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 7 other conditions, according to our data. Her clinical expertise encompasses Clouston Syndrome, Ectodermal Dysplasias, Aplasia Cutis Congenita, and Vascular Birthmark. Dr. Frieden is currently accepting new patients.
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 17 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, Clouston Syndrome, Aplasia Cutis Congenita, and Naegeli-Franceschetti-Jadassohn Syndrome. Dr. Sprecher is currently accepting new patients.
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Background: \- To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some pe...
Published Date: March 01, 2014
Published By: National Institutes of Health