[MIM 609 057]

(junctional epidermolysis bullosa with respiratory and renal involvement)

Very rare. Autosomal recessive transmission of a mutation of the CD151 gene (11p15.5).

Association of:

-        congenital nephrotic syndrome

-         pretibial epidermolysis bullosa: recurrent bullous lesions easily infected

-        sensorineural deafness

Anesthetic implications:

check renal function, hypoalbuminemia

References : 

Updated: July 2018