epidermolysis bullosa

Summary

Summary: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.

Top Publications

  1. Sahebpor A, Ghafari V, Shokohi L. Pyloric atresia associated with epidermolysis bullosa. Indian Pediatr. 2008;45:849-51 pubmed
    We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to 2005. Patients underwent laparatomy after stabilization...
  2. Nakano A, Pulkkinen L, Murrell D, Rico J, Lucky A, Garzon M, et al. Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations. Pediatr Res. 2001;49:618-26 pubmed
    b>Epidermolysis bullosa with pyloric atresia (EB-PA: OMIM 226730), also known as Carmi syndrome, is a rare autosomal recessive genodermatosis that manifests with neonatal mucocutaneous fragility associated with congenital pyloric atresia...
  3. Has C, Spartà G, Kiritsi D, Weibel L, Moeller A, Vega Warner V, et al. Integrin ?3 mutations with kidney, lung, and skin disease. N Engl J Med. 2012;366:1508-14 pubmed publisher
    ..had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course ..
  4. Petronius D, Bergman R, Ben Izhak O, Leiba R, Sprecher E. A comparative study of immunohistochemistry and electron microscopy used in the diagnosis of epidermolysis bullosa. Am J Dermatopathol. 2003;25:198-203 pubmed
    Electron microscopic examination still is the gold standard for classifying epidermolysis bullosa, although it is relatively expensive, time consuming, and not readily available...
  5. Wu J. Deep sedation with intravenous infusion of combined propofol and ketamine during dressing changes and whirlpool bath in patients with severe epidermolysis bullosa. Paediatr Anaesth. 2007;17:592-6 pubmed
    ..or propofol plus ketamine for deep sedation and analgesia was carried out in two patients with severe epidermolysis bullosa (EB) during extensive dressing changes and deep whirlpool baths...
  6. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181-92 pubmed
    The dystrophic forms of epidermolysis bullosa (DEB), a group of heritable blistering disorders, show considerable phenotypic variability, and both autosomal dominant and autosomal recessive inheritance can be recognised...
  7. Almaani N, Liu L, Harrison N, Tanaka A, Lai Cheong J, Mellerio J, et al. New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol. 2009;89:6-11 pubmed publisher
    b>Epidermolysis bullosa (EB) pruriginosa is an unusual variant of dystrophic EB in which intense itching can lead to striking skin changes resembling acquired skin disorders such as nodular prurigo or hypertrophic lichen planus...
  8. Feijoo J, Bugallo J, Limeres J, Peñarrocha D, Penarrocha M, Diz P. Inherited epidermolysis bullosa: an update and suggested dental care considerations. J Am Dent Assoc. 2011;142:1017-25 pubmed
    b>Epidermolysis bullosa (EB) is a skin disease characterized by epithelial fragility that leads to blistering and erosion of the skin and mucosae...
  9. Bauer J, Lanschuetzer C. Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy. Clin Exp Dermatol. 2003;28:53-60 pubmed
    Non-Herlitz junctional epidermolysis bullosa (nH-JEB) is caused predominantly by mutations leading to premature stop codons on both alleles of the type XVII collagen gene (COL17A1)...

More Information

Publications62

  1. McLean W, Irvine A, Hamill K, Whittock N, Coleman Campbell C, Mellerio J, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003;12:2395-409 pubmed
    ..in which loss-of-expression mutations cause the lethal skin blistering disorder Herlitz junctional epidermolysis bullosa. Detailed investigation showed that this gene possesses a further 38 exons (76 exons in total) spanning ..
  2. He Y, Esser P, Heinemann A, Bruckner Tuderman L, Has C. Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification. Am J Pathol. 2011;178:975-82 pubmed publisher
    ..This first example of environmental regulation of kindlin expression has implications for phenotype modulation in Kindler syndrome, a skin disorder caused by kindlin-1 deficiency. ..
  3. Goldschneider K, Lucky A, Mellerio J, Palisson F, del Carmen Viñuela Miranda M, Azizkhan R. Perioperative care of patients with epidermolysis bullosa: proceedings of the 5th international symposium on epidermolysis bullosa, Santiago Chile, December 4-6, 2008. Paediatr Anaesth. 2010;20:797-804 pubmed publisher
    b>Epidermolysis bullosa (EB) has become recognized as a multisystem disorder that poses a number of pre-, intra-, and postoperative challenges...
