[MIM 132 000]

Extremely rare. Autosomal dominant transmission with variable expression of a mutation of the COL7A1 gene (3p32.31).Association of epidermolysis bullosa simple, areas of aplasia cutis and anomalies of the nails (absence).  It is considered as a variant of epidermolysis bullosa, but all forms of epidermolysis have been described. Some believe that the areas of skin aplasia are the result of the breakdown of bullae in utero.

Sometimes associated with pyloric atresia (see Carmi syndrome)

Anesthetic implications: 

see epidermolysis bullosa

References : 

-         Bajaj DR, Qureshi A. 
Bart’s syndrome: a case report. 
J Pakistan Ass Dermatologists 2008; 18: 113-5.

       

Updated: August 2019