Multiple hamartoma syndrome (Cowden's disease)

Abstract

The four male patients with multiple hamartoma syndrome (Cowden's disease) in this report, have most of the previously reported findings associated with this syndrome and several important unreported findings that include multiple cutaneous trichilemmomas, cafe-au-lait spots, cutaneous squamous cell carcinoma, pathologic fracture, craniomegaly, probable malignant lung tumor, retinal glioma, drusens of the optic disk and retina, pseudotumor cerebri, mediastinal mass, and multiple small papillomatous lesions of the esophagus, stomach, and duodenum.

Physiological Functions of Pten in Mouse Tissues.

“…The association of cutaneous squamous cell carcinomas with Cowden disease has also been reported (Camisa et al, 1984;Nuss et al, 1978).…”

Transcatheter Embolization of Arteriovenous Malformations in Cowden Disease

“…In other reported cases, the AVMs were too small to cause heart failure. 2,7,8 Another vascular abnormality, hemangioma, has been commonly described in previous reports and has been found to occur in 23.9 9 -33.7 4 % of patients with Cowden disease. Because Cowden disease is caused by tridermic abnormalities, it can potentially be complicated by various vascular abnormalities.…”

Crosstalk Between Pten and Ras Signaling Pathways in Tumor Development

“…11 In fact, the association between Pten deficiency and cutaneous squamous cell carcinomas has only been demonstrated in Cowden's disease in which mutations in Pten are acquired through germline transmission. 12,13 …”

“…Mice that are constitutively Pten heterozygous mimic the condition of Cowden disease, and offer a unique model system to study skin cancer development in a manner akin to the situation in humans. 12,13 …”