Learn About Bjornstad Syndrome
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Björnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.
Björnstad syndrome is caused by mutations in the BCS1L gene. The protein produced from this gene is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. In mitochondria, the BCS1L protein plays a role in oxidative phosphorylation, which is a multistep process through which cells derive much of their energy. The BCS1L protein is critical for the formation of a group of proteins known as complex III, which is one of several protein complexes involved in this process. As a byproduct of its action in oxidative phosphorylation, complex III produces reactive oxygen species, which are harmful molecules that can damage DNA and tissues.
Björnstad syndrome is a rare condition, although its prevalence is unknown. It has been found in populations worldwide.
Björnstad syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Kevin Gaffney is a Dermatologist in Flint, Michigan. Dr. Gaffney is rated as a Distinguished provider by MediFind in the treatment of Bjornstad Syndrome. His top areas of expertise are Liver Spots, Universal Acquired Melanosis, Papular Urticaria, and Rosacea. Dr. Gaffney is currently accepting new patients.
Dermatology Associates Of VA PC
Angela Sprigle is a Dermatologist in Colonial Heights, Virginia. Dr. Sprigle is rated as an Experienced provider by MediFind in the treatment of Bjornstad Syndrome. Her top areas of expertise are Actinic Keratosis, Warts, Seborrheic Keratosis, and Psoriasis. Dr. Sprigle is currently accepting new patients.
Piedmont Heart Of Sharpsburg
Dr. Dhruva specializes in clinical cardiology and cardiac imaging. A graduate with honors from medical school in Baroda, India, he came to the United States for post-graduate training in 1991. Dr. Dhruva completed his internship and residency at Albert Einstein College of Medicine/Jacobi Hospital in New York City and finished his cardiology training at Brown University School of Medicine/The Miriam Hospital in Providence, Rhode Island. In 1998, Dr. Dhruva proudly became a U.S. citizen and became board certified by the American Board of Internal Medicine and its subspecialty Board of Cardiovascular Disease. He later earned additional board certification in echocardiography and nuclear cardiology. Dr. Dhruva is a fellow of the American College of Cardiology, the American Society of Echocardiology, and the American Society of Nuclear Cardiology. He has been published in peer review medical journals and has presented at numerous national and international cardiology conferences. Specializing in clinical cardiology and cardiac imaging, Dr. Dhruva performs coronary angiograms and permanent pacemaker insertions. Dr. Dhruva has been published extensively in hypertension literature and in heart failure literature winning the young investigator award in 1997. He has served as Chief of Medicine at Fayette Hospital, he has been the Director of Cardiology at Piedmont Fayette Hospital since 1994. He has served on the Piedmont Clinic Board as its vice chairman. He currently serves on the Board of Fayette Care Clinic. He has held numerous leadership positions, including serving as Chairman of the Department of Medicine and Director of the Cardiac Catheterization Lab at Piedmont Fayette Hospital. In his spare time, Dr. Dhruva enjoys tennis, reading, yard work and spending quality time with his wife Ami and children Pooja and Neil. Dr. Dhruva is rated as an Experienced provider by MediFind in the treatment of Bjornstad Syndrome. His top areas of expertise are Coronary Heart Disease, Atherosclerosis, Atrial Fibrillation, Angina, and Pacemaker Implantation.
Published Date: March 01, 2014
Published By: National Institutes of Health