Table 5 List of other syndromes where hamartomatous polyps are frequent
| Â | Clinical hallmarks | Gene | Cancer |
|---|---|---|---|
Gorlin syndrome | Keratocysts of the jaw, hyperkeratosis of palm and soles, basal cell carcinomas, skeleton abnormalities, macrocephaly, frontal bossing | PTCH1 | Basal cell carcinomas, medullablastoma |
Multiple endocrine neoplasia type 2B | Mucosal neuromas of the lips an tongue, medullated corneal nerve fibers, distinctive facies with enlarged lips and tongue, an asthenic “marfarnoid habitus, and medullary thyroid cancer. | RET | Medullary thyroid cancer, pheochromocytoma |
Neurofibromatosis type 1 | Café au lait spots, axillary and inguinal freckling, and neurofibromas. | NF1 | Optic gliomas, malignant peripherical nerve sheath tumours, breast |
Birt-Hogg-Dubé | Skin fibrofolliculomas, spontaneous pneumothorax | FLCN | Renal |