Telehealth in a Pediatric Patient with Nevoid Basal Cell Carcinoma Syndrome

Abstract

During COVID19, telemedicine was adapted by many practices to serve patients with a variety of health conditions including those affected by cancer. Here we report an 11-year-old patient who went to her dentist where a routine panorama x-ray showed multiple jaw keratocysts.  Because jaw keratocysts can be identified with a hereditary predisposition to basal cell cancer and other tumors, she was referred for genetics.  

She was seen in 2021 where telehealth was the primary modality for visits. The hospital’s secure video platform was used to gather medical history and counsel the mother on genetic testing for nevoid basal cell carcinoma syndrome(NBCCS). While in the past genetic testing was often thousands of dollars, the genetic testing company offered a patient pay option of $250.

Two days later, the patient presented to the cancer center to have her blood drawn and a fifteen-minute physical exam was performed which identified macrocephaly, and palmar pits. Of note the mother asked about numerous pinpoint lesions around the patient’s ocular region.  

Genetic testing was positive for a pathogenic variant in PTCH1 c.454_455del.  The patient was referred to pediatric dermatology where over fifty basal cells were diagnosed and started treatment with imiquimod and efudex. She also was referred to cardiology and gynecology given reports of individuals with cardiac fibromas and gynecologic ovarian tumors.  The patient is now 14 going into her freshman year of high school and is doing well. This case highlights how telehealth offers a holistic approach to patient care.