Buschke Ollendorff Syndrome
Type of disease: Rare conditions
Buschke Ollendorff syndrome (BOS) is a rare, hereditary disorder of the connective tissue. It is mainly characterized by benign, connective tissue nevi (also called hamartomas) in the skin, as well as osteopoikilosis (‘spotted bones’ caused by small, round spots of increased bone density). In some individuals both the skin and bone are affected, while others may lack skin or bone manifestations. Some affected individuals have joint pain. Symptoms may begin at any age. BOS is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant manner. Surgery to remove skin lesions is sometimes done for cosmetic reasons and in some patients, surgical treatment of deafness is possible. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.