Skip to main content
. 2014 Jul 15;9:101. doi: 10.1186/1750-1172-9-101

Table 5.

List of other syndromes where hamartomatous polyps are frequent

  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