Multiple Facial Papules and Macrocephaly—Quiz Case

Cowden syndrome: review and report of a case of late diagnosis

“… • papilloma: flat‐topped lichenoid papules of normal skin color that are distributed around the center of the face and tend to group around the eyes, nose, and mouth; these may also be found on the neck but not on other parts of the body; • facial trichilemmoma: verrucous papillomatous filiform lesions which tend to group around the ears, eyes, nose, and mouth; • flat‐topped hyperkeratotic papules resembling flat warts: these occur on the back of the hands but not on the dorsal surfaces of the feet; • palmoplantar keratosis punctata: translucent keratoses resembling arsenic keratoses that occur on the palms, feet, and lateral surfaces of the hands and feet; • multiple subcutaneous lipomas; • cutaneous angiomas; • papular lesions on the palate and gingiva, with diameters of 1–3 mm, which tend to coalesce and which appear to be of parallelepiped form; • papillomatous and verrucous lesions in the mucosa of the mouth, oropharynx, and larynx, and • a scrotal tongue 2,6,8,12 …”

“…Thyroid imaging, thyroid function examinations and complete blood cell count, urinalysis, Papanicolaou test, ultrasound and biopsy of the uterus, as well as investigations of the gastrointestinal tract and other tests according to signs and symptoms, should be performed to establish the diagnosis and should be repeated periodically as part of the follow‐up strategy (Tables 3–5). 8 …”

“…Its penetrance is related to age, and patients tend to have reached their late 20s before they present with mucocutaneous lesions 5,7 . Cowden syndrome is an indication of a predisposition for cancer and affects about one in 200,000 persons 8 . Most cases occur through germinal mutations in the gene located in the chromosomal region 10q23–31, described by the acronym “PTEN” (phosphatase and tensin homolog) 3 .…”

“…Most cases occur through germinal mutations in the gene located in the chromosomal region 10q23–31, described by the acronym “PTEN” (phosphatase and tensin homolog) 3 . This gene regulates the cycle, migration, and apoptosis of cells and thus affects the proliferation of tissues, such as the epidermis, oral and gastrointestinal mucosa, thyroid, and breasts 5,8–10 …”