Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS)

Abstract

The first international colloquium on basal cell nevus syndrome (BCNS) was held at Saint Louis University School of Medicine and supported by the Basal Cell Carcinoma Nevus Syndrome (BCCNS) Life Support Network (www.gorlinsyndrome.org). The foremost goal of the conference was to review and revise the prior diagnostic criteria and define the surveillance recommendations for affected pediatric and adult patients to allow for early intervention. The invited consensus group participants included geneticists, dermatologists, orthopedists, neurologists, and dental/oral medicine specialists, who treat patients with BCNS or related disorders. This group also included individuals who have a research interest in BCNS and who additionally serve on the medical advisory board of the BCCNS Life Support Network. Expert opinion was based on the collective clinical and research experience of the consensus group participants after presentation and review of the previously published literature regarding diagnosis and treatment of BCNS. A consensus was achieved and agreed upon by open roundtable discussion of the group participants. The consensus statement outlines the proposed diagnostic and management protocols that will hopefully limit morbidity and mortality for affected individuals until more specific and targeted therapies are widely available.

Multiple Orthokeratinized Odontogenic Cysts: A Case Report

“…NBCCS (Gorlin syndrome) is an autosomal-dominantly inherited syndrome characterized by several major clinical features including multiple basal cell carcinomas (BCCs), multiple OKCs, palmar or plantar pitting, and intracranial calcification [5,6]. The causative mutations have been found to be in the sonic hedgehog pathway, including PTCH1 [22,23], PTCH2 [24], and SUFU [25], with PTCH1 mutation being found in 60-75 % of NBCCS patients [6,26].…”

“…The causative mutations have been found to be in the sonic hedgehog pathway, including PTCH1 [22,23], PTCH2 [24], and SUFU [25], with PTCH1 mutation being found in 60-75 % of NBCCS patients [6,26]. Although it is a genetic disease, about 35-50 % of affected patients represent new mutations [5].…”

“…We compared the clinical features of this case with the recently published diagnostic criteria for NBCCS, proposed by the First International Colloquium on NBCCS in 2011 [6], as listed in Table 1. In this set of diagnostic criteria, the clinical and molecular findings are categorized into major and minor criteria, and a diagnosis of NBCCS should be considered if the patient shows: (1) one major criteria and molecular confirmation; (2) two major criteria; or (3) one major and two minor criteria [6]. Based on the available clinical information, this patient does not have any clinical features that fit any of the major or minor criteria.…”

“…To the best of our knowledge, this is the first case report of a patient with multiple OOCs. Of further note is the fact that loss of heterozygosity of the PTCH gene, the gene that was found to be mutated in 60-75 % of NBCCS patients [6], was recently found in both sporadic OKC cases and sporadic OOC cases [7]. This knowledge naturally gives rise to a strong interest in whether a patient with multiple OOCs might also be a NBCCS patient.…”

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

“…Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al, 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al [2011] recently reported an incidence of 1 in 19,000 births.NBCCS is clinically diagnosed in patients with one major diagnostic criterion and molecular confirmation or two major criteria or one major and two minor diagnostic criteria [Bree et al, 2011]. The major criteria are the following: (1) BCC before the age of 20 or excessive numbers of BBCs out of proportion to prior sun exposure and skin type, (2) odontogenic jaw keratocyst prior to 20 years of age, (3) palmar or plantar pitting, (4) lamellar calcification of the falx cerebri, (5) medulloblastoma typically desmoplastic, and (6) first-degree relative with NBCCS.…”