Learn About Kindler Syndrome
Kindler epidermolysis bullosa (or Kindler EB) is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Kindler EB results from variants (also known as mutations) in the FERMT1 gene. This gene provides instructions for making a protein known as kindlin-1. This protein is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. In the skin, kindlin-1 plays a critical role in specialized cells called keratinocytes, which are the major component of the epidermis. Kindlin-1 is involved in several important cell functions, including cell growth and division (proliferation), the attachment of cells to the underlying network of proteins and other molecules (cell-matrix adhesion), and the movement (migration) of cells.
Kindler EB appears to be rare. About 250 cases have been reported worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Cristina Has practices in Freiburg, Germany. Ms. Has is rated as an Elite expert by MediFind in the treatment of Kindler Syndrome. Her top areas of expertise are Dominant Dystrophic Epidermolysis Bullosa, Dowling-Meara Epidermolysis Bullosa Simplex, Epidermolysis Bullosa, and Junctional Epidermolysis Bullosa.
UT Southwestern Medical Center
Arturo Dominguez is an Internal Medicine provider in Dallas, Texas. Dr. Dominguez is rated as a Distinguished provider by MediFind in the treatment of Kindler Syndrome. His top areas of expertise are Pemphigus, Bullous Pemphigoid, Pemphigus Vulgaris, and Kindler Syndrome.
Johns Hopkins Outpatient Center
Dr. Grant Anhalt is a professor of dermatology at the Johns Hopkins University School of Medicine. His areas of clinical expertise include autoimmune skin diseases and dermatoimmunology. Dr. Anhalt serves as the director of the Dermatoimmunology Laboratory at the Johns Hopkins School of Medicine. He received his undergraduate degree and his M.D. from the University of Manitoba. He completed a residency in internal medicine at the Health Sciences Center in Winnipeg, Canada and a residency in dermatology at the University of Michigan. He performed a fellowship in immunodermatology at the University of Michigan Medical Center. Dr. Anhalt joined the Johns Hopkins faculty in 1982. He was interim chair of the Department of Dermatology from 1996 to 2001. His research interests include autoimmunity, bullous skin diseases and pemphigus and pemphigoid. Dr. Anhalt serves on the medical advisory board for the International Pemphigus & Pemphigoid Foundation. He has been recognized as a top doctor in the Washington Post Magazine, Baltimore Magazine and Castle Connolly Guide. He is a member of several professional organizations, including the American Academy of Dermatology, American Dermatologic Association and American Society for Clinical Investigation. CV http://www.hopkinsmedicine.org/dermatology/our_experts/CV/Anhalt_CV_2014.docx. Dr. Anhalt is rated as an Advanced provider by MediFind in the treatment of Kindler Syndrome. His top areas of expertise are Pemphigus Vulgaris, Pemphigus, Pemphigus Foliaceus, and Bullous Pemphigoid.
Published Date: March 17, 2023
Published By: National Institutes of Health