Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort

Abstract

Background: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. Objective: To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. Methods: We analyzed patient characteristics and clinical manifestations in a register of 30 NBCCS patients in Zurich, Switzerland. We compared our findings to the results of 4 epidemiological studies performed in America, Australia, Japan and the UK. Results: We obtained information concerning basal cell carcinomas (BCCs) and jaw cysts from 28 patients out of our population of 30 NBCCS patients. The mean age at onset of the first BCC was 24 years, and the mean age at diagnosis of the first jaw cyst was 15.6 years. The average number of jaw cysts was 8.4; the average number of BCCs was 207. 72.5% of the examined BCCs showed a nodular histology, but we also found scirrhous and superficial types. Conclusion: The disease burden associated with NBCCS diagnosed in Swiss patients is significant and comparable to that of other countries. Regular skin examination and oromaxillary examinations should be performed early in diagnosis, and patients should undergo early UV protection. Nodular BCC is the most common BCC subtype in this patient population.

Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines

“…Skin examination should be carried out every 4 to 6 months. Besides regular skin examination, a number of additional imaging investigations are recommended for associated extra-cutaneous abnormalities [137]. In particular, a study suggests that childhood brain magnetic resonance imaging surveillance for the risk of medulloblastoma is justified in SUFU-related, but not PTCH1-related, Gorlin syndrome [138].…”

S2k Guidelines for Cutaneous Basal Cell Carcinoma – Part 1: Epidemiology, Genetics and Diagnosis

“…In case of a positive family history or fi ndings suggestive of basal cell carcinoma syndrome, regular skin cancer screening and adequate sun protection should be initiated early in life, even if the diagnosis has not been confi rmed. It should also be noted that exposure of affected patients to ionizing radiation should be minimized as much as possible; if in doubt, it is preferable to use MRI [ 26 ] .…”

Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease

“…In addition, TP53 mutations are present in ~40% of Gorlin BCCs, similar to sporadic tumors ( Chiang et al, 2018 ). Finally, Gorlin BCCs can manifest a variety of histologic subtypes ( Rehefeldt-Erne et al, 2016 ), and Gorlin patients can also develop basaloid follicular hamartoma (BFH), a benign hair follicle tumor ( Besagni et al, 2021 ; Chikeka et al, 2021 ; Ponti et al, 2018 ; Requena and Sangueza, 2017 ). While the connection between BFH and BCC remains unclear, some have speculated that these neoplasms are variations of the same disease ( Ponti et al, 2018 ).…”