dealing

Soooo after nearly a year of harassment and urging from my sister I finally went onto the Basal Cell Carcinoma Nevus Syndrome website http://www.bccns.org/index.htm which has tons of forums, discussions, links, etc. For those who aren't aware of what my syndrome is here's a quick synopsis:

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is also known as Gorlin Syndrome. Gorlin-Goltz Syndrome, and Basal Cell Nevus Syndrome (BCNS). It is an autosomal dominant disorder, which basically means that if only one parent has the gene the consequent children have a 50-50 chance of also having the gene (we don't know of anyone in my family with it so I'm an anomaly). Patients with the syndrome are predisposed to cancer, especially multiple Basal Cell Carcinomas, and congenital malformations (I have all of these). The specific gene is 9q22.3-q31. The rate of prevalence is about 1 in 64,000 people. Diagnosis is primarily made by identifying two major features; Jaw Cysts (odontogenetic keratocysts) (GOT THEM), multiple basal cell carcinomas (at an early age) (GOT IT, DIAGNOSED AT AGE 8), palmar pits (GOT THEM), and a family history of the syndrome (NOT THAT WE KNOW OF).

Approximately 80% of the patients are effected by the jaw cysts, which tend to grow rapidly, and also have a high recurrence rate (TRUE STORY). They can involve both the mandible (66%), and the maxilla (34%). Generally the cysts first appear before the age of 10.

The basal cell carcinomas appear before the age of 35 (early), and can number between a few & several thousand – mostly on the face & upper trunk (YUP). A small number of these may show aggressive behavior. 90% of Caucasians and 40% of African Americans get this symptom. Both races can exhibit the other symptoms equally.

Other skin features include; palmar and/or planter pits, epidermoid cysts, chalazia, comedones, palmar & plantar keratosis, and dermal calcinosis.

The central nervous system symptoms can include calcification of the falx, Medulloblastomas, astrocytomas, and mental retardation. Splayed, cervical, or bifid ribs also are evident in most cases. Ocular symptoms can include; cataracts, corneal opacities, and glaucoma. Ovarian fibromas may also be present (in females. Ovarian fibromas are the most common solid primary tumors of the ovary but are often found incidentally in the perimenopausal period.(INTERESTING ESPECIALLY GIVEN MY OVARIAN CYSTS AND LOSING MY LEFT OVARY).


I admittedly have avoided this site for a very long time b/c I don't want to learn of all the horror stories and things that will likely happen to me down the road, such as ovarian cancer and breast cancer which given my syndrome and family history is pretty much a given for me, but as terrifying as it was I have learned many new things and treatments, etc. Because of the way our health care system is going I barely ever get any time with my dermatologist, it's very in, inject, burn char, cover, out the door. I have ALOT of questions that I've been afraid to ask and/or not known to ask because I've kept myself in the dark as much as possible (aside from things I already have heard about but was not aware of their prevalence, etc.) and somewhat in denial about the many facets of my syndrome for a long time. As scary and upsetting as it is for me I have made a promise to myself to get involved with this online community of people who they themselves, or loved ones suffer from this syndrome. I am not going to live in denial any longer and I'm taking action and ownership in making sure I'm doing everything possible to reduce my chances of the many fatal and/or catastrophic traits of this fucking disease. Here's some interesting findings I discovered while perusing today. Feel free to read, or not. I put them on here for me and my reference.



Marsupialization or Decompression: go in to surgery under a general anesthesia. They would drill a hole into the cyst, and leave a drainage hole. This would decompress the cyst, which could stop the growth. They grow because of the pressure inside of them, and when you relieve the pressure, they should stop growing. You would have to irrigate the hole repeatedly, but it should be painless. This prevents patients from having to have very large cysts removed and/or losing major teeth and/or bone.



-The use of angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) was associated with a reduced risk of basal cell or squamous cell skin cancers in U.S. veterans, researchers report in the August 26 online issue of the Journal of the National Cancer Institute. ACE inhibitors and ARBs are frequently prescribed medications for the treatment of high blood pressure. Data from in vitro cell studies and animal models suggest these drugs may slow tumor growth and inhibit angiogenesis. Additionally, some epidemiological studies in humans suggest that ACE inhibitors and ARBs may reduce the risk of nonmelanoma skin cancers. Pharmacologic retinoid signaling and physiologic retinoic acid receptor signaling inhibit basal cell carcinoma tumorigenesis.
So PL, Fujimoto MA, Epstein EH Jr.



Children's Hospital Oakland Research Institute, 5700 Martin Luther King Jr. Way, Oakland, CA 94609, USA. pso@chori.org

Basal cell carcinoma (BCC) is the most common human cancer. Patients with basal cell nevus syndrome (Gorlin syndrome) are highly susceptible to developing many BCCs as a result of a constitutive inactivating mutation in one allele of PATCHED 1, which encodes a tumor suppressor that is a major inhibitor of Hedgehog signaling. Dysregulated Hedgehog signaling is a common feature of both hereditary and sporadic BCCs. Recently, we showed remarkable anti-BCC chemopreventive efficacy of tazarotene, a retinoid with retinoic acid receptor (RAR) beta/gamma specificity, in Ptch1+/- mice when treatment was commenced before carcinogenic insults. In this study, we assessed whether the effect of tazarotene against BCC carcinogenesis is sustained after its withdrawal and whether tazarotene is effective against preexisting microscopic BCC lesions. We found that BCCs did not reappear for at least 5 months after topical drug treatment was stopped and that already developed, microscopic BCCs were susceptible to tazarotene inhibition. In vitro, tazarotene inhibited a murine BCC keratinocyte cell line, ASZ001, suggesting that its effect in vivo is by direct action on the actual tumor cells. Down-regulation of Gli1, a target gene of Hedgehog signaling and up-regulation of CRABPII, a target gene of retinoid signaling, were observed with tazarotene treatment. Finally, we investigated the effects of topical applications of other retinoid-related compounds on BCC tumorigenesis in vivo. Tazarotene was the most effective of the preparations studied, and its effect most likely was mediated by RARgamma activation. Furthermore, inhibition of basal RAR signaling in the skin promoted BCC carcinogenesis, suggesting that endogenous RAR signaling restrains BCC growth.




Study says combination of exercise and caffeine can fight skin cancers
Provided by: The Canadian Press
Written by: RANDOLPH SCHMID
WASHINGTON (AP) - Can adding a cup or two of coffee to the exercise routine increase protection from skin cancer? New research indicates that just might be the case. The combination of exercise and caffeine increased destruction of precancerous cells that had been damaged by the sun's ultraviolet-B radiation, according to a team of researchers at Rutgers University.




http://www.hesmagazine.com/story.asp?sectioncode=196&storyCode=2046919
Technology to improve skin cancer treatment, 10 September 2007

A technique, which uses light therapy to pierce skin without the use of a needle, could improve skin cancer treatment. The needle-free injector uses photodynamic therapy to produce a high velocity liquid jet to pierce the skin. PhD student Desmond Morrow and his colleagues, from the Queen’s University’s School of Pharmacy in Belfast, found that compared to using a bio-adhesive patch, the jet injector increased the amount of drug that could be delivered through the skin. Photodynamic therapy is a relatively new form of skin cancer treatment which results in tumour death,’ said Morrow.