Nevoid basal-cell carcinoma syndrome
Nevoid basal-cell carcinoma syndrome (NBCCS) 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 cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs). The name "Gorlin syndrome" refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the  basis for the term 'Gorlin-Goltz syndrome'. First described in 1960 by Gorlin and Goltz, 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. Signs  and symptoms. Some or all of the following may be seen in someone with Gorlin syndrome: Cause. Mutations in the human homologue of Drosophila patched ("PTCH1"), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome. Diagnosis. Diagnosis of NBCCS is made by having "two major criteria" or "one major" and "two minor criteria". The "major criteria" consist of the following: The "minor criteria" include the following: People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult . They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition. Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected. Treatment. Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition. Incidence. 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. Nevoid basal-cell carcinoma syndrome Nevoid