Adams–Oliver Syndrome

Abstract

Adams–Oliver syndrome is characterized by congenital aplasia of the skin (aplasia cutis congenita) and distal limb defects. The skin defects can occur anywhere on the body but are most frequently found on the posterior head affecting the scalp and, in more severe cases, the underlying parietal bones. As a minimal finding, single to multiple round or oval areas of alopecia may be identified in the parietal area. The limb defects are distal truncations affecting the distal phalanges or entire digits. Further proximal elements such as the metacarpals are rarely involved. Hypoplasia of the nails and distal phalanges is at the milder end of the clinical spectrum. Syndactyly of the 2nd and 3rd toes is also observed. Involvement of the limbs may be asymmetric and is more severe in the feet. The clinical features can also include cutis marmorata, dilated scalp veins, vascular defects, congenital cardiac malformations, and brain malformations. Overall, the phenotype is extremely variable even within families. Severity may vary from II/III toe syndactyly, which is a common finding, to hypoplasia of all toes or even absence of a hand or foot. The severity and frequency of the skin defects vary but occur in approximately 75 % of patients. This is a potentially life-threatening condition, and large skin defects that cannot be closed primarily may require skin grafting, flaps, or both.