Epidermolysis Bullosa, Junctional 1B, Severe

Alternative Names

  • JEB1B
  • Epidermolysis Bullosa, Junctional, Generalized Severe
  • Epidermolysis Bullosa Junctionalis, Herlitz Type
  • JEB-Herlitz Type
  • Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
  • Herlitz-Pearson-Type Epidermolysis Bullosa
  • Epidermolysis Bullosa Letalis
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

226700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q25.3, 1q32.2,18q11.2

Description

Epidermolysis bullosa (EB) is a group of inherited disorders characterised by fragility and blistering of skin. Depending on which layer the blisters form in, EB is classified into four different types: epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, and Kindler syndrome.

Junctional epidermolysis bullosa (JEB) is caused by blister formation within the basement membrane and is further classified broadly into generalized JEB and localized JEB. JEB Herlitz type, also known as generalized severe JEB, falls under the generalized JEB subtype. The Herlitz type is severe with cutaneous, mucosal, and renal involvement. Life threatening secondary complications, including sepsis, electrolyte imbalance, and anemia limit the survival of infants with Herlitz type JEB to the first year of life in most cases. Herlitz type is caused by mutations in LAMC2, LAMB3 or LAMA3 genes.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
226700.1.1LebanonFemaleYesYes Abnormal blistering of the skin; Nail dy...NM_198129.2:c.4299dupHomozygousAutosomal, RecessiveAyoub et al. 2005
226700.2.1LebanonFemaleYesYes Abnormal blistering of the skin; Nail dy...NM_198129.2:c.4299dupHomozygousAutosomal, RecessiveAyoub et al. 2005
226700.3LebanonNM_198129.3:c.1789-7_1789-5delTTCHomozygousAutosomal, RecessiveNair et al. 2018

Other Reports

Kuwait

Kuwait - A study conducted to determine the overall incidence of genodermatosis in Kuwait Maternity Hospital between 1985 and 1989, Bastaki et al. (1992) reported the incidence of epidermolysis bullosa to be 0.04 per 1000 livebirths.

[Bastaki L, Al-Awadi A, Naguib KK. Incidence of genodermatosis among the neonates in Kuwait Maternity Hospital: 1985 to 1989 survey report, Kuwait Medical Genetics Centre, 1992, Kuwait.]

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