TREATMENTS
ABOUT TREATMENT
The Gorlin syndrome is a syndrome with variable expression, according to the people, that is to say, each person is not compulsory developed the same symptoms, making it difficult sondiagnostic.
Each symptom is treated on a case by case basis, wherever possible, by different specialists ...
In different chapters, I will try to list and illustrate a number of symptoms related consulted specialists, and different treatments that can be found worldwide.
1 / SUPPORT MULTI-DISCIPLINARY, orientation
2 / SYMPTOMS treatable AND OTHER TREATMENTS
the basal cell carcinoma (BCC) or skin tumor (most frequent symptoms)
What is basal cell carcinoma?
What are the risk factors?
Why do I quickly check in case of doubt?
I was diagnosed with a CBC: what will it happen?
How to reduce the risk of recurrence?
- Conventional surgery and laser surgery
- CRYOTHERAPY AND CRYOSURGERY
- Cream ALDARA
- The Photodynamic therapy (PDT)
- The vismodegib
3 / OTHER SYMPTOMS IN IMAGE
- The palmar pits
- palado cleft lip
1 / SUPPORT MULTI-DISCIPLINARY, orientation
Diagnosis of the syndrome ------------------> geneticist
Basocelullaires multiple carcinomas (BCC) ------------------> DERMATOLOGIST
Palmar pits
Méduloblastomes ------------------> NEUROLOGIST
Cysts or odontogenic keratocysts -------------------> STOMATOGUE
Skeletal abnormalities
Intracranial ectopic calcifications
Facial Dysmophie
- Macrocephaly
- Slot palato-labial or harelip
severe eye abnormalities ------------------------> OPHTHALMOLOGIST
unrest
- Eye ----------------> ophthalmologist
- Cardiovascular ------- ----------------> CARDIOLOGIST
- Uro-genital -----------------------> UROLOGIST / GYNAECOLOGIST MEN / WOMEN
deficite intelectuel (5% of patients) -----------------------> MDPH TYPE SCHOOLS SPECIALIZED
- I.M.E (medical educational institute)
- ITEP (Institute pedagogical and therapeutic
- CAT (Help center through work)
- Outbreak of life F.O (occupational fireplace)
- FAM (Home home medicalized)
2 / SYMPTOMS treatable AND OTHER TREATMENTS
the basal cell carcinoma (BCC) or skin tumor (most frequent symptoms)
Basal cell carcinoma (BCC), the most common skin cancer, is also the least dangerous if treated quickly. Growing on sun-exposed areas, the CBC generally do not metastasize and are permanently eliminated after a quick surgery.
What is basal cell carcinoma?
A CBC is a small tumor of the skin that can take many forms: red or glossy plate white scar, scab, wound that does not heal, or smooth button. The latter form, called nodular CBC, is the most common.
If you are making a sustained these injuries, see a dermatologist who can confirm the diagnosis after biopsy or will immediately complete ablation if the lesion is small.
Frequent around fifty, the CBC are often located on areas of the body exposed to the sun: the nose, cheeks, forehead, temples, scalp in the case of baldness, neck ...
What are the risk factors?
The skin cancers are favored by repeated exposure to ultraviolet radiation emitted by the sun or a UV lamp. The risks are increased when exposure is repeated, especially during childhood. If your skin is particularly sensitive to sunlight (very light skin, blond or red hair, freckles and light eyes are all signs of a strong sensitivity), be even more vigilant.
Other factors also influence the appearance of a CBC: immunosuppression (due to a heart or kidney transplant, for example), burn scars or favorable genetic background.
Why do I quickly check in case of doubt?
Sooner the diagnosis, the treatment will be more effective. The CBC treated early definitively cured in 90% of cases, usually with no ill effects.
The CBC almost never produce metastases, but if allowed to grow without treatment, they can invade the tissue located under the skin (muscle, bone or similar body). These dramatic changes are fortunately rare.
I was diagnosed with a CBC: what will it happen?
Once the diagnosis is confirmed by biopsy, your dermatologist will consider treatment for the type of CBC and its stage of development.
In most cases, simple surgery under local anesthesia is sufficient. The dermatologist will remove the carcinoma, with a margin of a few millimeters to ensure that the entire tumor has been removed. The total ablation will subsequently confirmed by an analysis of the microscopic carcinoma. If this analysis indicates that the removal was complete, recurrence is exceptional. We can then talk about healing.
The operation is in most cases very simple, occurring in ambulatory (outpatient) under local anesthesia. If the CBC is too large, reconstructive surgery (skin graft) may be considered, sometimes several times, under general anesthesia. Before this type of heavier task, your dermatologist will explain its progress and answer your questions. As with any general anesthetic, you will also have a consultation with the anesthesiologist before surgery.
