Abstract
Basal cell nevus syndrome, also known as Gorlin syndrome, is a hereditary cancer syndrome associated with multiple basal cell carcinomas, congenital defects, and nondermatologic tumors. This disease is autosomal dominant with variable expressivity and is caused by abnormalities in the sonic hedgehog signaling pathway. Management requires a multidisciplinary approach and should include the biopsychosocial needs of patients and their families. Genetic testing is necessary to confirm an unclear diagnosis, evaluate at-risk relatives, and assist with family planning.
Copyright © 2020 Elsevier Inc. All rights reserved.
MeSH terms
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Adult
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Basal Cell Nevus Syndrome / diagnosis
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Basal Cell Nevus Syndrome / genetics*
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Basal Cell Nevus Syndrome / pathology
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Basal Cell Nevus Syndrome / therapy*
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Female
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Genetic Testing
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Hedgehog Proteins / genetics
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Hedgehog Proteins / metabolism
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Humans
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Interdisciplinary Communication
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Molecular Targeted Therapy*
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Neoplastic Syndromes, Hereditary / diagnosis
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Neoplastic Syndromes, Hereditary / genetics*
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Neoplastic Syndromes, Hereditary / pathology
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Neoplastic Syndromes, Hereditary / therapy*
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Patched-1 Receptor / genetics
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Patched-1 Receptor / metabolism
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Patched-2 Receptor / genetics
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Patched-2 Receptor / metabolism
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Patient Care Team
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Repressor Proteins / genetics
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Repressor Proteins / metabolism
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Signal Transduction / genetics
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Skin / pathology
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Young Adult
Substances
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Hedgehog Proteins
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PTCH1 protein, human
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PTCH2 protein, human
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Patched-1 Receptor
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Patched-2 Receptor
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Repressor Proteins
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SUFU protein, human