Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average.

• Publication year

  2018

• Venue

  Definitions

• Publication date

  2018-03-29

• Fields of study

  Medicine

• Identifiers
  DOI 10.1007/978-3-540-69000-9_101196
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

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  2019cited by this paper
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  2018cited by this paper
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  2017cited by this paper
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  2017cited by this paper
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  2017cited by this paper
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  2016cited by this paper
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  2015cited by this paper
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  2015cited by this paper
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  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
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  2014cited by this paper
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  2013cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2012cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2011cited by this paper
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  2010cited by this paper
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  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
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  2006cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2005cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2004cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2003cited by this paper
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  2002cited by this paper
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  2002cited by this paper
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  2001cited by this paper
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  2001cited by this paper
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  2000cited by this paper
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  2000cited by this paper
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  1999cited by this paper
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  1997cited by this paper
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  1997cited by this paper
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  1996cited by this paper
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  1995cited by this paper
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  1994cited by this paper
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  1993cited by this paper
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  1992cited by this paper
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  1983cited by this paper
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  1977cited by this paper
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  1977cited by this paper
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  1970cited by this paper
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  1960cited by this paper
• Temporal Lobe Epilepsy

  1959cited by this paper

• Pathology of Melanoma and Skin Carcinomas

  2021cites this paper
• Multiple Nevi in a 6-year-old Boy.

  2020cites this paper
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  2020cites this paper
• Epidemiology and Risk Factors of Basal Cell Carcinoma

  2019cites this paper