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 practicing medicine in Portland, Maine. Dr. Guzman is rated as an Elite provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Buschke-Ollendorff Syndrome, Squamous Cell Skin Carcinoma, Basal Cell Skin Cancer, and Head and Neck Squamous Cell Carcinoma (HNSCC).
Diabetes And Endocrinology Center At Specialty Services Pavilion
Anupam Kotwal is an Endocrinologist practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 15 years. Dr. Kotwal is rated as an Advanced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Thyroid Cancer, Thyroid Nodule, Hyperthyroidism, Thyroidectomy, and Tenotomy.
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Buschke-Ollendorff Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.
Published Date: May 01, 2018
Published By: National Institutes of Health