The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) (also known as Basal Cell Nevus Syndrome, Multiple Basal Cell Carcinoma Syndrome, Gorlin syndrome, or Gorlin-Goltz syndrome) is an inherited group of multiple defects involving the skin, nervous system, eyes, endocrine system, and bones. The condition can cause unusual facial appearances and a predisposition for skin cancer, and it is inherited as an autosomal dominant trait. 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. It has been suggested that this article or section be merged with Epidermis (skin). ... The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... This article refers to the sight organ. ... This article or section does not cite its references or sources. ... Grays Anatomy illustration of a human femur. ... Skin cancer is a malignant growth on the skin, which can have many causes, including repeated severe sunburn or long-term exposure to the sun. ... An autosomal dominant gene is one that occurs on an autosomal (non-sex determining) chromosome. ... Molecular genetics is the field of biology which studies the structure and function of genes at a molecular level. ... Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ... Chromosome 9 is one of the 23 pairs of chromosomes in humans. ...

About 750,000 new cases of sporadic basal cell carcinoma (BCC) 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 BCC arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, one of the prime features of NBCCS is development of multiple BCC 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 manifestations characteristic of it than others. Basal cell carcinoma (BCC) is the most common skin cancer. ... The solar corona as seen in deep ultraviolet light at 17. ...

Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

1. more than 2 BCCs or 1 BCC in a person younger than 20 years;
2. odontogenic keratocysts of the jaw
3. 3 or more palmar or plantar pits
4. calcification of the falx cerebri
5. bifid, fused, or splayed ribs
6. first-degree relative with NBCCS.

The minor criteria include the following: An odontogenic keratocyst is a benign but locally aggressive developmental odontogenic cyst. ... The falx cerebri (Latin: scythe of the brain) is an extension of the protective dura mater that projects into the longitudinal fissure that seperates the two cerebral hemispheres. ...

1. macrocephaly.
2. congenital malformations, such as cleft lip or palate, frontal bossing, or hypertelorism.
3. other skeletal abnormalities, such as Sprengel deformity, pectus deformity, or syndactyly.
4. radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5. ovarian fibroma or medulloblastoma.

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 BCC. 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. Macrocephaly (from the greek words μακρύς, meaning long, and κεφάλη, meaning head), a type of cephalic disorder, is a condition in which the head circumference is larger than average for the age and sex of the infant or child. ... A congenital disorder is a medical condition that is present at birth. ... For other uses, see Cleft (disambiguation). ... Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes (orbital hypertelorism), seen in a variety of syndromes, including DiGeorge syndrome and Loeys-Dietz syndrome. ... Sprengels deformity is a relatively rare and congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. ... Pectus excavatum is a congenital deformity (present at birth) that causes the sternum to be depressed into the chest causing a caved-in or sunken look. ... In zoology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of an animal. ... The Sella turcica (literally Turkish saddle) is a saddle-shaped depression in the sphenoid bone at the base of the human skull. ... Soft Fibroma (fibroma molle). ... It has been suggested that this article or section be merged into brain tumor. ... Clinac 2100 C100 accelerator Radiation therapy (or radiotherapy) is the medical use of ionizing radiation as part of cancer treatment to control malignant cells (not to be confused with radiology, the use of radiation in medical imaging and diagnosis). ...

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected. Genetic counseling is the process by which patients or relatives, at risk of an inherited disorder, are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning in order to prevent, avoid or...

References

• Kimonis VE, Goldstein AM, Pastakia B, et al: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997 Mar 31; 69(3): 299-308 [1].

• Johnson RL, Rothman AL, et. al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996 Jun 14; 272: 1668-1671 [2].

• Gorlin RJ and Goltz RW. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome. New England Journal of Medicine 1960 May 5;262:908-912. [3]

External links

• BCCNS Life Support Network (US support site)
• Gorlin Group (UK support site)
• US National Library of Medicine page