Cowden syndrome: Case report, update and proposed diagnostic and surveillance routines

Molvi, Masuma; Dash, Kedarnath

doi:10.4103/0019-5154.156360

Cited by 15 publications

(17 citation statements)

References 12 publications

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“…This syndrome is a result of autosomal gene mutation inherited as a dominant trait. In most patients (80%), the tumor suppressor gene PTEN is mutated, while in other cases KILLIN, SDH B/D, PIK3CA and AKT1 gene mutations were found (46). Tumors most frequently arise in the skin, lungs, kidneys, liver, mucous membranes (eg.…”

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confidence: 99%

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Hamartoma: a rare developmental disorder

Bartyzel¹,

Max²,

Gruszczyńska³

et al. 2017

Medycyna Weterynaryjna

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SummaryHamartoma is a developmental disorder of various body parts and organs. It is characterized by a nonneoplastic growth of tissue with an uneven distribution and proportion of individual cells. Lesions progress for several years, but usually do not give clinical symptoms, and do not undergo malignant transformation. They occur alone or coexist with other defects, sometimes forming a characteristic clinical picture of a syndrome of congenital defects. Mutations in genes, such as PTEN, GLI3, SDH B/D, PIK3CA and ACT1, cause a dysfunction of the tumor suppressor gene and result in an increased neoplastic transformation. Hamartoma is a lesion between developmental disorders and benign tumors, which occurs frequently in humans, but is very rare in domestic animals. In a histopathological examination, however, it is diagnosed relatively often. In the veterinary literature, both hamartoma and choristoma are attributed mostly to errors in embryogenesis and are not considered as preneoplastic lesions.

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confidence: 99%

“…in the oral cavity), thyroid gland, mammary gland or gastrointestinal tract. Due to the impaired operation of the tumor suppressor gene, increased neoplastic transformation occurs, mainly in the mammary gland, thyroid gland and gonads (46).…”

mentioning

confidence: 99%

Hamartoma: a rare developmental disorder

Bartyzel¹,

Max²,

Gruszczyńska³

et al. 2017

Medycyna Weterynaryjna

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“…CS is a rare, autosomal dominant, genodermatosis characterized by multiple hamartomas in many organ systems, including the gastrointestinal tract, skin and oral mucosa . CS often has onset in the second to third decade of life, and is associated with an increased risk of malignancy, most commonly breast, thyroid, endometrial, colon and renal cell carcinomas …”

Section: Discussionmentioning

confidence: 99%

“…The most common mutation associated with CS is a germline mutation in the PTEN ( phosphate and tensin homolog) tumor suppressor gene located on chromosome 10, which acts via the PI3K/AKT/mTOR signaling pathway . PTEN mutations lead to unregulated cell cycling and uncontrolled cell growth and proliferation .…”

Section: Discussionmentioning

confidence: 99%

Multiple clear cell acanthomas and a sebaceous lymphadenoma presenting in a patient with Cowden syndrome – a case report

et al. 2016

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Cowden syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas and non-melanoma skin cancers excised in the past. He presented in four separate occasions with small skin-colored papulonodular lesions that upon excision revealed to be clear cell acanthomas. He also developed a tumor in the preauricular area that was completely resected and was found to be a sebaceous lymphadenoma (SLA) of the parotid gland. This is to our knowledge, the second report of clear cell acanthoma and also the second reported case of SLA in a patient with CS.

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“…The nature of this lesion remains unclear, however, hamartoma/hypertrophy accounts for most of the nomenclatures of this disease. Typically, patients present with headache, cerebellar dysfunction, occlusive hydrocephalus and cranial nerve palsies [3,4,9,10]. It is often associated with Cowden syndrome and is pathognomonic for this disease.…”

Section: Discussionmentioning

confidence: 99%

Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation

Nair¹,

Kumar²,

Ce³

2016

J Neurol Disord

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Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden's syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the internal granular layer of the cerebellum is a consistent finding in our case, the background setting of Cowden's syndrome was not present in our case.

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Cowden syndrome: Case report, update and proposed diagnostic and surveillance routines

Cited by 15 publications

References 12 publications

Hamartoma: a rare developmental disorder

Hamartoma: a rare developmental disorder

Multiple clear cell acanthomas and a sebaceous lymphadenoma presenting in a patient with Cowden syndrome – a case report

Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation

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