Corneodermatoosseous syndrome
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
- Medical encyclopedia article on Corneodermatoosseous syndrome
- Wikipedia's article - Corneodermatoosseous syndrome
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski