From the Research
Gorlin-Goltz syndrome, also known as Nevoid Basal Cell Carcinoma syndrome, is a rare genetic condition that requires a multidisciplinary approach for diagnosis and treatment, and early diagnosis is crucial to reduce the severity of long-term sequelae 1. The syndrome is characterized by multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities, and other developmental defects. Some key points to consider in the diagnosis and management of Gorlin-Goltz syndrome include:
- The condition is inherited in an autosomal dominant pattern, and patients often present with a variable expressiveness of symptoms 2.
- The diagnosis is based on major and minor clinical and radiologic criteria, and a careful approach is needed to avoid misdiagnosis or delayed diagnosis 3.
- Patients with Gorlin-Goltz syndrome are at risk of developing malignant tumors, including medulloblastoma, fibroma, and leiomyosarcoma, and radiation-induced basal cell carcinomas 1.
- Early diagnosis and treatment are essential to reduce the severity of long-term sequelae and improve the quality of life for patients with Gorlin-Goltz syndrome. It is essential to note that the name "Gorlin-Goltz" can be confused with "Goltz-Gorlin" syndrome, which is also known as Focal Dermal Hypoplasia syndrome, and it is crucial to use the correct terminology to avoid errors in diagnosis 4. In real-life clinical practice, a high index of suspicion and a multidisciplinary approach are necessary to diagnose and manage Gorlin-Goltz syndrome effectively, and to improve patient outcomes in terms of morbidity, mortality, and quality of life.