I did not go to Perth; the owner of the email group had a table in the Trade Display, assisted by her husband, as representatives of the mutual support group that she had founded. They live in Victoria, but have travelled to Adelaide a few times already, to meet the local group. At the convention, they had a video from the UK playing at their table; "Bitter Inheritance"; the story of Jim Costello and family. Jim began the patients' group in the UK, and his widow Margaret continues the work since he died from invasive basal cell carcinomas. Read more:
http://bioethicsbytes.wordpress.com/2007/07/24/the-costello-family-bitter-inheritance/
That blog included this statement:
"One of the over-riding impressions from this episode of Bitter Inheritance is the isolation that can be experienced by people with rare genetic conditions, and the key role played by support groups (00:30:05 to 00:40:00). Even when treatments and cures are not available, being able to share your experience with others who truly understand your situation can be a huge benefit."
This is a good summary of the main current reason for this blog, and for the Australian mutual support group. When we gather, we discuss many things, as friends will, "solving the problems of the world" with much laughter as we eat and drink, but we can also discuss the impact of Gorlin Syndrome on our lives, knowing that the others present truly understand, because we all must deal with GS in our lives. I encourage you to contact us, by leaving a comment on this blog page, or see the email addresses in the document below.
As the document was written for dermatologists, I concentrated on signs they might see as they examine patients. If I were to write for dentists and oral surgeons, I would have concentrated on the mouth more than on skin, emphasising incomplete dentition (missing teeth) and oral cysts. Those were among my first symptoms, but my oral surgeons failed to diagnose GS. Later, I began to develop BCCs, but my dermatologist and plastic surgeon also failed to diagnose GS. I may tell in a later post how the diagnosis was finally made.
I think there may be many people with GS who remain undiagnosed, for too long. I have met one who was only diagnosed once her son was born; he was diagnosed with GS, in early life. I predict that, as people protect their skin now, affected by the "slip, slop, slap, seek, slide" health warnings, and spend large % of their time in indoor jobs and recreation, an increasing % of people with GS might present first with symptoms other than "numerous basal cell carcinomas". I hope that dentists and oral surgeons will become better at diagnosing GS early, and initiating an appropriate health care plan, liaising with the patient's other health care providers. It may be just a dream. For now, much relies on educating patients, so they can achieve better health outcomes for themselves and for their loved ones, by being proactive. Therefore, I started this blog.
At last I come to the dermatologists' handout. I kept it very brief, as it had to fit on a double sided A4 page, at a reasonable font size. It was written using some of the conventions of scientific research articles, including having references at the end. The references, which had been used as direct sources of information in the handout, can be read online; copy and paste the urls into your browser's address bar, but be aware that they are written by specialists for specialists; they use a lot of scientific and medical jargon; your medical professionals might find them informative, if you give them a copy.
The jargon in my document for the dermatologists may also be hard for non- medical people to understand. If so, please look at later posts here, as I intend to post material in language more suited to the "layman". Our members also handed out copies of a "Patient Brochure", for which I had assisted a little with editing of its text. The intention was that doctors could give copies of the Patient Brochure to patients and carers, so it is simpler to read. I will post about that later; I may retype its contents. I only have it as hard copy and as a scanned image.
See where I recommend resources that are suitable for patients and carers:
COULD YOU DETECT GORLIN SYNDROME?
You may have a patient with Gorlin Syndrome. Would you recognise this syndrome? It varies in presentation. Though it is present at birth, as a result of a genetic mutation, some cases are diagnosed in the fourth decade or later, sometimes after use of suboptimal or hazardous therapies on tumours as they appeared, and often after they have passed the mutation to subsequent generations, being unaware that their problems are heritable. This document aims to assist medical professionals in timely diagnosis of Gorlin Syndrome (type 1), to achieve better health for patients. The author has a medical science background, has Gorlin Syndrome, and is involved in the Australian Mutual Support Group for people living with Gorlin Syndrome.
The syndrome has various names, including:
Gorlin – Gotz Syndrome
Basal Cell Carcinoma Nevus Syndrome (BCCNS)
Nevoid Basal Cell Carcinoma Syndrome or Naevoid Basal Cell Carcinoma Syndrome (NBCCS)
Basal Cell Nevus Syndrome or Basal Cell Naevus Syndrome (BCNS)
Fifth phacomatosis
Many patients, and their relatives, prefer to use the name "Gorlin syndrome", since it does not contain the word "carcinoma" (1).
