DISCUSIÓN

Gorlin-Goltz Syndrome. A 7 cases serie

Síndrome de Gorlin-Goltz: serie de 7 casos

José Luis López-Estebaranz

Dermatólogo. Práctica privada. Madrid. España

The nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz Syndrome is a rare autosomal dominant disorder with complete penetrance but variable expressivity. Its phenotype is characterized by the presence of anomalies in development and postnatal tumors. The alterations that are considered traditionally characteristic of the syndrome are the presence of epitheliomas or basal cell carcinomas, multiple mandible keratocysts and palmar and plantar pits. In addition to the diverse skeletal alterations, medulloblastomas and meningiomas are tumors that are associated in a much smaller percentage. NBCCS is caused by mutations in the suppressor gene PATCHED1 (PTCH 1) which is the human gene homologous human to the PATCHED gene of the Drosophila that maps the arm9q chromosome. As many as 50% of the cases are caused by new mutations.

The authors collect 7 cases of this rare syndrome and describe their clinical characteristics and therapeutic treatment. It deals with an entity whose pathologies affect multiple organs and therefore should be handled in a multidisciplinary fashion (maxillofacial surgeons, dermatologists, traumatologists, etc.).

Basal cell carcinomas, as we see in this series, are the most common clinical manifestation. Practically 100% of patients develop them throughout their life. They are tumors that appear early in life (generally between the ages of 20-30), are progressive and multiple tumors appear at the same time. They tend to appear in areas that are exposed to ultraviolet radiation (head and neck) and are more common in patients with light skin types (fair skin). Many of these small lesions are erthematous and are often clinically confused with "nevica" lesions, which is where the name nevoid basal cell comes from. These tumors are most prevalent in Caucasians. In Asian populations they are much less frequent.

Basal cell carcinomas treatment can include surgical and non surgical methods. Methods used include: surgery, curettage, electro coagulation, micrographic Mohs surgery, laser therapy, 5flourouracilo, imiquimod, photodynamic therapy and radiotherapy. We should always choose the method with the lowest morbidity and maximum effectiveness because the lesions are progressive multiple. We agree with the authors that surgical abscission is one of the principle treatment options for these tumors. Photodynamic therapy consists of topical application of photosensitive (levulinic methyl and others) and posterior radiation of the area with a specific light (630 mm). This allows for the treatment of multiple basal cell carcinomas in the same session which avoids unpleasant scarring and has high success rates. This therapy is a cutting edge option for these patients, especially in superficial and multicentric carcinomas (the most common among these patients). The superficial or multicentric topical use of 5% imiquimod is another treatment option preferred for basal cell carcinomas. This is an out patient treatment with high success rates and low morbidity (doesn't leave scars) which contributes to patients fulfillment.

When handling basal cell carcinomas in patients with NBCSS early diagnosis and periodic reviews are very important. We are going to need multiple treatments and because of this it is important to involve the patient and agree on the most appropriate treatment. As the authors mention, patients for with high basal cell carcinoma rates oral retinoid was used as a preventative treatment. However, due to the fact that the doses needed to be effective is high and causes significant side effects, its use today is limited. The major preventative precaution is to avoid exposure to sunlight, ultraviolet rays and to use adequate sunscreen. It is also recommended that radiotherapy treatment be avoided when treating these patients for neoplasias because there is always the possibility that basal cell carcinomas appear as a possible side effect in NBCSS patients.

Palmar and plantar pits are the second most common cutaneous manifestation in NBCSS patients. They consist of small defects in the cornea layer and they form in small hyperkeratosic punctiform zones. They are benign lesions that don't need treatment unless they are symptomatic. Their presence is a good marker of the illness even though they can also appear in people who are at chronic risk of arsenic and other pathologies.

Mandible and Maxilla keratocysts are commonly the first clinical manifestation of NBCSS. They are usually asymptomatic lesions that are radio logically diagnosed and require specific surgical approach.

NBCSS diagnosis is based on the simultaneous and early presence of anomalies that are not specific to patients with NBCSS. The intensity and severity of these lesions is also variable for each patient who has NBCSS, even within the same affected family, depending on the genetic expression and potentiate factors. Knowledge of all of the anomalies of this entity is fundamental to being able to have an early diagnosis and adequate follow up. Like the authors mention in their article, there is a series of major and minor criteria that helps diagnosis. Today performing genetic tests and determining PTCH gene mutations allows us to confirm clinical diagnosis, even though it is not positive in all cases. Finally, affected patients should get genetic advice. 50% of descendents of a NBCSS patient will develop the illness and it can be prenatally detected if the patient wishes.

References

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