Skin Cancer

Abstract

Basal cell nevus syndrome is a genetically linked multisystem disorder with a hallmark tendency for development of multiple basal cell carcinomas at a young age. It is associated with a multitude of other anomalies including keratocytes of the jaw, palmar or plantar pits, and ectopic intracranial calcifications. This disease is most commonly caused by loss of function in tumor suppressor gene PTCH1 resulting in overactivation of the Hedgehog pathway and basal cell carcinoma formation. Diagnosis is largely clinical; patients must meet criteria of both major and minor categories. Genetic testing is warranted in specific situations where clinical diagnosis is unclear or for genetic counseling purposes. Given that basal cell carcinoma is a very common dermatologic disorder, it is important to recognize when it arises in the setting of genetically associated diseases. Early detection allows for proper management and surveillance of not only basal cell carcinomas but also the other multisystem effects of basal cell nevus syndrome. This review gives an in-depth overview of the etiology, pathogenesis, diagnosis, and management of basal cell nevus syndrome.

Attention to Quality of Life in Patients With Gorlin Syndrome

“…We were delighted to read the Flowers et al article that brings attention to recognition and care of patients with Gorlin syndrome (GS), or basal cell nevus syndrome, and write to expand on the impact of this diagnosis on the patient's quality of life as well as to increase awareness of clinical interventions that can have a significant impact on the health outcomes of these patients (Flowers et al, 2023). This topic is highlighted by several studies on quality of life and mental health in individuals with GS.…”