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Recessive aplasia cutis congenita of limbs
rareRecessive 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.
- Identifiers
- MONDO:0010876 OMIM:600360Orphanet:1115
- Part of
- Mixed dermis disorder
- Also known as
- aplasia cutis congenita of limbs recessive · congenital absence of skin on the upper or lower limbs · recessive aplasia cutis congenita of the limbs
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