recessive aplasia cutis congenita of limbs
MONDO:0010876Mondo
Findings
No curated finding names recessive aplasia cutis congenita of limbs yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010876), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of