Version June 2024
| Inheritance/ pathogenesis | Key clinical features | |
| Basal Cell Nevus Syndrome (Nevoid Basal Cell Carcinoma Syndrome, Gorlin Syndrome) | Autosomal dominant | Multiple basal cell carcinomas. Other features include odontogenic cysts of the jaw, palmoplantar pits, bifid ribs and other skeletal abnormalities. Common CNS abnormalites include calcification of the falx cerebri and bridging of the sella turcica. Extracutaneous tumors, including medulloblastomas, meningiomas, and ovarian fibrosarcomas, are also associated with the syndrome. |
| Mutation of the tumor suppressor gene patched (PTC) | ||
| Gardner Syndrome | Autosomal dominant | Triad of familial adenomatous polyposis, benign osteomas, and skin and soft tissue tumors. Multiple epidermoid cysts are the most characteristic skin finding. Desmoid tumors may also be seen. Congenital hypertrophy of the retinal pigmented epithelium is a reliable and early marker of disease. Colon cancer develops in all affected individuals requiring prophylactic colectomy. |
| Mutation of tumor suppressor gene APC | ||
| Peutz-Jegher Syndrome | Autosomal dominant | Dark periorificial and acral freckling most markedly on the lips; patients develop hamartomatous polyps of GI tract which may give rise to cancer. Also associated with increased risk of early adenocarcinomas of the breast, cervix, pancreas, uterus and ovaries. |
| Mutation of tumor suppressor gene STK11 | ||
| Xeroderma Pigmentosa | Autosomal recessive | Increased photosensitivity, development of cutaneous malignancies in early childhood. Associated ocular and neurologic abnormalities. |
| Defective excision repair of UV-induced DNA damage | ||
| Epidermolysis bullosa (EB) syndromes | ||
| Dowling Meara EB simplex | Autosomal dominant | Presents at birth or in early infancy; bullae occur with mild trauma, but lesions heal without scarring; mild or no mucosal involvement. Increased risk of basal cell carcinoma during mid-adulthood. |
| Mutation of keratin 5 or keratin 14 gene | ||
| Herlitz junctional EB | Autosomal recessive | Onset at birth with widespread bullae and erosions with nonhealing granulation tissue; absent nails, dysplastic teeth, oral lesions. Increased risk of squamous cell carcinoma beginning in adolescence. |
| Mutations in the laminin alpha-3, beta-3, or gamma-2 gene | ||
| Hallopeau-Siemens recessive dystrophic EB | Autosomal recessive | Onset at birth; generalized bullae that heal with extensive scarring; repeated episodes may lead to contraction flexures at the knees and elbows and fusion of the digits; frequent involvement of the mucous membranes. Increased risk of malignant melanoma beginning in childhood and squamous cell carcinoma beginning in adolescence. |
| Mutation in the collagen type VII alpha-1 gene | ||
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