Buschke-Ollendorf Syndrome: Report of a Case and a Brief Molecular Overview

Abstract

Buschke-Ollendorf syndrome (BOS) is a rare autosomal dominant disorder characterized by localized increases in bone density manifesting as osteopoikilosis or melorheostosis and connective tissue nevi, collagenomas. Manifestations are highly variable. It is caused by loss-of-function mutations in the LEMD3 gene, which codes for an inner nuclear membrane protein that is also known as MAN1. Six different mutations have been described to date without a clear genotype- phenotype correlation. Buschke-Ollendorf syndrome exemplifies the importance of TGFß signaling for bone and connective tissue homeostasis. Here, we report on a father and his daughter with typical BOS syndrome caused by a known nonsense mutation and provide an overview of what is now known of this rare disorder.