Cutaneous Signs and Syndromes Associated With Internal Malignancies

Claudia C. Ramirez, MD; Brian Berman, MD, PhD


Skinmed. 2005;4(2):84-92. 

In This Article

Carcinoid Syndrome and Cowden's Disease (Multiple Hamartoma Syndrome)

Carcinoid syndrome most commonly (75% of patients) includes flushing of the face and trunk lasting from 10 to 30 minutes. Associated with the flushing are dyspnea, wheezing, abdominal pain with explosive diarrhea, right-sided heart valvular changes, and hypotension. Carcinoid tumors account for 0.1%-0.5% of all tumors[4] and in 90% of cases originates from the GI tract, with the appendix and ileum being the most common sites.[15] Carcinoid tumors represent 90% of appendiceal tumors. Other locations of the tumor are rectum, bronchi, ovary, pancreas, and gallbladder. Tumors from the GI tract do not cause symptoms until they metastasize to the liver, because an uninvolved liver can detoxify the amines responsible for the symptoms. In contrast, carcinoid tumors originating in locations other than the GI tract, such as ovary and bronchi, can produce symptoms before they metastasize.

Cowden's disease is an autosomal dominantly inherited condition that results in hamartomatous neoplasms of the skin, mucosa, GI tract, bones, central nervous system, and genitourinary tract. Mucocutaneous findings are almost always present and include multiple facial trichilemmomas located on the central face and perioral area, multiple papules on the buccal mucosa that coalesce having a cobblestone appearance, acral keratoses, and palmoplantar keratoses. Systemic manifestations include GI polyps, thyroid gland tumors, fibrocystic disease of the breast, and ovarian cysts.

Malignancy has been reported to be present in 40%-50% of patients with Cowden's disease, most commonly adenocarcinoma of the breast, which occurs in 20%-30% of women with Cowden's disease.[16] To a lesser degree, thyroid, colon, prostate, uterus, cervix, and bladder cancers are associated with Cowden's. Family members of patients with this syndrome should also be evaluated.