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Cutaneous Features of Adams-Oliver Syndrome: Diagnosis, Differentiation, and Management
Sabrina Yang1, Joseph M Lam2,3
1Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Abstract:
Adams-Oliver syndrome (AOS) is a rare genetic disorder primarily characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects. The condition presents with a range of cutaneous features, most notably ACC, cutis marmorata telangiectatica congenita, and nail anomalies. Given that skin findings are often the earliest and most recognizable signs of AOS, dermatologists play an important role in early diagnosis, enabling prompt genetic evaluation and coordinated multidisciplinary care. However, the syndrome's varied inheritance patterns and heterogeneous presentation contribute to a broad range of severity and clinical manifestations, posing challenges in both recognition and management. This review explores the clinical presentation, diagnostic criteria, and management strategies for AOS, with a particular focus on its cutaneous manifestations.
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