Epidermolysis Bullosa, Junctional 1A, Intermediate

Alternative Names

  • JEB1A
  • Epidermolysis Bullosa, Junctional 1A, Generalized Intermediate
  • Epidermolysis Bullosa Junctional 1A, Non-Herlitz Type
  • Epidermolysis Bullosa Junctionalis, Non-Herlitz Type
  • Epidermolysis Bullosa Junctionalis, Progressive
  • Epidermolysis Bullosa Junctionalis, Severe Nonlethal
  • Epidermolysis Bullosa Junctionalis, Disentis Type
  • Epidermolysis Bullosa, Generalized Atrophic Benign
  • GABEB
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

226650

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q25.3, 1q32.2,10q25.1,18q11.2

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 non-Herlitz type, also known as generalized intermediate JEB, falls under the generalized JEB subtype. The non-Herlitz type is less severe and is characterized by localized to generalized blistering, nail dystrophy, scarring alopecia, and mucosal involvement. It is caused by mutations in COL17A1, LAMC2, LAMB3 or LAMA3 genes.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
226650.1.1LebanonFemaleYesYes Abnormal blistering of the skin; Alopec...NM_001017402.1:c.1460_1461insAHomozygousAutosomal, RecessiveFarooq et al, 2013 Proband
226650.1.2LebanonFemaleYesYes Abnormal blistering of the skin; Alope...NM_001017402.1:c.1460_1461insAHomozygousAutosomal, RecessiveFarooq et al, 2013 Sister of 226650.1.1
226650.1.3LebanonFemaleYesYes Abnormal blistering of the skin; Alop...NM_001017402.1:c.1460_1461insAHomozygousAutosomal, RecessiveFarooq et al, 2013 Sister of 226650.1.1
226650.2Palestine; United Arab...Yes Nail dystrophy; Oral mucosal blisters; ...NM_000228.3:c.3247C>T, NM_000228.3:c.1296_1297insACompound heterozygousAutosomal, RecessiveNakano et al. 2002 Compound heterozygou...
226650.G.1PalestineYesYes Abnormal blistering of the skin; Abnorm...NM_000494.4:c.3766+1G>AHomozygousAutosomal, RecessiveWhittock et al. 2003 Six patients from a ...
226650.G.2Saudi ArabiaYes Abnormality of skin pigmentation; Alope...NM_005562.3:c.136C>THomozygousAutosomal, RecessiveNakano et al. 2002 Unknown number of pa...
226650.G.3Saudi ArabiaYes Abnormality of skin pigmentation; Alope...NM_005562.3:c.136C>THomozygousAutosomal, RecessiveNakano et al. 2002 Unknown number of pa...
226650.G.4SudanYes Milia; Abnormality of skin pigmentatio...NM_000494.4:c.3676C>THomozygousAutosomal, RecessiveNakano et al. 2002 Unknown number of pa...
226650.G.5YemenYes Abnormality of skin pigmentation; Palmo...NM_000228.3:c.1942delGHomozygousAutosomal, RecessiveNakano et al. 2002 Unknown number of pa...

Other Reports

Kuwait

A survey performed by Bastaki et al. (1992) between 1985 and 1989 reported the overall incidence of genodermatosis in Kuwait Maternity Hospital to be 0.26 per 1000 livebirths. More specifically, the incidence of epidermolysis bullosa was 0.04 per 1000 livebirths in Kuwait during the over-mentioned period of five years.

[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.]

Oman

Rajab et al. (2005) undertook a study to estimate the prevalence of commonly diagnosed autosomal recessive diseases in Oman from a hospital-based register in years 1993 to 2002. The study revealed that epidermolysis bullosa was diagnosed in 15 patients, with an observed incidence of 1 in 30,000 births.

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, four children were born with epidermolysis bullosa.

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