GORLIN SYNDROME
Also known as
Nevoid Basal Cell Carcinoma Syndrome
Basal Cell Nevus Syndrome
Multiple Basal Cell Carcinoma
WHAT IS GORLIN SYNDROME?
Gorlin syndrome is an inherited autosomal dominant trait, meaning that there is a 50% chance that children will inherit it from their parents, however some cases occur as the result of a new mutation instead of an inherited one. Typically, the syndrome is expressed in young adulthood but on occasion children as young as 2 years of age manifest disease expression.
APPEARANCE
Palmar/Plantar Pits: Small pits or depressions on the palms of the hands and soles of the feet
Facial Differences: Larger head than usual, prominent forehead or jaw line, wide-set eyes, broad nasal bridge and eye problems
Skeletal Troubles: Including improper curve of the spine, a sunken or protruding chest, hand deformity, misaligned shoulder blades, fused or splayed ribs, intracranial calcification. Some children are born with a cleft lip or palate.
WHAT ARE THE TREATMENT OPTIONS?
• Electrodessication and curettage
• Laser Vaporisation
• Micrographic (Moh’s) Surgery
• Oral Retinoids
• Cryosurgery
• Surgical Excision
• Topical creams
• Photodynamic Therapy
Radiation therapy is not suitable for people with Gorlin Syndrome as it will generally causes masses of BCCs to form
WHAT SURVEILLANCE DO I NEED?
During Pregnancy: An ultrasound during pregnancy can help predict if a baby has a large head, so a delivery with forceps or by Caesarean section can be planned if required
Newborn: If a baby is born with a large head, X-rays can confirm the inheritance of Gorlin syndrome by detecting bone abnormalities
Childhood: Annual dental screening should commence from about 8 years of age for the detection and early treatment of jaw cysts. There is also a need for at least annual surveillance of the skin by a Dermatologist.
Adulthood: Adults should inspect their skin regularly. Annual surveillance of the skin by a Dermatologist is recommended and dental screening should continue into adult life, its frequency depending on the findings of each X-ray.
New jaw cysts often slow from the mid-thirties.
GENETIC TESTING AND COUNSELLING
Gorlin Syndrome results from an alteration of the PTCH-1 (Patched) tumour suppressor gene which effects the Hedgehog signaling pathway in the body’s cells.
Familial Cancer Centres offer genetic testing to confirm an alteration as well as provide counseling for families and manage their screening. Contact details of Familial Cancer Centres within Australia are listed over the page.
SYMPTOMS
Basal Cell Carcinoma (BCC): Multiple skin BCCs
Jaw Cysts: Multiple odontogenic keratocysts developing during teenage and young adult years
Brain Tumours: known as Medulloblastoma that develop in childhood
Brain Tumours: known as Medulloblastoma that develop in childhood
Fibromas: of the heart or in a woman’s ovaries.
Tumours can also develop in the brain, intestines, muscles and bone.
_______________________________________
CONTACTS AND SUPPORT
Information is available from:
BCCNS Life Support Network
Gorlin Syndrome Group
www.gorlingroup.org
info@gorlingroup.org (UK Group)Patient Fellowship is available from the Google Group:
Australian Gorlin Syndrome Mutual Support Group
“Gorlin Syndrome In And Beyond Australia” on Facebook
FAMILY CANCER CLINICS
Victoria
Monash Medical Centre
246 Clayton Road
CLAYTON VIC 3168
Phone: (03) 9594 2026
Peter MacCallum Cancer Centre
St Andrew's Place
EAST MELBOURNE VIC 3002
Phone: (03) 9656 1199
Royal Melbourne Hospital
Grattan St
PARKVILLE VIC 3050
Phone: (03) 9342 7151
Austin Repatriation Hospital
Banksia Street
WEST HEIDELBERG VIC 3081
Phone: (03) 9496 5000
Australian Capital Territory
The Canberra Hospital
GARREN ACT 2606
Phone: (02) 6244 4042
Northern Territory
Women's and Children's Hospital
NORTH ADELAIDE SA 5006
Phone: (08) 8204 7375
Queensland
Herston Hospital Complex
HERSTON QLD 4029
Phone: (07) 3636 1686
Brisbane North Breast Cancer Family Clinic
534 Hamilton Road
CHERMSIDE QLD 4032
Phone: (07) 3350 7411
Western Australia
Genetic Services of Western Australia
374 Bagot Road
SUBIACO WA 6006
Phone: (08) 9340 1603
Telephone: (08) 9483 2824
Perth Mount Hospital
140 Mounts Bay Road
PERTH WA 6000
NSW
Royal Prince Alfred Hospital
CAMPERDOWN NSW 2050
Phone: (02) 9515 5080
St George Hospital
Gray St
KOGARAH NSW
Phone: (02) 9350 3815
Nepean Hospital
PO Box 63
PENRITH NSW 2750
Phone: (02) 4734 3362
Hunter Genetics
PO Box 84
WARATAH NSW 2298
Phone: (02) 4985 3132
Prince of Wales Hospital
High Street
RANDWICK NSW 2031
Phone: (02) 9382 2551
St Vincents Hospital
Victoria Rd
DARLINGHURST NSW 2011
Phone: (02) 8382 3395
Westmead Hospital
WESTMEAD NSW 2145
Phone: (02) 9845 6947
Royal North Shore Hospital
Level 2 Vindin House
ST LEONARDS NSW 2065
Phone: (02) 9926 5665
Wollongong Hospital
Phone: (02) 4222 5576
South Australia
Women's and Children's Hospital
NORTH ADELAIDE SA 5006
Phone: (08) 8161 6995
Tasmania
Royal Hobart Hospital
PO Box 1061L
HOBART TAS 7000
Phone: (03) 6222 8296
Due to the rarity of Gorlins Syndrome, clinical trials are not currently available in Australia. Part of the problem is that researchers cannot find enough cases to study to make the progress needed to find better treatments and provide more information about your disease. You can be involved by registering your information with the Centre for Analysis of Rare Tumours (CART-WHEEL) as well as be contacted for participation in a relevant trial.
www.cart-wheel.org
Are you looking to find a family dentist? You don't have to lower your expectations to just any family dentist, and you need to place higher standards for the health of your teeth.
ReplyDeletesee more details:Everett Invisalign