Clouston SyndromeSymptoms, Doctors, Treatments, Advances & More
Clouston Syndrome Overview
Learn About Clouston Syndrome
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.
Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules.
The prevalence of Clouston syndrome is unknown. Cases have been reported in many populations; the disorder is especially common among people of French-Canadian descent.
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.
Office
Ilona Frieden is a Pediatrics provider practicing medicine in San Francisco, California. Dr. Frieden is rated as an Elite provider by MediFind in the treatment of Clouston Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses PHACE Syndrome, Hemangioma, Clouston Syndrome, and Ectodermal Dysplasias.
Holm Schneider practices practicing medicine in Erlangen, Germany. Schneider is rated as an Elite expert by MediFind in the treatment of Clouston Syndrome. They are also highly rated in 13 other conditions, according to our data. Their clinical expertise encompasses Hypohidrotic Ectodermal Dysplasia, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.
Children's Hospital Primary Care Center (CHPCC)
Eli Sprecher is a Pediatrics provider practicing medicine in Boston, Massachusetts. Dr. Sprecher is rated as an Elite provider by MediFind in the treatment of Clouston Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Ectodermal Dysplasias, Aplasia Cutis Congenita, Clouston Syndrome, and Naegeli-Franceschetti-Jadassohn Syndrome.
Background: NF1 is a genetic disease that causes tumors called atypical neurofibromas. These tumors, which arise from nerves, can cause serious medical problems. The only treatment is surgery. Researchers want to see if a drug called abemaciclib can help.
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Published Date: March 01, 2014
Published By: National Institutes of Health