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International Birth Defects Information Systems
Basal Cell Carcinoma Nevus Syndrome

International Birth Defects Information Systems


Basal Cell Carcinoma Nevus Syndrome


Topics: | BCCNS | Nevoid Basil Cell Carcinoma | Gorlin | Gorlin-Goltz | PTCH-1 Gene Mutation |

Related Topics : | Neoplasia | Skin | Mucosa | Skull | Brain | Cardiac | Fibromas | Meningioma | Medulobalastoma |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

Languages: | English |

Advancing Awareness Brochure for Caregivers
BCCNS Support Network,
Visitor Comments Crisp description of signs and therapies
Basal Cell Carcinoma Nevus Syndrome (BCCNS, also ... (named) nevoid basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin-Goltz syndrome) results from a mutation of the PTCH-1 (Patched) tumor-suppression gene, which affects the Hedgehog Signaling Pathway ... present at birth ... often diagnosed later in life ... dominant genetic disorder ... no one symptom hits every affected individual ... The most common kind of skin cancer, and the most common symptom of BCCNS, basal cell carcinomas (BCCs) often form because of overexposure to sunlight ... Radiation therapy is a bad idea for people with BCCNS, because it will generally cause masses of BCCs to form a few months later. •Jaw Cysts ... called odontogenic keratocysts/OKCs) ... on the lower jaw ... people with BCCNS are more likely to develop tumors of all kinds. These can happen anywhere in the body, including the heart, stomach, ovaries, brain, intestines, muscles, and bone. Children with the disorder should be monitored regularly for medulloblastoma, a rare malignant brain tumor ... Palmar/Plantar Pits ... BCCNS tends to affect the formation of the skull ... larger heads than usual (macrocephaly), a prominent forehead or jawline, wide-set eyes, “glaring” eyebrows, and other eye troubles (strabismus, nystagmus, coloboma, etc.) Some children with BCCNS are born with a cleft lip or palate ... Skeletal Troubles ... kyphosis and scoliosis (improper curve of the spine), pectus (a sunken or protruding chest), syndactyly or polydactyly (fused or extra digits), Sprengel deformity (mis-aligned shoulder blades), and short metacarpals (bones in the hands) ... (20100427)

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Last Updated: 2010/04/27

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American Medical Association