  4. Fu C, Giudice G, Van den Bergh F. Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2006;126:232-4 pubmed
  5. Mortell A, Azizkhan R. Epidermolysis bullosa: management of esophageal strictures and enteric access by gastrostomy. Dermatol Clin. 2010;28:311-8, x pubmed publisher
    b>Epidermolysis bullosa (EB) is a spectrum of rare, inherited, blistering skin disorders, primarily affecting the skin and pharyngoesophageal mucosa. EB affects approximately 2 to 4 per 100,000 children each year...
  6. Bolling M, Veenstra M, Jonkman M, Diercks G, Curry C, Fisher J, et al. Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart. Br J Dermatol. 2010;162:1388-94 pubmed publisher
    ..One of these phenotypes, lethal acantholytic epidermolysis bullosa (LAEB), is characterized by extensive postnatal shedding of epidermis leading to early demise and is ..
  7. Fine J, Johnson L, Weiner M, Li K, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009;60:203-11 pubmed publisher
    ..that potentially lethal cutaneous squamous cell carcinomas arise in patients with recessive dystrophic epidermolysis bullosa (RDEB), although the magnitude of this risk is undefined...
  8. Lanschuetzer C, Laimer M, Nischler E, Hintner H. Epidermolysis bullosa nevi. Dermatol Clin. 2010;28:179-83 pubmed publisher
    b>Epidermolysis bullosa (EB) nevi are large, eruptive, asymmetrical, often irregularly pigmented melanocytic lesions...
  9. Figueira E, Murrell D, Coroneo M. Ophthalmic involvement in inherited epidermolysis bullosa. Dermatol Clin. 2010;28:143-52 pubmed publisher
    Eye involvement in inherited epidermolysis bullosa (EB) can occur as a spectrum of symptoms and signs. This article describes these signs and symptoms. It also offers options for treatment.
  10. Uitto J, Richard G. Progress in epidermolysis bullosa: from eponyms to molecular genetic classification. Clin Dermatol. 2005;23:33-40 pubmed
    b>Epidermolysis bullosa, a clinically and genetically diverse group of heritable mechanobullous disorders characterized by skin fragility in the cutaneous basement membrane zone, has become a prototype for the recent progress in molecular ..
  11. Fine J. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12 pubmed publisher
    Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues...
  12. Fujita Y, Abe R, Inokuma D, Sasaki M, Hoshina D, Natsuga K, et al. Bone marrow transplantation restores epidermal basement membrane protein expression and rescues epidermolysis bullosa model mice. Proc Natl Acad Sci U S A. 2010;107:14345-50 pubmed publisher
    ..This study aims to clarify whether bone marrow transplantation (BMT) treatment can rescue epidermolysis bullosa (EB) caused by defects in keratinocyte structural proteins...
  13. Meng X, Klement J, Leperi D, Birk D, Sasaki T, Timpl R, et al. Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol. 2003;121:720-31 pubmed
    Junctional forms of epidermolysis bullosa (JEB) are associated with mutations in six distinct genes expressed in the cutaneous basement membrane zone; these include LAMA3, LAMB3, and LAMC2, which encode laminin 5 subunit polypeptides, ..
  14. Krämer S, Serrano M, Zillmann G, Gálvez P, Araya I, Yanine N, et al. Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines. Int J Paediatr Dent. 2012;22 Suppl 1:1-35 pubmed publisher
    ..A systematic literature search, in which the main topic is dental care in patients with Epidermolysis Bullosa, was performed...
  15. Pohla Gubo G, Cepeda Valdes R, Hintner H. Immunofluorescence mapping for the diagnosis of epidermolysis bullosa. Dermatol Clin. 2010;28:201-10, vii pubmed publisher
    ..It has widely replaced transmission electron microscopy and is used as the initial laboratory test to prove the clinical diagnosis of epidermolysis bullosa.
