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Updated: Oct 18, 2025
Cell Population Analyses During Skin Carcinogenesis
Published on: August 21, 2013
Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization
Nina B Gold1, Ian M Campbell2,3, Sarah E Sheppard4
1Division of Medical Genetics and Metabolism, Harvard Medical School, Massachusetts General Hospital for Children, 55 Fruit Street, Boston, MA, 02114, USA. ngold@partners.org.
Insights
New criteria can help detect Nevoid Basal Cell Carcinoma Syndrome (NBCCS) earlier in children. This tumor predisposition condition
Area of Science:
- Genetics
- Oncology
- Pediatrics
Background:
- Nevoid basal cell carcinoma syndrome (NBCCS) is a genetic disorder with features typically appearing in adolescence or adulthood.
- Current diagnostic criteria for NBCCS may lack sensitivity in pediatric populations, leading to delayed diagnosis.
- Early identification of NBCCS is crucial for timely surveillance and prevention of associated complications.
Purpose of the Study:
- To develop and validate revised diagnostic criteria for NBCCS with enhanced sensitivity in individuals under 18 years of age.
- To identify early-onset clinical features indicative of NBCCS in children.
- To quantitatively assess the diagnostic utility of existing and proposed NBCCS criteria.
Main Methods:
- A survey collecting medical history from individuals with NBCCS was conducted.
- A Bernoulli naïve Bayes classifier, utilizing human phenotype ontology, was employed to propose new criteria.
- Statistical optimization and retrospective analysis were used to assess the sensitivity and specificity of diagnostic criteria.
Main Results:
- Participants reported initial NBCCS signs at a median age of 8 months.
- Retrospective analysis indicated that current diagnostic criteria were met at a median age of 7 years.
- The study proposes revised criteria for earlier suspicion of NBCCS in children.
Conclusions:
- The proposed NBCCS criteria demonstrate improved sensitivity for early detection in pediatric patients.
- Earlier identification of NBCCS through refined criteria can facilitate timely intervention and management.
- The study provides a quantitative method for evaluating diagnostic criteria in genetic disorders.
Abstract:
Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. A survey eliciting medical history was completed by, or on behalf of, individuals with NBCCS. Based on these findings, criteria for suspicion of NBCCS in children were suggested using information from a Bernoulli naïve Bayes classifier relying on the human phenotype ontology. The sensitivity and specificity of the existing and proposed diagnostic criteria were also assessed. Participants (n = 48) reported their first signs of NBCCS appeared at a median age of 8 months, but by our retrospective analysis, they did not fulfill the current diagnostic criteria until a median age of 7 years. This study delineates the early-onset features of NBCCS and proposes criteria that should prompt consideration of NBCCS. Additionally, we demonstrate a method for quantitatively assessing the utility of diagnostic criteria for genetic disorders.
