recessive aplasia cutis congenita of limbs
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.
MONDO:0019294
mixed dermis disorder
is_a
aplasia cutis congenita of limbs recessive
related
congenital absence of skin on the upper or lower limbs
related
recessive aplasia cutis congenita of the limbs
related