After treatment, you will be monitored regularly to screen for possible new damage. The frequency and type of monitoring (often a single clinic visit) will depend on the treatment you received
How to reduce the risk of recurrence?
If you have ever been treated for carcinoma, the risks of developing a new CBC are more important, especially if the first carcinoma was particularly extensive or localized on a high-risk area (nose, ears, mouth, etc.). You will need to be vigilant.
In addition to the consultations provided with your dermatologist, watch yourself your skin regularly. Watch for injuries that may occur, especially if they settle permanently. If you have a doubt about the nature of a scar, a stain, a button or a plate, tell your dermatologist.
z vouSoyez especially careful in the sun, limiting prolonged and repeated exposure. Avoid exposing you to the hottest hours, when the sun is at its zenith. Apply at least every two one sunscreen with a high protection factor (30 and 50). Even if you are already tanned, continuous protection.
If the CBC represent the vast majority of skin cancers, they are also the least dangerous. Other skin cancers such as melanoma and squamous cell or epidermoid carcinoma, can have much more serious health impacts. It is therefore important to quickly consult a specialist before any appearance of a suspicious lesion.
Conventional surgery and laser surgery
Surgical excision is the most used to remove a carcinoma baocellulaire method. There are two types of operations: classical excision and Mohs micrographic surgery. It gives excellent results in terms of recurrence because it relies on direct analysis of the tumor by microscopy to determine the edges and remove all of the cancerous tissue. The percentage of recurrence of CBC is only 1 to 3% with this method against 10% with conventional resection (van der Geer et al., 2009). The Mohs micrographic surgery helps preserve healthy tissue while eradicating the tumor and offering excellent results in health and aesthetics.
CRYOTHERAPY AND CRYOSURGERY
February 13, 2012, The cold, like other physical agents, can be used in local therapy. Its action on a given tissue is based on the terms of refrigeration if slow freezing leads to the preservation of the tissue (this is the principle of conservation of cells), a sudden drop in temperature leads to its destruction.
Cryotherapy and cryosurgery are defined as the destruction by the cold of a given target volume. But the terms of cryotherapy and cryosurgery should not be used interchangeably.
Cryotherapy, which is practiced blindly, does not require the total destruction of the target; it therefore relates to benign tumors.
Cryosurgery is a cryodestruction necessarily controlled: it is therefore aimed at pre-malignant and malignant lesions.
This distinction is based upon a correct understanding of their respective objectives will determine the quality and reliability of the result.
MODE OF ACTION
The destruction process is obtained by a very sudden freezing followed by slow warming during which the destructive action will continue. The destruction takes place by double crystallization process of tissue ischemia and water through vascular thrombosis. However the cryosensibilité varies from one cell to another. Melanocytes, more fragile, are destroyed to -3 ° C, explaining the depigmentation of scars; normal epidermal cells are destroyed to -30 ° C, -30 ° C and -50 ° C when they are abnormal; the dermal cells are resistant to cold, where a good quality of scars.
EQUIPMENT AND TECHNOLOGY
Cryogenic:
The most commonly used cryogen is liquid nitrogen, which makes it possible to reach a temperature of -25 ° C to -50 ° C in 30 seconds. It is the refrigerant.
Nitrous oxide is applied by means of sensors operating on the principle of the Joule-Thomson. This is the cryogen used to cryosurgery deep organs.
Cream ALDARA
Imiquimod cream is indicated for the topical treatment of:
- Small superficial basal cell carcinomas (BCC) in adults.
- Actinic keratoses clinically typical, non-hypertrophic, non-hyperkeratotic the face or scalp in immunocompetent adult patients when size or number of lesions limit the efficacy and / or acceptability of cryotherapy and if other topical treatments are against-or less appropriate.
The Photodynamic therapy (PDT)
Photodynamic therapy is a new technique in France that allows treating certain precancerous lesions but also some superficial skin cancers, combining an active substance and a light irradiation of peau.La photodynamic therapy is a new technique that allows in France treating certain precancerous lesions but also of some superficial skin cancers, by combining an active substance and a light irradiation of the skin.
Historically, it was the beginning of the 20th century that RAAB Oscar discovers the action of certain colors like orange acrinidine on Paramecium cultures exposed to sunlight.
His teacher, Professor Herrmann VON Tappeiner, the same effects found with methylene blue and sudan 3 (red Magdalene). He realizes it takes the presence of such substance and light to achieve a cytotoxic effect of cell destruction. It is also the presence of free oxygen. The term photodynamic effect and the concept of therapeutic use, type of photodynamic therapy, was created in 1904 in Germany.
The same year, the first clinical trials are carried out by the Munich Albert Jesionek dermatologist to treat skin cancer.
