Buschke-Ollendorff SyndromeSymptoms, Doctors, Treatments, Advances & More
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).
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. Her top areas of expertise are Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Familial Short Stature (FSS).
Proliance Surgeons
Dr. Mark Reed is a board-certified orthopedic surgeon providing specialty care of all foot and ankle disorders. He treats both adolescents and adults with a special focus on sports-related injuries, including ankle instability, cartilage lesions, and Achilles tendon injuries. He also performs joint replacements and reconstructive surgery for degenerative conditions such as arthritis and tendon dysfunction. In addition, he provides state-of-the-art treatment in the areas of fracture care and sports medicine.Dr. Reed worked for seven years as a mechanical engineer for a contractor to the Department of Defense before changing careers and enrolling in medical school. As an engineer he designed missile guidance systems and was part of the team that developed the jet engine for the F-22 Advanced Tactical Fighter.He earned his medical degree at the University of Alabama School of Medicine. His background in engineering fostered an interest in orthopedics, driving him to an orthopedic surgical residency at the University of Massachusetts. As a chief resident, he was selected as the recipient of the esteemed John J. Monahan award, given to the physician who best embodies patient-centered care.After his general orthopedics training, Dr. Reed was accepted at the Union Memorial Hospital Foot and Ankle Fellowship in Baltimore, Maryland, considered to be one of the most prestigious foot and ankle fellowship programs in the country. He trained under three of the leaders in the foot and ankle community, including the recent president of the American Orthopaedic Foot and Ankle Society, and participated in cutting-edge biomechanical and clinical research during his time in Baltimore.He has undergone advanced training in ankle joint replacement, including the Scandinavian Total Ankle Replacement (STAR) prosthesis, as well as in reconstructive procedures, including bunion, hammertoe, and flatfoot deformity correction.Dr. Reed is excited to join the Seattle medical community and to experience all the Pacific Northwest has to offer. Outside of work, he enjoys spending time with his wife and his three sons. He also enjoys golf, tennis, working out, and spending time outdoors. Dr. Reed is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. His top areas of expertise are Synovial Osteochondromatosis, Tendinitis, Freiberg's Disease, and Caffey Disease.
Published Date: May 01, 2018
Published By: National Institutes of Health