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Goltz–Gorlin syndrome : ウィキペディア英語版
Nevoid basal-cell carcinoma syndrome

Nevoid basal-cell carcinoma syndrome (NBCCS), also known as basal-cell nevus syndrome, multiple basal-cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.
About 10% of people with the condition do not develop basal-cell carcinomas (BCCs). The name ''Gorlin syndrome'' refers to researcher Robert J. Gorlin (1923–2006).〔() Robert W. Goltz was his co-worker.〕
First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the ''PTCH'' (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder.
==Incidence==
About 750,000 new cases of sporadic basal-cell carcinomas (BCCs) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCCs arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected.
By comparison, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmar and plantar pits.
One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

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「Nevoid basal-cell carcinoma syndrome」の詳細全文を読む



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