Epidermolysis bullosa dystrophica

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Epidermolysis bullosa dystrophica
Other namesDystrophic EB
The legs of an individual with dystrophic epidermolysis bullosa.
SpecialtyMedical genetics Edit this on Wikidata

Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs.[1][2]

"Butterfly child" is the colloquial name for a child born with the disease, as their skin is seen to be as delicate and fragile as the wings of a butterfly.[3]

Signs and symptoms[edit]

The deficiency in anchoring fibrils impairs the adherence between the epidermis and the underlying dermis. The skin of DEB patients is thus highly susceptible to severe blistering.[citation needed] Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may have chronic scarring, webbing, and obstruction of the esophagus. Affected individuals are often severely malnourished due to trauma to the oral and esophageal mucosa and require feeding tubes for nutrition. They also have iron-deficiency anemia of uncertain origin, which leads to chronic fatigue.[citation needed]

Open wounds on the skin heal slowly or not at all, often scarring extensively, and are particularly susceptible to infection. Many individuals bathe in a bleach and water mixture to fight off these infections.[citation needed] The chronic inflammation leads to errors in the DNA of the affected skin cells, which in turn causes squamous cell carcinoma (SCC). The majority of these patients die before the age of 30, either of SCC or complications related to DEB.[citation needed]

The chronic inflammatory state seen in recessive dystrophic epidermolysis bullosa (RDEB) may cause small fiber peripheral neuropathy (SFN);[4] RDEB patients have reported the sensation of pain in line with neuropathic pain qualities.[5]


DEB is caused by genetic defects (or mutations) within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).[6] DEB-causing mutations can be either dominant or recessive.[citation needed] Most families with family members with this condition have distinct mutations.[7]

Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis.[citation needed]


In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form of epidermolysis bullosa called epidermolysis bullosa acquisita.[8]

There exist other types of inherited epidermolysis bullosa, junctional epidermolysis bullosa and epidermolysis bullosa simplex, which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the epidermis or the basement membrane at the junction between the epidermis and the dermis.[9]



Name Locus & Gene OMIM
Dominant dystrophic epidermolysis bullosa (DDEB)
Also known as "Cockayne-Touraine disease", this variant is characterized by vesicles and bullae on the extensor surfaces of the extremities.[10][11]
3p21.3 (COL7A1) 131750
Recessive dystrophic epidermolysis bullosa (RDEB)
Also known as "Hallopeau–Siemens variant of epidermolysis bullosa"[12] and "Hallopeau–Siemens disease",[13] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia.[14][11] It is named for François Henri Hallopeau and Hermann Werner Siemens.
3q22-q23 (COL7A1), 3p21.3 (MMP1) 226600
Epidermolysis bullosa dystrophica, pretibial 3p21.3 (COL7A1) 131850
Epidermolysis bullosa pruriginosa 3p21.3 (COL7A1) 604129
Epidermolysis bullosa with congenital localized absence of skin and deformity of nails 3p21.3 (COL7A1) 132000
Transient bullous dermolysis of the newborn (TBDN) 3p21.3 (COL7A1) 131705


In May 2023, the FDA approved Vyjuvek for the treatment of wounds in people with dystrophic epidermolysis bullosa with mutation(s) in the collagen type VII alpha 1 chain (COL7A1) gene.[15][16]

See also[edit]


  1. ^ Reference, Genetics Home. "dystrophic epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-04-03.
  2. ^ Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
  3. ^ Pittman, Taylor (2015-04-21). "'Butterfly Child' With Rare, Painful Condition Displays Strength That Will Blow You Away". Huffington Post. Retrieved 2017-07-14.
  4. ^ [1], Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.
  5. ^ Schräder NHB, Yuen WY, Jonkman MF (2018). "Pain Quality Assessment Scale for Epidermolysis Bullosa". Acta Derm Venereol. 98 (3): 346–349. doi:10.2340/00015555-2827. PMID 29057428.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. ^ Varki, R.; Sadowski, S.; Uitto, J.; Pfendner, E. (March 2007). "Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes". Journal of Medical Genetics. 44 (3): 181–92. doi:10.1136/jmg.2006.045302. PMC 2598021. PMID 16971478.
  7. ^ Csikós, M.; Szőcs, H. I.; Lászik, A.; Mecklenbeck, S.; Horváth, A.; Kárpáti, S.; Bruckner-Tuderman, L. (May 2005). "High frequency of the 425A→G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa". British Journal of Dermatology. 152 (5): 879–886. doi:10.1111/j.1365-2133.2005.06542.x. PMID 15888141. S2CID 44394902.
  8. ^ Mihai, Sidonia; Sitaru, Cassian (May–June 2007). "Immunopathology and molecular diagnosis of autoimmune bullous diseases". Journal of Cellular and Molecular Medicine. 11 (3): 462–481. doi:10.1111/j.1582-4934.2007.00033.x. PMC 3922353. PMID 17521373.
  9. ^ Fine, Jo-David; Eady, Robin A. J.; Bauer, Eugene A.; Bauer, Johann W.; Bruckner-Tuderman, Leena; Heagerty, Adrian; Hintner, Helmut; Hovnanian, Alain; Jonkman, Marcel F.; Leigh, Irene; McGrath, John A.; Mellerio, Jemima E.; Murrell, Dedee F.; Shimizu, Hiroshi; Uitto, Jouni; Vahlquist, Anders; Woodley, David; Zambruno, Giovanna (2008). "The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB". Journal of the American Academy of Dermatology. 58 (6): 931–950. doi:10.1016/j.jaad.2008.02.004. PMID 18374450.
  10. ^ James, Berger & Elston 2005, p. 558
  11. ^ a b Freedberg et al. 2003, p. 601
  12. ^ Freedberg et al. 2003
  13. ^ Rapini, Bolognia & Jorizzo 2007, p. 458
  14. ^ James, Berger & Elston 2005, pp. 558–9
  15. ^ Commissioner, Office of the (2023-05-19). "FDA Approves First Topical Gene Therapy for Treatment of Wounds in Patients with Dystrophic Epidermolysis Bullosa". FDA. Retrieved 2023-06-01.
  16. ^ Research, Center for Biologics Evaluation and (2023-05-19). "VYJUVEK". FDA.


  • Freedberg, Irwin M.; Eisen, Arthur Z.; Wolff, Klauss; Austen, K. Frank; Goldsmith, Lowell A.; Katz, Stephen I., eds. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. ISBN 978-0-07-138076-8.
  • James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 978-0-7216-2921-6.
  • Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

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