Gorlin Syndrome is diagnosed in individuals with two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria.
These criteria are based on examination of family cases in England, a land not noted for excessive sunlight. The numbers of BCCs acceptable as a major criterion will vary according to the climate, and will need adaptation for countries such as Australia.
- Lamellar (sheet like) calcification of the falx (fold in membrane of the brain descending vertically between the two halves of the brain) or clear evidence of calcification in an individual younger than age 20 years. Falx calcification is nearly always present and is visible on anteroposterior (AP) X-rays of the skull after 20 years.
- Odontogenic keracyst (jaw cyst) histologically seen on orthopantogram as an area of translucency.
- Palmar or planta pits (small blemishes on palms of hands and soles of feet) – two or more; particularly useful in diagnosis and more pronounced when the hands and feet are soaked in warm water for up to ten minutes. Pits may appear as white ‘punched out’ or pink ‘pin prick’ lesions.
- Multiple BCCs (>5 in a lifetime) or a BCC before age 30 years. Provision needs to be made for decreased risk of BCC in dark skinned races and increased risk in whites living in hot sunny climates.
- First degree relatives with Gorlin syndrome.
- Childhood medulloblastoma (also called primitive neuroctodermal tumour).
- Lympho-messenteric and pleural cysts.
- Cleft lip/palate.
- Vertebral/rib anomolies observed on chest X-ray: bifid/splayed/extra ribs, bifid vertebrae.
- Preaxial or postaxial polydactyly.
- Ovarina/cardiac fibromas.
- Ocular anomalies (cataract, development defects, and pigmentary changes of the retinal epithelium).
It is worth noting that some of the symptoms listed under minor criteria are rare. Speak to your doctor if you have worries or concerns about any aspect of the condition.
Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330 Oct 2015
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Reviewed and verified by Medical Advisers in conjunction with the Gorlin Syndrome Group 02/04/2018. Next Review April 2019.