Metastatic Basal cell carcinoma accompanying gorlin syndrome

Area of Science:

• Oncology
• Genetics
• Dermatology

Background:

• Gorlin-Goltz syndrome (basal cell nevus syndrome) is an autosomal dominant disorder.
• It is characterized by skeletal anomalies, jaw cysts, and multiple basal cell carcinomas.
• Basal cell carcinoma, typically slow-growing, can have an aggressive course when associated with Gorlin syndrome due to tumor suppressor gene mutations.

Purpose of the Study:

• To report a case of metastatic basal cell carcinoma in a patient with Gorlin-Goltz syndrome.
• To emphasize the aggressive presentation of basal cell carcinoma in this rare genetic context.
• To highlight the diagnostic challenges and clinical features associated with this syndrome.

Main Methods:

• Case report of a 66-year-old male with a history of basal cell carcinoma.
• Clinical examination revealing exophthalmus, hearing loss, dental, and palatal anomalies.
• CT scans identifying orbital, sinus, and pulmonary masses; biopsy confirmed ethmoid sinus basal cell carcinoma.

Main Results:

• The patient presented with aggressive, metastatic basal cell carcinoma.
• Radiological findings included falx cerebri calcification, bifid ribs, and odontogenic cysts, consistent with Gorlin syndrome.
• Biopsy confirmed basal cell carcinoma in the ethmoid sinus.

Conclusions:

• Gorlin-Goltz syndrome can lead to an aggressive course of basal cell carcinoma.
• Early recognition of clinical and radiological signs is crucial for diagnosing Gorlin syndrome.
• This case underscores the potential for significant morbidity and mortality when basal cell carcinoma occurs in the context of Gorlin syndrome.