Clinical Manifestations

Almost all patients with CS have characteristic mucocutaneous lesions that most often begin to appear in their second and third decades of life, although the age of onset of the skin signs varies from 4 to 75 years of age. The most frequently found cutaneous lesions are facial papules, which present as skin-colored or yellowish-tan verrucous papules that can resemble common warts and histologically reveal trichilemmomas or nonspecific hair follicle proliferations. These papules can be very numerous and can coalesce around facial orifices and ears (Fig. 1). The oral lesions present as 1 to 3 mm skin-colored papules, which can coalesce to form a characteristic cobblestone pattern (Fig. 2), or can be so extensive that they involve the entire oral cavity, including the tongue. Involvement of the mucosa is seen in over 80% of patients and usually follows the development of the facial lesions. Other cutaneous findings in CS include lipomas, hemangiomas, xanthomas, vitiligo, neuromas, cafe-au-lait spots, periorificial and acral lentigines, and acanthosis nigricans (2).

Although nearly every internal malignancy has been reported in association with CS, breast cancer is the most frequent and most serious complication, occurring in approximately 25% to 36% of female patients with CS. Men with germline PTEN mutations are also at risk of developing breast carcinomas. Fibrocystic disease of the breast and fibroadenomas is seen in 75% of women with CS.

Thyroid disease, including goiter, benign adenomas, fetal adenomas, thyroglossal duct cysts, and follicular adenocarcinoma, occurs in approximately two-thirds of patients

Other extracutaneous manifestations of CS include multiple hamartomatous polyps, which can be found anywhere in the gastrointestinal tract; benign ovarian cysts; leiomyomas of the uterus; and less frequently, teratomas, transitional cell carcinomas, and cervical cancer. Craniomegaly occurs in 80% of patients and is the most common skeletal manifestation of the disease. Ocular abnormalities are rare and include angioid streaks, cataracts, and myopia.

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