Buschke-Ollendorff Syndrome Overview
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 and is rated as an Elite provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. His top areas of expertise are Buschke-Ollendorff Syndrome, Acne, Molluscum Contagiosum, and Squamous Cell Skin Carcinoma.
Wake Forest University Health Sciences
Aaron Scott is an Orthopedics provider in Winston Salem, North Carolina. Dr. Scott and is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. His top areas of expertise are Achilles Tendon Rupture, Flat Feet, Clubfoot, Tendinitis, and Hip Replacement. Dr. Scott is currently accepting new patients.
University Of Virginia Physicians Group
Larry Borish is an Allergy and Immunologist in Charlottesville, Virginia. Dr. Borish and is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. Their top areas of expertise are Common Variable Immune Deficiency, Hives, Primary Immunodeficiency (PID), and Eosinophilic Granulomatosis with Polyangiitis (EGPA, Churg-Strauss Syndrome). Dr. Borish is currently accepting new patients.
Published Date: May 01, 2018
Published By: National Institutes of Health