  16. Hernandez Martin A, Torrelo A. [Inherited epidermolysis bullosa: from diagnosis to reality]. Actas Dermosifiliogr. 2010;101:495-505 pubmed
    Inherited epidermolysis bullosa (EB) refers to a group of diseases that is well-known to dermatologists. The diagnosis of an EB disease, which is usually straightforward, is devastating for affected families...
  17. Castiglia D, Posteraro P, Spirito F, Pinola M, Angelo C, Puddu P, et al. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. J Invest Dermatol. 2001;117:731-9 pubmed
    ..Mutations in the three genes (LAMA3, LAMB3, LAMC2) encoding the laminin-5 chains cause junctional epidermolysis bullosa, a clinically and genetically heterogeneous blistering skin disease...
  18. Fine J, Johnson L, Weiner M, Stein A, Cash S, DeLeoz J, et al. Inherited epidermolysis bullosa and the risk of death from renal disease: experience of the National Epidermolysis Bullosa Registry. Am J Kidney Dis. 2004;44:651-60 pubmed
    ..reports and limited clinical series suggested that renal failure may occur in some patients with inherited epidermolysis bullosa (EB)...
  19. Jonkman M, Pasmooij A, Pasmans S, van den Berg M, Ter Horst H, Timmer A, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet. 2005;77:653-60 pubmed
    ..The new dramatic phenotype, which we named "lethal acantholytic epidermolysis bullosa," underscores the paramount role of DP in epidermal integrity.
  20. Fine J, Johnson L, Weiner M, Suchindran C. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa. Clin Exp Dermatol. 2004;29:122-7 pubmed
    ..pain in 140 randomly chosen children, who were representative of all major types and subtypes of inherited epidermolysis bullosa (EB). Pain status in these children was compared with 374 randomly selected adults with EB...
  21. Fine J, Johnson L, Weiner M, Suchindran C. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope. 2007;117:1652-60 pubmed
    ..the frequency with which complications arise in the ears, noses, and throats of patients with inherited epidermolysis bullosa (EB) as well as the cumulative risk of tracheolaryngeal stenosis or stricture...
  22. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005;124:111-5 pubmed
    b>Epidermolysis bullosa with pyloric atresia (EB-PA), manifesting with neonatal blistering and gastric anomalies, is known to be caused by mutations in the hemidesmosomal genes ITGA6 and ITGB4, which encode the alpha6 and beta4 integrin ..
  23. Haynes L. Nutrition for children with epidermolysis bullosa. Dermatol Clin. 2010;28:289-301, x pubmed publisher
    ..and provision of the best possible overall quality of life are important management goals in children with epidermolysis bullosa. However, all these goals rely on the maintenance of optimal nutritional status, and achieving this is ..
  24. Sebaratnam D, Frew J, Davatchi F, Murrell D. Quality-of-life measurement in blistering diseases. Dermatol Clin. 2012;30:301-7, ix pubmed publisher
    ..Formal evaluation of QOL in the setting of bullous dermatoses facilitates the assessment of disease severity and mapping of disease trajectory and can capture outcomes of therapeutic intervention relevant to the patient. ..
  25. Lai Cheong J, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol. 2009;160:233-42 pubmed publisher
    ..Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities...
  26. Venugopal S, Murrell D. Treatment of skin cancers in epidermolysis bullosa. Dermatol Clin. 2010;28:283-7, ix-x pubmed publisher
    Squamous cell carcinomas (SCCs) are highly aggressive in patients with epidermolysis bullosa (EB)...
  27. Lanschuetzer C, Emberger M, Laimer M, Diem A, Bauer J, Soyer H, et al. Epidermolysis bullosa naevi reveal a distinctive dermoscopic pattern. Br J Dermatol. 2005;153:97-102 pubmed
    Large, asymmetrical and irregularly pigmented naevi in patients with epidermolysis bullosa (EB) have been reported often to mimic cutaneous melanoma clinically...
  28. Tosti A, de Farias D, Murrell D. Nail involvement in epidermolysis bullosa. Dermatol Clin. 2010;28:153-7 pubmed publisher
    Nail abnormalities are a common feature in most subtypes of epidermolysis bullosa (EB), and they recently have been included among the criteria for scoring EB severity...
