COPENHAGEN – A glimpse into the massive burden imposed upon patients with basal cell nevus syndrome (BCNS) is provided by the initial report from the first U.S. registry of patients affected with the disorder to include individuals who’ve tried the Hedgehog signaling pathway inhibitor vismodegib.
The first 94 patients (average age, 56 years) with BCNS to enroll in the prospective registry had a reported lifetime mean of 312 basal cell carcinomas (BCCs), Dr. Marieke Peters reported at the annual congress of the European Academy of Dermatology and Venereology.
The patients had an average of 36 new BCCs or other tumors in the previous 2 years, and 70% were categorized as having moderate to severe BCNS (also known as Gorlin syndrome), as defined by more than 10 new BCCs during that time period.
Most (94%) of tumors were on sun-exposed areas. Patients reported a lifetime mean of 202 surgical excisions, according to Dr. Peters of Catharina Hospital Eindhoven, the Netherlands.
The median age at diagnosis of BCNS was 15 years, and most patients were diagnosed clinically. Only 26% had undergone genetic testing for PTCH1. (The syndrome is caused by mutations in the PTCH1 gene). Sixty-two percent of subjects reported a family history of BCNS.
Other abnormalities associated with BCNS were common: Eighty percent of patients had jaw cysts, 82% had palmer pitting, 50% had various bone abnormalities, 21% reported ovarian fibromas, 4% reported medulloblastomas, and 4% had other tumors.
Fifty-seven percent of patients had tried vismodegib (Erivedge). However, only 15% were currently on the drug at enrollment; the rest had discontinued it, mainly because of side effects; less frequently because of loss of efficacy due to the development of new mutations. The chief side effects were nausea, vomiting, and diarrhea; less frequent side effects were weight loss, fatigue, muscle cramps, and alopecia, according to the dermatologist.
Gorlin syndrome is a rare autosomal dominant disorder caused mainly by mutations in the PTCH1 gene. The U.S. registry is directed by investigators at Children’s Hospital Oakland Research Institute and Stanford (Calif.) University.
The patient questionnaire used in the BCNS registry is available at https://redcap.stanford.edu/surveys/?s=7MWW9E37ND. For more information about the registry, contact Dr. Ervin Epstein, at eepstein@chori.org.
Dr. Peters reported having no financial conflicts regarding her report. At the time of the EADV meeting, she was a dermatology resident at the Academic Medical Center, Amsterdam.
*This story was updated 12/15/2015.