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

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.[

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]

Causes

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
]

Pathophysiology

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

epidermis or the basement membrane at the junction between the epidermis and the dermis.[9]

Diagnosis

Classification

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 (
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

Treatment

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

References

  1. ^ Reference, Genetics Home. "dystrophic epidermolysis bullosa". Genetics Home Reference. Retrieved 2017-04-03.
  2. 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. PMID 29057428.{{cite journal}}: CS1 maint: multiple names: authors list (link
    )
  6. PMID 16971478
    .
  7. S2CID 44394902
    .
  8. PMID 17521373
    .
  9. 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.

Sources

External links
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