Corneodermatoosseous syndrome

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Corneodermatoosseous Syndrome

Corneodermatoosseous syndrome (pronunciation: kor-nee-o-der-ma-to-os-see-us sin-drome) is a rare genetic disorder characterized by abnormalities of the skin, hair, nails, and bones.

Etymology

The term "Corneodermatoosseous" is derived from the Latin words "corneus" meaning "horny", "derma" meaning "skin", "osseous" meaning "bone", and "syndrome" meaning "a group of symptoms".

Symptoms

The symptoms of Corneodermatoosseous syndrome include keratoderma, a condition characterized by thickened skin on the palms and soles, ectodermal dysplasia, which affects the development of the skin, hair, nails, and teeth, and osteosclerosis, a condition that results in abnormally dense bone.

Causes

Corneodermatoosseous syndrome is caused by mutations in the DLX3 gene. This gene provides instructions for making a protein that is involved in the development of the bones, teeth, and skin.

Diagnosis

Diagnosis of Corneodermatoosseous syndrome is based on clinical examination, genetic testing, and imaging studies such as X-ray and CT scan.

Treatment

Treatment for Corneodermatoosseous syndrome is symptomatic and supportive, and may include skin care to manage keratoderma, dental care to manage dental abnormalities, and orthopedic care to manage bone abnormalities.

See Also

External links

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