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epidermodysplasia verruciformis : ウィキペディア英語版
epidermodysplasia verruciformis

Epidermodysplasia verruciformis (also called Lewandowsky-Lutz dysplasia), colloquially known as tree man illness is an extremely rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It is characterized by abnormal susceptibility to human papillomaviruses (HPVs) of the skin.〔 〕 The resulting uncontrolled HPV infections result in the growth of scaly macules and papules, particularly on the hands and feet. It is typically associated with HPV types 5 and 8, which are found in about 80 percent of the normal population as asymptomatic infections, although other types may also contribute.〔
The condition usually has an onset of between the ages of 1–20, but can occasionally present in middle-age.〔 It is named after the physicians who first documented it, Felix Lewandowsky and Wilhelm Lutz.〔(Lewandowsky-Lutz dysplasia: Who Named It? )〕
== Genetics ==
The cause of the condition is an inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17.〔 The precise function of these genes is not yet fully understood, but they play a role in regulating the distribution of zinc in the cell nuclei. Zinc is a necessary cofactor for many viral proteins, and that the activity of EVER1/EVER2 complex appears to restrict the access of viral proteins to cellular zinc stores, limiting their growth.
Other genes have also rarely been associated with this condition. These include the ras homolog gene family member H.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「epidermodysplasia verruciformis」の詳細全文を読む



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