Clinical and Molecular Insights into Buschke-Ollendorff Syndrome: A Comprehensive Review of Osteopoikilosis and Dermatofibrosis Lenticularis Disseminata

Abstract

Buschke-Ollendorff Syndrome (BOS) is a rare genetic disorder characterized by the concurrent manifestation of osteopoikilosis and dermatofibrosis lenticularis disseminata. The syndrome is caused by mutations in the LEMD3 gene, leading to the dysregulation of TGF-β signaling pathways, which play a critical role in both bone and skin homeostasis. Clinically, BOS presents with asymptomatic, radiographically detectable osteopoikilosis—small, round, sclerotic bone lesions—and multiple yellow-brown papules distributed over the trunk and extremities, indicative of dermatofibrosis lenticularis disseminata. This review aims to provide a detailed exploration of the genetic and pathophysiological mechanisms underlying BOS, with an emphasis on the clinical manifestations, diagnostic approaches, and current management strategies. Additionally, this article discusses the implications of BOS for differential diagnosis in orthopedic and dermatologic practice, highlighting the importance of recognizing the syndromic association to avoid misdiagnosis. The potential for targeted therapies that address the underlying molecular defects in BOS will also be examined.