SANTA BARBARA, CALIF. — Sometimes, changes in skin appearance serve as the first marker of inherited internal disease.
Dr. Bruce H. Thiers highlighted common dermatologic signs associated with several of these syndromes:
▸ Cowden syndrome. This autosomal dominant syndrome is a marker for the eventual development of breast cancer and thyroid tumors. It is characterized by wartlike papules known as trichilemmomas. “They can occur anywhere, especially on the face,” said Dr. Thiers, of the department of dermatology and dermatologic surgery at the Medical University of South Carolina, Charleston.
“You can also see other benign lesions like angiomas and lipomas. I've had a few patients with Cowden syndrome who have a strong history of breast cancer and who have elected to have prophylactic mastectomies.”
Up to 50% of women with Cowden's disease get breast cancer, and 10% are diagnosed with thyroid cancer, he added.
▸ Gardner syndrome. This condition typically presents as deforming epidermoid cysts, though it may also include fibromas, lipomas, leiomyomas, trichoepitheliomas, and neurofibromas. About one-half of patients develop osteomas involving the membranous bones of the face and head. “Many reference sources say that the incidence of colon cancer in Gardner syndrome nears 100%,” said Dr. Thiers. “The standard of care in these patients appears to be frequent colonoscopies with consideration of prophylactic colectomy.”
▸ Muir-Torre syndrome. This condition is most often associated with carcinoma of the lower gastrointestinal tract, “although the tumors tend to be less aggressive than they are with Gardner syndrome,” Dr. Thiers said. The characteristic lesion is a sebaceous neoplasm, usually located on the trunk. “It could be benign, like a sebaceous adenoma, or it could be a sebaceous carcinoma.”
▸ Birt-Hogg-Dubé syndrome. This condition is associated with kidney cancer and is marked by benign fibrofolliculomas and trichodiscomas that most often occur on the head and neck. “These patients have an increased incidence of pneumothorax as well,” he said.
▸ Hereditary leiomyomatosis and renal cell cancer syndrome. This condition is marked by cutaneous leiomyomas and papillary renal cell carcinoma. The skin lesions typically occur before the age of 25.
“These patients not only have an increased risk of kidney cancer, but these tumors tend to occur at a very young age, and they tend to be quite aggressive,” Dr. Thiers noted. “If you see a patient with multiple leiomyomas, realize that this might not be purely a cutaneous phenomenon but part of a significant paraneoplastic syndrome.”
Dr. Thiers said that he had no relevant financial conflicts to disclose.
Multiple fibrofolliculomas inferior to the brow (A), and right pneumothorax, right lower lobe atelectasis, and multiple bilateral thin-wall cysts (B), are characteristic of Birt-Hogg-Dubé syndrome.
Source ©2010 Elsevier