Learn About Buschke-Ollendorff Syndrome
Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone density called osteopoikilosis. Buschke-Ollendorff syndrome is classified as a disorder of connective tissues, which provide support, strength, and flexibility to organs and tissues throughout the body.
Buschke-Ollendorff syndrome results from mutations in the LEMD3 gene. This gene provides instructions for making a protein that helps control signaling through two chemical pathways known as the bone morphogenic protein (BMP) and transforming growth factor-beta (TGF-β) pathways. These signaling pathways regulate various cell functions and are involved in the growth of cells, including new bone cells.
Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 people worldwide.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person has a parent and other family members with the condition. While most people with Buschke-Ollendorff syndrome have both skin and bone abnormalities, some affected families include individuals who have the skin abnormalities alone or the bone abnormalities alone.
Dermatology Associates, LLC
Anthony Guzman is a Dermatologist in Portland, Maine. Dr. Guzman is rated as an Elite provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. His top areas of expertise are Buschke-Ollendorff Syndrome, Squamous Cell Skin Carcinoma, Basal Cell Skin Cancer, and Head and Neck Squamous Cell Carcinoma (HNSCC).
Summit Orthopedics
Tracy Rupke, M.D., is an orthopedic surgeon at Summit Orthopedics specializing in foot and ankle care, serving Minneapolis/St. Paul metro area patients. She has a special interest in sports medicine, orthopedic trauma, and reconstructive surgery of the foot and ankle. She did a sports medicine fellowship at the University of Ottawa in Canada, and a foot and ankle surgery fellowship at the University of Washington, Seattle. “I am dedicated to providing the best care possible for my patients,” she says. “I love running and understand every patient’s desire to return to their own life and activities.” She provides medical coverage for the U.S. Waterski team and volunteered surgical skills to underserved communities through One World Surgery. Dr. Rupke is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. Her top areas of expertise are Synovial Osteochondromatosis, Achilles Tendon Rupture, Osgood-Schlatter Disease, Osteochondritis Dissecans, and Hip Replacement.
Loyola University Medical Center
Felicity Fishman is a Hand Surgeon in Maywood, Illinois. Dr. Fishman is rated as an Advanced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. Her top areas of expertise are Syndactyly Type 2, Syndactyly, Syndactyly Type 1, and Proximal Symphalangism. Dr. Fishman is currently accepting new patients.
Published Date: May 01, 2018
Published By: National Institutes of Health