Epidermolysis Bullosa Junctionalis with Pyloric Atresia

Alternative Names

  • Epidermolysis Bullosa, Junctional, with Pyloric Atresia
  • Junctional Epidermolysis Bullosa with Pyloric Atresia
  • JEB-PA
  • Epidermylosis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita
  • EB-PA-ACC
  • Epidermolysis Bullosa with Pyloric Atresia
  • Aplasia Cutis Congenita with Gastrointestinal Atresia
  • Carmi Syndrome
  • EB-PA
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

OMIM Number

226730

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q31.1,17q25.1

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. Epidermolysis Bullosa Junctionalis with Pyloric Atresia (JEB-PA) is a rare form of generalized JEB. In addition to the widespread blistering, JEB-PA is characterised by congenital pyloric atresia, fusion of the skin between the fingers and toes, nail abnormalities, joint deformities, and alopecia. Survival of infants with this condition past the first year of life is very rare. JEB-PA is caused by mutations in ITGB4 (integrin-beta-4) or ITGA6 (integrin-alpha-6) genes.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
226730.1.1United Arab EmiratesMaleNoYes Aplasia cutis congenita; Microtia; Abn...NM_001079818.3:c.140C>THomozygousAutosomal, RecessiveAllegra et al. 2003
226730.2.1KuwaitFemaleYesYes Congenital pyloric atresia; Protein-los...NM_000213.4:c.3941_3943delHomozygousAutosomal, RecessiveSalvestrini et al. 2008 The proband had a si...

Other Reports

Qatar

Ismail (2001) reported two patients from the same tribe diagnosed with pyloric atresia with epidermolysis bullosa. Both babies developed sepsis post-operatively and died.

[Ismail A. Pyloric atresia with epidermolysis bullosa: two patients in one week. Qatar Med J. 2001; 10(2):64-6.]

Saudi Arabia

Al-Salem et al. (2002) reported five newborns, 4 males and 1 female, with congenital pyloric atresia, born in Saudi Arabia and the UAE. 

Tunisia

Cherif et al. (2005) described a newborn male with epidermolysis bullosa, aplasia cutis congenital, and pyloric atresia. The infant was the result of a consanguineous marriage and family history demonstrated that a previous infant died in the family because of epidermolysis bullosa.

United Arab Emirates

Nawaz et al. (2000) reported two cases of newborns with the coexistence of congenital pyloric atresia and epidermolysis bullosa. 

© CAGS 2022. All rights reserved.