Gorlin Syndrome is an autosomal dominant genetic condition (which can affect either sex). Each child of a person with Gorlin Syndrome has a 1 in 2 (50:50) chance of inheriting the faulty gene and so developing signs of the condition. The faulty gene is located at 9q22.3 . There is a prevalence of 1 in 55,000 people affected by the condition, based upon studies carried out.
The main characteristics of the condition are multiple basal cell carcinoma (BCCs), recurrent jaw cysts and non-progressive skeletal abnormalities. Other hallmarks are palmar and plantar pits, ectopic calcification and an increased incidence of congenital malformations.
The syndrome is know by several different names:
? Gorlin syndrome
? nevoid basal cell carcinoma syndrome
? basal cell nevus syndrome
Not only does the variability of the condition manifest itself in the presence or absence of a particular feature, but also in severity. For the purpose of diagnosis symptoms are based on the most frequent and/or specific features, with 2 major or one major and 2 minor criteria, as follows:
? (>2) basal cell carcinoma or one under 30 years, or 10 basal cell naevi
? Any odotogenic keratocyst or polyostotic bone cyst
? Palmar or plantar pits (3 or more)
? Ectopic calcification or early (<20 yrs) falx calcification
? Family history or NBCCS - Gorlin Syndrome
? Congenital skeletal anomaly: bifid, fused, splayed or missing rib or bifid, wedged or fused vertebra
? or Cardiac or ovarian fibroma
? Lymphomesenteric cysts
? Congenital malformation: cleft lip and or palate, polydactyly, eye anomoly (cataract, colobma, microphtalmia)
Patients with Gorlin Syndrome require special consideration because of the possibility of developing multiple skin cancers. Cancer of the skin is generally grouped into non-melanoma (basal and squamous cell carcinoma) and melanoma (pigmented) types. Concerning Gorlin Syndrome, basal cell carcinomas (BCCs) are the predominant type, hence the following information is mainly applicable to this form of skin cancer, i.e. BCCs.
? Electrodessication and curettage
? Laser Vaporisation
? Surgical excision
? Micrographic (Moh's) Surgery
? Topical 5-fluorouracil (5-FU)
? Oral retinoids
? Photodynamic therapy (PDT)
Currently, there are multiple treatments available for non-melanoma skin cancer. The ideal treatment should be one that most effectively eradicates the cancer, maximally spares normal skin, is painless, without side effects, and heals rapidly with minimal scarring. Each patient and individual skin cancer(s) may demonstrate different features that make one of the above treatments more effective than the others. All patients diagnosed with skin cancer should be educated on all possible treatment options. The ?best? treatment is one that is selected, by the patient and physician, after reaching a complete understanding of the available therapeutic modalities.
Radiation therapy , or x-ray therapy, is used much less frequently than in the past, and still may be useful in the treatment of certain BCCs. However, when used in some patients with Gorlin syndrome, radiotherapy may lead to the rapid development of new basal cell carcinomas and therefore should only be used under special/exceptional circumstances!
Treatment in respect of other aspects of the condition would depend greatly on the symptoms patient presents with. It is, however, essential that regular screening is carried out for changes in the skin and for the recurrent jaw cysts (keratocysts).
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