Clouston's hidrotic ectodermal dysplasia
Clouston's hidrotic ectodermal dysplasia (pronounced kloo-stuhns hy-dro-tik ek-to-der-mal dis-pla-see-uh), also known as Hidrotic Ectodermal Dysplasia 2 or Clouston Syndrome, is a rare genetic disorder that primarily affects the skin, hair, and nails.
Etymology
The condition is named after Canadian physician and medical geneticist, Dr. George Clouston, who first described the condition in 1895. The term 'hidrotic' refers to the excessive sweating (hyperhidrosis) that is often associated with the condition, and 'ectodermal dysplasia' refers to the abnormal development of the ectoderm - the outermost layer of the embryo that develops into the skin and its appendages, including hair, nails, and sweat glands.
Symptoms
People with Clouston's hidrotic ectodermal dysplasia typically have sparse hair (hypotrichosis), abnormal nails (onychodystrophy), and excessive sweating (hyperhidrosis). Other symptoms may include palmoplantar keratoderma (thickening of the skin on the palms of the hands and soles of the feet), and a range of dental abnormalities.
Causes
Clouston's hidrotic ectodermal dysplasia is caused by mutations in the GJB6 gene, which provides instructions for making a protein called connexin 30. This protein is found in the epidermis (the outer layer of the skin) and is involved in the formation and maintenance of gap junctions - channels that allow molecules and ions to pass freely between neighboring cells.
Treatment
There is currently no cure for Clouston's hidrotic ectodermal dysplasia. Treatment is symptomatic and supportive, and may include measures to manage excessive sweating, care for the skin and nails, and dental interventions.
See also
External links
- Medical encyclopedia article on Clouston's hidrotic ectodermal dysplasia
- Wikipedia's article - Clouston's hidrotic ectodermal dysplasia
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