Inheritance: autosomal dominant with variable penetrance
Chromosome: 10q23
Gene affected: PTEN (MMAC1, DEP1), which is a tumor suppressor gene
The affected patient often presents as a young adult.
Clinical findings:
(1) multiple trichilemmomas, acral keratoses and papillomatous papules of the skin
(2) multiple colonic hamartomatous polyps
(3) goiter and benign tumors of the thyroid gland
(4) fibrocystic disease of the breast with or without fibroadenomas
(5) uterine leimomyomas in women
(6) macrocephaly (megaloencephaly) and/or mental retardation
(7) oral papillomas
Complications:
(1) thyroid carcinoma
(2) carcinomas of the breast and/or uterus
