/recessive aplasia cutis congenita of limbs

recessive aplasia cutis congenita of limbs

Rare Disease

MONDO:0010876

Also Known As

aplasia cutis congenita of limbs recessiveaplasia cutis congenita of limbs, autosomal recessivecongenital absence of skin on the upper or lower limbsrecessive aplasia cutis congenita of the limbs

Definition

Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980.