Abstract
Nevoid basal cell carcinoma syndrome has as its hallmarks such diverse manifestations as numerous cutaneous basal cell cancers and epidermal cysts, palmar and plantar pits, keratocysts of the jaw, calcified dural folds, various skeletal anomalies, cleft lip and/or palate, and various other neoplasms or hamartomas. Inheritance is autosomal dominant. The etiology of all of the above findings appears to be a mutation in a tumor suppressor gene that also plays a role in normal embryonic development.
MeSH terms
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Adolescent
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Adult
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Basal Cell Nevus Syndrome / genetics*
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Basal Cell Nevus Syndrome / pathology
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Bone and Bones / abnormalities
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Child, Preschool
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Cleft Lip / genetics
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Cleft Lip / pathology
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Cleft Palate / genetics
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Cleft Palate / pathology
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Dura Mater / abnormalities
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Epidermal Cyst / genetics
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Epidermal Cyst / pathology
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Female
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Foot Dermatoses / genetics
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Foot Dermatoses / pathology
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Genes, Tumor Suppressor / genetics
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Hamartoma / genetics
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Hamartoma / pathology
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Hand Dermatoses / genetics
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Hand Dermatoses / pathology
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Humans
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Male
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Middle Aged
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Odontogenic Cysts / genetics
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Odontogenic Cysts / pathology
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Skin Diseases / genetics
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Skin Diseases / pathology
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Skin Neoplasms / genetics*
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Skin Neoplasms / pathology