Gorlin Syndrome is heritable as an autosomal dominant trait, with complete penetrance and variable expressivity (1). However, a significant % of patients have no family history of BCNS; estimates of these “new mutations” range from 40% to 60% (1, 2). Gorlin Syndrome results from a mutation affecting the Sonic Hedgehog Signalling Pathway, usually in the gene PTCH1 (“Patched 1”), but some cases result from mutation affecting SMO (“Smoothened”) (2). Some patients also have a mutation in PTCH2 (“Patched 2”), and this is associated with higher numbers of tumours. (1)
The estimated prevalence varies from 1/30,827 to 1/256,000, with a male-to-female ratio of 1:1. (1) There are more than 200 Australians living with Gorlin Syndrome. Since it is a rare condition, each affected person or family can feel isolated, and depression may result; while lifespan is generally not shortened by Gorlin Syndrome, it often causes severe morbidity. Thus, peer - support groups can play a valuable role in overall patient care. We ask you to inform patients about the opportunities for peer - support (see below), as well as keeping Gorlin Syndrome in mind, as you examine patients; are they presenting with one or more BCC early in life, despite having skin that is not very “weathered”;are there numerous skin tags or discoloured patches; are their facial features “coarse”, or their eyes a little too far apart? There may be only a few of these signs:
“Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies). Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm) are most commonly located on the face, back and chest. The number of BCCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull) are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death.” (1)
A common feature, which may be detected by dermatologists:
“Palmar/plantar pits (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.” (3) These small “pits” develop because the stratum corneum of the epithelium is greatly - reduced within these small lesions. Histologically, their bases resemble BCCs, but they seldom require treatment. They accumulate with age. Commonly in this syndrome, BCCs in other sites (in “thin skin”), which may resemble moles, naevi, skin tags, haemangiomas or sebaceous hyperplasia, will remain small and static for years (the “naevoid”stage of BCCs in this syndrome) before possibly entering a phase of rapid growth, necessitating prompt treatment. (4)
Identification of patients with Gorlin Syndrome allows their medical professionals to optimise their health, by arranging for regular screening for the complications of this syndrome, for which prompt treatment is desirable. It is important that exposure to carcinogens such as UV and ionising radiation is minimised, and vitamin D supplements are taken. Please recommend genetic counselling.
Treatment options are increasing, and may soon include drugs that act directly on the Sonic Hedgehog Signalling Pathway; some drug trials are now under-way. Some patients with Gorlin Syndrome may wish to participate in drug trials conducted by oncologists in cancer clinics. A new website has been established for people with rare conditions who want to register their interest in participating in research into their condition; www.cart-wheel.org. In Australia, cancer clinics, Familial Cancer Clinics and genetics clinics can provide information about new drug trials as well as prevention and treatment strategies.
Readily - accessible sources of peer support and further information for patients include:
- Australian Google - Group: “Australian Gorlin Syndrome Mutual Support Group”. Australian members exchange information and peer support by email, and some meet in person. CONTACTS: Anna Hickey annahickey43@gmail.com (administrator of the Mutual Support Group) and Julie Hagedorn augusta222@hotmail.com (author of this document).
- Facebook users may prefer: “Gorlin Syndrome In And Beyond Australia” on http://www.facebook.com/editgroup.php?gid=185930284769716&sk=information
- Peer support on the online “patient forum” of http://www.gorlinsyndrome.org/ (US Group).
- Educational Articles at the BCCNS Life Support Network can be viewed at: http://www.gorlinsyndrome.org/educational-documents.aspx Many are prints of papers in medical journals, such as papers by the late Dr Robert Gorlin, for whom this syndrome was named. Their newsletter “Quarterly Advocate” may be read online.
- Gorlin Syndrome Group www.gorlingroup.org and info@gorlingroup.org (UK Group)
REFERENCES (and online sources where full copies may be viewed):
- Nevoid basal cell carcinoma syndrome (Gorlin syndrome)Lorenzo Lo MuzioOrphanet Journal of Rare Diseases 2008, 3:32doi:10.1186/1750-1172-3-32The electronic version of this article is the complete one and can be found online at: http://www.ojrd.com/content/3/1/32
- Online Mendelian Inheritance In ManMIM ID #109400; BASAL CELL NEVUS SYNDROME; BCNS
- Nevoid Basal Cell Carcinoma SyndromeGorlin Syndrome, Basal Cell Nevus Syndrome (BCNS), NBCCSD Gareth Evans, MD, FRCP, Peter A Farndon, MD, FRCP
- Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). Mar 1987; 66 (2): 98-113. See the “General” category in: http://www.gorlinsyndrome.org/educational-documents.aspx
Very well done, Julie - an amazing effort, and potentially very valuable.
ReplyDeleteThanks, Bill.
ReplyDeleteAs you are a scientist, I esteem your feedback very highly.
ReplyDeleteThe blog and data is excellent and informative as well.
ReplyDeleteDermatologist Marietta