[MIM 226 730]

(epidermolysis bullosa junctionalis-pyloric atresia syndrome)

Prevalence: < 1.106. Association of pyloric atresia (see this term) with epidermolysis bullosa (see this term) more often of the junctionalis type. Autosomal recessive transmission of a mutation of the ITGB4 gene (integrin beta 4) (17q25.1), of the ITGA6 gene (integrin alpha 6) (2q31.1) or, more rarely, of the PLEC1 gene (plectin) (8q24.)

A localized cutaneous aplasia (aplasia cutis) is associated in 28 % of cases: this is then called Bart syndrome (see this term). 

There are 3 types of pyloric atresia:

-         type I (60 %):         presence of a membrane or one or two diaphragms in the pylorus

-         type II:         atresia without interruption of the digestive tract

-         type III:         atresia with a gap  between the stomach and the duodenum.

Types II and III: polyhydramnios, single gastric air bubble on X-Ray

   

Mortality 75 % ( of which 50 % in neonatal period): sepsis, renal failure. The children with a mutation of the caudal part of the ITGB4 gene have a better prognosis.

Anesthetic implications: 

echocardiography; neonatal upper digestive tract occlusion; management of a patient with epidermolysis (see epidermolysis bullosa).

References : 

-         Mylonas KS, Hayes M, Ko LN, Griggs CL et al.
Clinical outcomes and molecular profile of patients with Carmi syndrome: a systematic review and evidence quality assessment.
J Pediatr Surg 2019; 54: 1351-8.

       

Updated: July 2019