Epidermolysis Bullosa Dystrophica, Autosomal Recessive

Alternative Names

  • RDEB
  • Dystrophic Epidermolysis Bullosa, autosomal recessive
  • Epidermolysis Bullosa Dystrophica, Hallopeau-Siemens Type
  • EBR1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

226600

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3p21.31,Modifier 11q22.2

Description

Epidermolysis Bullosa Dystrophica (RDEB) is a rare autosomal recessive disorder characterized by tissue separation, which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Growth retardation is observed at an early age as well as in adults. Symptoms include fusion of all fingers and toes into mitten-like deformity, and esophageal and anal stenoses. Eye disorders are also common. There are different clinical types based on severity, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. The most severe and classic form is known as the Hallopeau-Siemens type (RDEB-HS). Patients with this disorder develop aggressive cutaneous squamous cell carcinoma (cSCC).

Epidermolysis Bullosa Dystrophica is caused by mutation in the COL7A1 gene on chromosome 3p21.31. COL7A1 encodes an important component required for the proper assembly of type VII collagen, which plays an essential role in strengthening and stabilizing the skin. Additionally, a defect in a functional SNP in the MMP1 gene, which results in increased collagenase activity, is associated with determining the severity of the Epidermolysis Bullosa Dystrophica disease. The plausible explanation for this observation could be that MMP1 acts as a modifier gene in RDEB.

Molecular Genetics

 

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
226600.1.1SyriaFemaleNoYes Abnormal blistering of the skin; Oral m...NM_000094.3:c.188_189delinsCHomozygousAutosomal, RecessiveFarooq et al, 2013
226600.2.1SyriaFemaleNoYes Abnormal blistering of the skin; Oral ...NM_000094.3:c.7929+11_26del16HomozygousAutosomal, RecessiveFarooq et al, 2013

Other Reports

Kuwait

Madi et al. (2005) investigated 7,739 live and still-born babies during the period from January 2000 to December 2001 in Al-Jahara Hospital in Kuwait. Of these, 97 babies suffered from major congenital abnormalities, suggesting an incidence of about 12.5 per 1000 birth. One of the babies was affected with Epidermolysis Bullosa Dystrophica.

Saudi Arabia

In a study to assess the prevalence of epidermolysis bullosa in the Eastern Province of Saudi Arabia, Abahussein et al. (1993) reviewed 49,902 dermatology cases seen over a 7-year period (1984 through 1990). Sixteen cases of epidermolysis bullosa were found in this series, 10 (62%) of which were of the dermolytic type (epidermolysis bullosa dystrophica), and four (25%) of the epidermolytic type (epidermolysis bullosa simplex). Parental consanguinity was established in 14 (88%) of these cases. All 10 cases of epidermolysis bullosa dystrophica developed complications. Three severe cases were treated with oral phenytoin and managed with meticulous nursing and nutrition with blended foods and protein and vitamin supplements and responded satisfactorily.

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