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Cowden syndrome (multiple hamartoma syndrome) is characterized by multiple facial papules, gingival papillomas, acral keratoses, and other hamartomatous lesions. There is a high incidence of breast and thyroid carcinoma. Recognition of this syndrome may lead to the early diagnosis of cancer.
Multiple hamartoma syndrome, also known as Cowden's disease, is a rare genodermatosis with multiple organ system involvement affecting tissues derived from ectodermal, endodermal, and mesodermal tissue layers. We describe two previously unreported cases of multiple hamartoma syndrome in a father and daughter. Both show classic features of multiple hamartoma syndrome, as well as other mucocutaneous findings. The father has been shown to have substantial cutaneous deposits of amyloid in the absence of underlying plasma cell dyscrasia or malignancy. Both individuals have undergone excision of a unique fibroma that has features that have been reported only in multiple hamartoma syndrome and should be added to the criteria used to define the entity.
This report deals with a female patient with multiple hamartoma syndrome (Cowden's disease) exhibiting characteristic cutaneous lesions and involvement of several inner organs.
First lesions of Cowden syndrome appear in the oral cavity and on the skin. Malignant transformation is a late, common event in thyroid and breast. The early diagnosis of Cowden disease prior to the development of internal malignancy, particularly of the breast and the thyroid gland, is very important. We emphasize that the dentist may be the first health care professional who recognizes the syndrome, and this is a crucial step in the prevention and cure of the predictable malignancy. This article presents a typical case of Cowden disease.
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The multiple hamartoma syndrome is a genetic disorder of autosomal dominant inheritance. It is characterized by an impressive diversity and multitude of both mesodermal and epithelial hamartomas and tumors of all organ systems. The dermatological hallmarks of this probably not too rare syndrome are lichenoid centrofacial and akral papular lesions and a marked papillomatosis of the entire oral mucosa of a highly characteristic morphology which usually extends throughout the entire length of the gastrointestinal tract. The importance of this syndrome is its frequent association with malignant tumors, predominantly carcinomas of the mammary and thyroid glands. In this paper, we describe the first three cases of the German literature. No malignancies were detected; in one case, a meningeoma causing severe increase of intracranial pressure was discovered.
Cowden's syndrome is a multisystem disease inherited as an autosomal dominant trait with incomplete penetrance and variable expression. The disease has typical oral manifestations which often precede more systemic involvement, and the dental professional is therefore well placed to institute a regime of regular checks to ensure early treatment of any neoplasms which may occur. However, since not all of the classical signs are present in all patients, diagnosis may be difficult. The case report of a patient with most of the features of Cowden's syndrome is presented and features compared with two other possible cases.
Multiple hamartoma syndrome, also known as Cowden's disease, is a rare genodermatosis with characteristic mucocutaneous lesions associated with multiple internal abnormalities. We describe a patient having classic dermatologic manifestations of Cowden's disease and multiple neoplasia including follicular adenocarcinoma of the thyroid gland with lung metastasis, intraductal breast carcinoma within a fibroadenoma, and an osteosarcoma. To our knowledge, this is the first reported case of an osteosarcoma in Cowden's disease.
Multiple hamartoma syndrome (also known as Cowden's syndrome) is a genetic disorder. The signs and symptoms of this disorder often do not appear concurrently or with the same degree of severity. While much of the literature regarding Cowden's syndrome (CS) focuses on the dermatologic and gastro-enterologic features of the disease, there also are unique oral and facial symptoms that manifest early in this condition. This disorder might be overlooked and underdiagnosed by the dental community. There is a strong link between CS and female breast cancer, thyroid cancer, gastrological polyps, and rare forms of brain cancer; as a result, it is essential for the dental community to gain a greater understanding of this syndrome and its unique oral manifestations.