So it took a hundred years for the technique to be validated and photodynamic therapy becomes a routine technique.
Photodynamic therapy (PDT) does not cause skin cancer and the harmful action of precancerous or cancerous cells, never crosses the nuclear membrane. Many studies have shown no mutagenicity.
Among the photosensitizers used in dermatology, we have the 5-ala or acid-5-aminolevulinic delta, but also metyl-5-ala Metvix or marketed in many European countries by Galderma.
The light source used depends on the target to be achieved and, in dermatology, a red orange light is used with an absorption peak at 630 nanometers which allows a penetration of about 3 mm into the skin.
There needs to be a light source with a uniform intensity throughout the Treaty.
The indications for PDT
Indisputable studies conducted in many countries show a good indication for the actinic keratoses are premalignant lesions occurring mainly on light skin, but also the superficial basal cell carcinomas, sometimes difficult to be treated surgically.
Side effects
Some burning sensation and pain, particularly when treating the forehead and scalp. It may appear edema within two to three days after treatment, regressive crusts within days, sometimes blisters and itching.
It is advisable to protect from the sun in the eight days following such treatment.
The treatment procedure
After prior consultation for information, patients are received, after a péparation of the skin to reduce the visible scabs: the thicker lesions curetted by the practitioner and applying the photosensitizing preparation containing 5-methyl or ala -5-ala.
An occlusive dressing is then placed in dark place and the patient is seen within three to four hours after the first application of cream.
The skin area is illuminated with specific red orange light for an average of fifteen to twenty minutes. (Waldmann PDT lamp 1200)
Very quickly, there appears a sunburn impression may extend within twenty four to forty eight hours.
Patients are usually reviewed in the months to control.
A two treatments may be required depending on the importance of the phenomenon linked to actinic sun.
Photodynamic therapy is a new vision of superficial precancerous and cancerous lesions of the skin by treating a whole cutaneous field and not only of the lesion in question.
It is a medical treatment that provides a very favorable cosmetic result without scarring.
However, and this regardless of the procedure, it is advisable to carry out further clinical tests to detect other lesions that might occur in other parts of corps.Depuis nearly ten years, photodynamic therapy (PTD) sees his indications expand and can treat some basal cell carcinomas (BCC), single or multiple, with good results and without scarring
.With This relatively new technique, developed by dermatologists and still too little known to our services; it has its place in addition to surgery in Gorlin syndrome
The vismodegib
The Vimodegib / Erivedge is a treatment used reserved for patients with locally advanced BCC or metastatic not under treatment with surgery or radiotherapy. The implementation of this treatment is to be decided at a scheduled consultation meeting (RCP). The main advantage of drug therapy at this stage of CBC is to reduce the tumor volume to allow the patient access to surgery, which alone can have a healing purpose. This aspect has not been evaluated in the development of vismodegib. Composed of a new antineoplastic active ingredient, the vismodegib, Erivedge 150 mg hard capsules is indicated for the treatment of advanced basal cell carcinoma. Its availability to the current hospital is accompanied by a pregnancy prevention program because qu'ERIVEDGE is teratogenic.
Marketed in France and available at the hospital since October 11, 2013, Erivedge 150 mg capsule is a new drug indicated aninéoplasique in treating adult patients with:
symptomatic metastatic basal cell carcinoma;
carcinoma locally advanced basal cell for which surgery or radiation therapy are not appropriate.
Erivedge consists of a new active ingredient, vismodegib, whose mechanism of action is based on inhibitory action of the Hedgehog pathway.
in practice
Erivedge should only be prescribed by or under the supervision of an experienced specialist in the management of the authorized indication (see the conditions for prescribing and dispensing in the "administrative Identity" in Item feet and in the monograph Vidal of Erivedge).
The recommended dose is one 150 mg capsule, once a day.
The capsule should be swallowed whole with water, with or without food.
It should not be opened to avoid involuntary exposure of patients and health professionals.
If a dose is missed, patients should be advised not to take the missed dose, but resume at the next scheduled dose.
In clinical trials, treatment with Erivedge was continued until disease progression or unacceptable toxicity. Treatment interruptions of up to four weeks were allowed based on individual tolerability.
The further processing of profit must be evaluated regularly, the optimal duration of treatment being variable from one patient to another.
THE medulloblastoma
20140721 cerebellum
First brain malignancy in children, medulloblastoma is a cancer with high metastatic potential whose support is mainly based on surgery with radiotherapy or chemotherapy. Disease and even treatment, may cause neurocognitive sequelae disabling and hormonal
3 / OTHER SYMPTOMS IN IMAGE
The palmar pits
palado cleft lip
BEFORE AND AFTER OPERATION