  29. Pagliarello C, Tabolli S. Factors affecting quality of life in epidermolysis bullosa. Expert Rev Pharmacoecon Outcomes Res. 2010;10:329-38 pubmed publisher
    b>Epidermolysis bullosa is a rare group of inherited disorders that manifests as blistering or erosion of the skin in response to little or no apparent trauma. Patients suffer from long-term physical, social and economic consequences...
  30. Fine J, Mellerio J. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009;61:367-84; quiz 385-6 pubmed publisher
    ..reports and small case series, it has been known for many years that some types and subtypes of inherited epidermolysis bullosa (EB) may be at risk for developing one or more extracutaneous complications...
  31. Koster J, Kuikman I, Kreft M, Sonnenberg A. Two different mutations in the cytoplasmic domain of the integrin beta 4 subunit in nonlethal forms of epidermolysis bullosa prevent interaction of beta 4 with plectin. J Invest Dermatol. 2001;117:1405-11 pubmed
    ..Two missense mutations (R1225H and R1281W) in beta 4 that are responsible for nonlethal forms of epidermolysis bullosa are located in the second FNIII repeat...
  32. Murat Susić S, Husar K, Skerlev M, Marinovic B, Babić I. Inherited epidermolysis bullosa - the spectrum of complications. Acta Dermatovenerol Croat. 2011;19:255-63 pubmed
    b>Epidermolysis bullosa is a group of inherited diseases that are characterized by skin and mucosal fragility and blister formation...
  33. Iohom G, Lyons B. Anaesthesia for children with epidermolysis bullosa: a review of 20 years' experience. Eur J Anaesthesiol. 2001;18:745-54 pubmed
    b>Epidermolysis bullosa is a rare, genetically determined disorder characterized by excessive susceptibility of the skin and mucosa to separate from the underlying tissues after mechanical trauma...
  34. Tolar J, Blazar B, Wagner J. Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa. Stem Cells. 2011;29:900-6 pubmed publisher
    ..compromised in people with congenital absence of structural proteins of the skin, such as in dystrophic epidermolysis bullosa, a severe congenital mechanobullous disorder caused by mutations in collagen type VII...
  35. Fine J, Johnson L, Weiner M, Stein A, Cash S, DeLeoz J, et al. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. Am J Ophthalmol. 2004;138:254-62 pubmed
    To determine the frequency of ocular manifestations in inherited epidermolysis bullosa (EB) within the continental United States and to define the estimated cumulative risks of developing nonscarring (blisters or erosions) and scarring ..
  36. Pope E, Lara Corrales I, Mellerio J, Martinez A, Schultz G, Burrell R, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67:904-17 pubmed publisher
    Wound care is the cornerstone of treatment for patients with epidermolysis bullosa (EB); however, there are currently no guidelines to help practitioners care for these patients...
  37. Postma G, Belafsky P, Koufman J. Dilation of an esophageal stricture caused by epidermolysis bullosa. Ear Nose Throat J. 2002;81:86 pubmed
  38. Fine J, Johnson L, Weiner M, Stein A, Cash S, DeLeoz J, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature. J Urol. 2004;172:2040-4 pubmed
    ..hydronephrosis secondary to ureteral strictures, pyelonephritis and cystitis) occur in inherited epidermolysis bullosa (EB) in the American EB population...
  39. Schumann H, Kiritsi D, Pigors M, Hausser I, Kohlhase J, Peters J, et al. Phenotypic spectrum of epidermolysis bullosa associated with ?6?4 integrin mutations. Br J Dermatol. 2013;169:115-24 pubmed publisher
    ..adhesion and are associated with skin blistering and pyloric atresia (PA), a disorder known as epidermolysis bullosa with PA (EB-PA)...
  40. Fine J, Johnson L, Weiner M, Stein A, Cash S, Deleoz J, et al. Pseudosyndactyly and musculoskeletal contractures in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry, 1986-2002. J Hand Surg Br. 2005;30:14-22 pubmed
    ..occur in nearly every patient with the most severe subtype (Hallopeau-Siemens) of recessive dystrophic epidermolysis bullosa, and in at least 40-50% of all other recessive dystrophic epidermolysis bullosa patients...