Multiple hamartoma syndrome (Cowden's syndrome), a rare genodermatosis with predominant mucocutaneous features, particularly hamartomas, and Cowden/Lhermitte-Duclos disease, the combination of multiple hamartomas with cerebellar hypertrophy, typically present with cutaneous and oral papillomatosis as major features of both uncommon disorders. This article details the clinical features of three patients with multiple hamartoma syndrome and one with both disorders.
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Cowden's disease, also called multiple hamartoma syndrome, is a clinical entity characterized by hamartomatous tumours of endodermal, mesodermal and ectodermal origin. Although extremely rare, the disease must be known to all internists. A case of Cowden's disease in a 36-year old male patient is reported. The authors insist on the high incidence of digestive disorders and the risk of malignant degeneration of mammary and thyroid tumours. They also describe the cutaneous and mucosal lesions characteristic of the disease.
Multiple hamartoma syndrome is a genodermatosis with autosomal-dominant inheritance. Characteristic findings include mucocutaneous verrucoid papules, "cobblestoning" of the tongue, and hamartomas of multiple organ systems. Also reported are frequent malignancies, especially of the breast. Herein we report a case of a 42-year-old black woman with typical findings of multiple hamartoma syndrome, including an occult malignancy of the uterine cervix, an as yet unreported site of carcinoma in this syndrome. Additionally, we detail a previously unreported finding of bilateral angioid streaks of the optic fundi. Photographs displaying many of the typical features of multiple hamartoma syndrome and associated histopathology are included, along with a brief review of the literature.
We describe the clinicopathological features of multiple hamartoma and neoplasia syndrome (Cowden's syndrome) in a 58 year-old man and in a 56 year-old woman. The typical mucocutaneous lesions of this disorder were present in both cases. Visceral hamartomas involving thyroid and gastrointestinal system (polyposis) were present in both patients. Dermal or submucous fibromas are proposed as an additional diagnostic criterium of Cowden's syndrome. Associated abnormalities and visceral involvement in multiple hamartoma syndrome are reviewed.
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.
Cowden disease (CD) #158350, also known as multiple hamartoma syndrome, is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Mucocutaneous lesions are the most constant features: facial papules, acral keratoses and oral papillomatosis. The most common associated cancers are breast, thyroid and endometrial carcinomas. The CD gene locus has been mapped to chromosome 10q22-23. Subsequently the tumor suppressor gene PTEN was located to this chromosomal region and soon after germline mutations in the PTEN gene were demonstrated in CD patients. Somatic PTEN mutations have been found in a variety of sporadic cancers. So CD is an important clinical and genetic model for carcinogenesis. We recently observed four cases of CD and reviewed the literature on CD over the last 40 years, in particular the clinical and histopathological features, genetics, and diagnostic criteria. Based on these data we propose a possible management of CD patients. With increased knowledge and awareness of the typical mucocutaneous lesions an earlier diagnosis and an appropriate cancer surveillance of these patients might be possible.
A 70-year-old woman with the multiple hamartoma syndrome is described. Diagnosis was based on the clinical presentation and histopathologic examination of cutaneous trichilemmomas. The case is reported to document the association of Cowden's disease with non-Hodgkin's lymphoma. This is the first known report of the occurrence of trichilemmomas in the sacral area. The literature concerning the association of the multiple hamartoma syndrome with malignancy is reviewed.
A case of multiple hamartoma syndrome (Cowden's disease) associated with renal cell adenocarcinoma and primary neuroendocrine carcinoma of the skin is described. Neither of these neoplasms has been documented previously in association with this genodermatosis. A search for epidermal growth factor receptor (c-erb-B protooncogene) gene abnormalities in the kidney, liver, and thyroid, as well as in tissue of the primary neuroendocrine carcinoma, was negative. Serum obtained from the patient before his death contained elevated levels of both chromogranin A (2641 ng/mL; normal level, less than 20 ng/mL) and calcitonin (517 pg/mL; normal level, less than 200 pg/mL), suggesting that the patient's principal tumor was neuroendocrine in origin.