35487-98 pubmed
  37. Hammersen J, Has C, Naumann Bartsch N, Stachel D, Kiritsi D, Soder S, et al. Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa. J Invest Dermatol. 2016;136:2150-2157 pubmed publisher
    Severe generalized junctional epidermolysis bullosa, a lethal hereditary blistering disorder, is usually treated by palliative care...
  38. Kroeger J, Hofmann S, Leppert J, Has C, Franzke C. Amino acid duplication in the coiled-coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa. Hum Mol Genet. 2017;26:479-488 pubmed publisher
    ..Mutations in the collagen XVII gene, COL17A1, cause junctional epidermolysis bullosa (JEB), characterized by chronic trauma-induced skin blistering...
  39. Basarab T, Dunnill M, Eady R, Russell Jones R. Herlitz junctional epidermolysis bullosa: a case report and review of current diagnostic methods. Pediatr Dermatol. 1997;14:307-11 pubmed
    We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities...
  40. Fassihi H, Ashton G, Denyer J, Mellerio J, Mason G, McGrath J. Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins. Clin Exp Dermatol. 2005;30:180-2 pubmed
    ..DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with ..
  41. Darling T, Yee C, Bauer J, Hintner H, Yancey K. Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation. J Clin Invest. 1999;103:1371-7 pubmed
    ..These studies elucidate the molecular basis of a novel form of revertant mosaicism in humans. ..
  42. Gorski J, Olsen B. Mutations in extracellular matrix molecules. Curr Opin Cell Biol. 1998;10:586-93 pubmed
    ..At the same time, recent data provide exciting insights into nonredundant, critical roles of transcription factors in regulating differentiation and function of matrix-producing cells. ..
  43. Cohn H, Murrell D. Laryngo-onycho-cutaneous syndrome. Dermatol Clin. 2010;28:89-92 pubmed publisher
    Laryngo-onycho-cutaneous (LOC) syndrome was reclassified as a subtype of junctional epidermolysis bullosa (JEB) based on clinical features similar to JEB and its association, in the majority of patients from the Punjab, with a unique ..
  44. Hengge U, Bardenheuer W. Gene therapy and the skin. Am J Med Genet C Semin Med Genet. 2004;131C:93-100 pubmed
    ..Among the first skin diseases, patients with junctional epidermolysis bullosa (JEB) and xeroderma pigmentosum (XP) will enter clinical trials.
  45. Wasel N, Idikio H, Lees G, Krol A, Lin A. Junctional epidermolysis bullosa with pyloric stenosis presenting with electron microscopic findings suggestive of epidermolysis bullosa simplex. Pediatr Dermatol. 2000;17:395-8 pubmed
  46. Zillikens D, Giudice G. BP180/type XVII collagen: its role in acquired and inherited disorders or the dermal-epidermal junction. Arch Dermatol Res. 1999;291:187-94 pubmed
    ..These findings have suggested new directions for the development of diagnostic and therapeutic tools for these autoimmune and genetic diseases. ..
  47. Pulkkinen L, Rouan F, Bruckner Tuderman L, Wallerstein R, Garzon M, Brown T, et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet. 1998;63:1376-87 pubmed
    ..These results confirm that ITGB4 mutations underlie EB-PA and show that missense mutations may lead to nonlethal phenotypes. ..
  48. McGrath J, Pulkkinen L, Christiano A, Leigh I, Eady R, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol. 1995;104:467-74 pubmed
    ..Thus the mutations delineated in this family may have a critical pathogenetic significance in reducing adhesion between the epidermis and the dermis. ..
  49. Zirn J, Scott R, Aronian J, Lin A. Gastric outlet obstruction and gastric infarct in junctional epidermolysis bullosa. Pediatr Dermatol. 1995;12:174-7 pubmed
    A newborn boy had junctional epidermolysis bullosa, duodenal obstruction, and gastric infarction, a newly described combination that extends the spectrum of gastrointestinal findings associated with junctional epidermolysis bullosa...
  50. Gache Y, Allegra M, Bodemer C, Pisani Spadafora A, De Prost Y, Ortonne J, et al. Genetic bases of severe junctional epidermolysis bullosa presenting spontaneous amelioration with aging. Hum Mol Genet. 2001;10:2453-61 pubmed
    Change of the clinical picture with aging is noted in some patients suffering from junctional epidermolysis bullosa (JEB), an inherited blistering disorder caused by extensive disadhesion of the epithelia...
  51. Kambham N, Tanji N, Seigle R, Markowitz G, Pulkkinen L, Uitto J, et al. Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa. Am J Kidney Dis. 2000;36:190-6 pubmed
    ..This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect. ..
  52. Ryan M, Lee K, Miyashita Y, Carter W. Targeted disruption of the LAMA3 gene in mice reveals abnormalities in survival and late stage differentiation of epithelial cells. J Cell Biol. 1999;145:1309-23 pubmed
    ..These results indicate that laminin 5 has an important role in regulating tissue organization, gene expression, and survival of epithelium. ..
  53. Epstein E. The genetics of human skin diseases. Curr Opin Genet Dev. 1996;6:295-300 pubmed
    ..keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.