  41. Sawamura D, Goto M, Sakai K, Nakamura H, McMillan J, Akiyama M, et al. Possible involvement of exon 31 alternative splicing in phenotype and severity of epidermolysis bullosa caused by mutations in PLEC1. J Invest Dermatol. 2007;127:1537-40 pubmed
  42. Fine J, Johnson L, Weiner M, Suchindran C. Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry. J Pediatr Gastroenterol Nutr. 2008;46:147-58 pubmed publisher
    Portions of the gastrointestinal (GI) tract may be severely involved in patients with inherited epidermolysis bullosa (EB). Evidence-based data are lacking as to the frequency and time of onset of these complications...
  43. Wright J. Oral manifestations in the epidermolysis bullosa spectrum. Dermatol Clin. 2010;28:159-64 pubmed publisher
    The craniofacial and oral manifestations of the different epidermolysis bullosa (EB) types vary markedly in character and severity depending largely on the EB type...
  44. Fine J, Mellerio J. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol. 2009;61:387-402; quiz 403-4 pubmed publisher
    ..via case reports and limited case series, that nonepithelial tissues may become injured in patients with epidermolysis bullosa. Only recently, however, have there been data generated from large, well characterized cohorts...
  45. Yazdanfar A, Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol. 2009;48:145-9 pubmed publisher
    ..Also, patients should be questioned about any history of blister formation as well as family history. ..
  46. Has C, Castiglia D, Del Rio M, Diez M, Piccinni E, Kiritsi D, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011;32:1204-12 pubmed publisher
    ..Environmental factors and yet unidentified modifiers may play a role. Better understanding of the molecular pathogenesis of KS should enable the development of prevention strategies for disease complications. ..
  47. Intong L, Murrell D. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012;30:70-7 pubmed publisher
    b>Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders caused by mutations in various structural proteins in the skin...
  48. Ferrari S, Pellegrini G, Matsui T, Mavilio F, De Luca M. Towards a gene therapy clinical trial for epidermolysis bullosa. Rev Recent Clin Trials. 2006;1:155-62 pubmed
    ..firmly to the underneath derma lead to severe, often lethal, blistering disorders of the skin known as Epidermolysis Bullosa (EB)...
  49. Sawamura D, Nakano H, Matsuzaki Y. Overview of epidermolysis bullosa. J Dermatol. 2010;37:214-9 pubmed publisher
    b>Epidermolysis bullosa (EB) is classified into major types - EB simplex (EBS), junctional EB (JEB) and dystrophic EB (DEB) - on the basis of the level of tissue separation within the cutaneous basement membrane zone...
  50. Fine J, Eady R, BAUER E, Bauer J, Bruckner Tuderman L, Heagerty A, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931-50 pubmed publisher
    Since publication in 2000 of the Second International Consensus Report on Diagnosis and Classification of Epidermolysis Bullosa, many advances have been made to our understanding of this group of diseases, both clinically and molecularly...
  51. Sproule T, Roopenian D, Sundberg J. A direct method to determine the strength of the dermal-epidermal junction in a mouse model for epidermolysis bullosa. Exp Dermatol. 2012;21:453-5 pubmed publisher
    b>Epidermolysis bullosa (EB) describes a spectrum of rare, incurable, inherited mechanobullous disorders unified by the fact that they are caused by structural defects in the basement membrane zone which disrupt adhesion between the ..
  52. Langan S, Williams H. A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa. Clin Exp Dermatol. 2009;34:20-5 pubmed publisher
    Many interventions have been described for inherited epidermolysis bullosa (EB), but it is unclear which are beneficial.
  53. Fine J, Hall M, Weiner M, Li K, Suchindran C. The risk of cardiomyopathy in inherited epidermolysis bullosa. Br J Dermatol. 2008;159:677-82 pubmed publisher
    Case reports have suggested that cardiomyopathy may be a complication of recessive dystrophic epidermolysis bullosa (RDEB). To determine the risk of congestive heart failure (CHF) or cardiomyopathy in each major EB subtype...