Multiple Hamartoma Syndrome (Cowden's Disease)

Weary, Peyton E.

doi:10.1001/archderm.1972.01620140030010

Cited by 234 publications

(106 citation statements)

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“…First reported in 1963 1 and named for the family of the index patient, it is marked by increased cellular proliferation of ectodermal, mesodermal and endodermal tissues. 2 There is an association with the development of a variety of neoplasms, which may be benign or malignant, and in particular, cancer of the breast, thyroid, endometrium and skin has been described. Facial mucocutaneous lesions comprise the predominant feature of the disease and although the range of cutaneous lesions is numerous, multiple tricholemmomas are considered pathognomic.…”

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confidence: 99%

Testicular lipomatosis in Cowden's syndrome

et al. 2005

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Cowden's syndrome is either familial or sporadic and is associated with the predominantly postpubertal development of a variety of cutaneous, stromal and visceral neoplasms. The syndrome is associated with mutations of the PTEN gene and is closely related to Bannayan's syndrome in which macrocephaly and benign tumors, especially lipomas and hemangiomas are pathognomic. In PTEN knockout mice testicular tumors have been reported and for this reason we felt it prudent to examine the testes of our patients with genetically proven Cowden's syndrome. Seven of eight patients who underwent testicular ultrasound were found to have diffuse bilateral hyperechoic lesions. Four patients consented to testicular biopsy and on histological examination multiple foci of adipocytes were found within the testicular interstitium, with no evidence of dysplasia or preclinical malignancy. Immunohistochemical assessment of adipocytes suggested a stromal derivation without evidence of metaplasia from Leydig cells. In one case there was focal atrophy of seminiferous tubules, while in two others there was nodular periorchitis of the tunica albuginea. Biochemical evaluation of testicular function (luteinizing hormone, follicle-stimulating hormone, testosterone, sex hormone binding globulin and free androgen index), prostate-specific antigen and testicular tumor markers were normal, while seminal fluid analysis showed only minor abnormalities. The high incidence of testicular lipomatosis in our adult subjects suggests this to be an important diagnostic criterion for Cowden's syndrome.

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confidence: 99%

Testicular lipomatosis in Cowden's syndrome

et al. 2005

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“…Later, in 1972, Weary et al [6] confirmed the existence of this new syndrome through examination of five additional patients with similar clinical findings. The hamartomatous lesions observed in Cowden syndrome can arise in any of the three embryonic germ cell layers and thus it may be ectodermal, mesodermal or endodermal in origin [7] .…”

Section: Discussionmentioning

confidence: 87%

A case of Cowden syndrome diagnosed from multiple gastric polyposis

Chung²,

Hahm³

et al. 2012

WJG

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Cowden syndrome is a rare autosomal dominant disorder that is characterized by multiple hamartomas in a variety of tissues and this is associated with germline mutations in the phosphatase and tensin homologue (PTEN ) gene, which is the tumor suppressor gene located on chromosome 10q23.3. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal (GI) tract, bones, central nervous system, eyes, and genitourinary tract. Cowden syndrome does not have increased risk of GI malignancy; however, it has an increased risk of breast, thyroid and endometrial cancer development. Here the authors report a rare case of Cowden syndrome incidentally diagnosed from multiple gastric polyposis. A 29-year-old woman presented with multiple gastric polyps. The laboratory results were normal except for mild anemia, with a hemoglobin level of 11.9 g/dL. Esophagogastroduodenoscopy revealed multiple gastric, duodenal polyps and esophageal acanthosis. Colonoscopy revealed possible hamartomatous polyps in the rectum. Under the suspicion of Cowden syndrome, sonography of the thyroid and breasts was carried out, which revealed multiple thyroid masses. Subsequent fine-needle aspiration biopsy revealed the presence of clusters of follicular epithelial cells, and due to the possibility of malignancy, the patient underwent total thyroidectomy. The pathology was reported as invasive follicular carcinoma. A gene study by direct sequencing showed the presence of a PTEN mutation (c.633C > A /p.Cys211*).

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“…Cowden's disease, reported for the first time by Lloyd and Dennis in 1963 [1] , belongs to a multiple hamartoma syndrome [2] , and there have been more than 200 case reports in Japan. The diagnosis of Cowden's disease was originally made b based on the examination of skin and a family history of Cowden's disease [4] (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…There have been more than 200 case reports in Japan. Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed on the whole body [2] . About 30% of patients with Cowden's disease have been reported to be complicated by malignant tumors [3] .…”

Section: Introductionmentioning

confidence: 99%