As the personal history of early-onset thyroid disease (hemithyroidectomy for goiter with follicular adenoma at age 19, followed by follicular carcinoma at the age of 38 years), together with the presence of macrocephaly and consistent skin lesions (several flat verrucous lesions and keratoderma of the hands), was suspicious for PHTS, PTEN testing was undertaken and led to the molecular confirmation of PHTS. The gene discussed is PTEN; the disease is neoplasm.