Cowden’s syndrome: a clinical, immunological, and histopathological study

Amer, Mohamed A.; Mostafa, Fawzia Farag; Attwa, Enayat; Ibrahim, Samia

doi:10.1111/j.1365-4632.2010.04669.x

Cited by 15 publications

(11 citation statements)

References 20 publications

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“…Cowden's syndrome, also known as multiple hamartoma syndrome, is a cancer-associated dermatosis. It is characterized by hamartomas of the gastrointestinal tract and cancer of the breast, endometrium, brain, and thyroid [48]. Up to 85% of these patients have multinodular goiters [46], and frequently associated benign tumors harbor a risk of progression to carcinoma [49].…”

Section: Genetic Diseasementioning

confidence: 99%

Evaluation and Management of the Pediatric Thyroid Nodule

et al. 2014

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Thyroid nodules are commonly diagnosed in adults. Although rare in children, the risk for thyroid cancer is much higher in the pediatric population compared with adults. Presenting as either a solitary nodule or a multinodular goiter, thyroid nodular disease in children requires a thorough workup that includes a detailed clinical examination comprised of prior history of thyroid disease in the patient or in their family, history of radiation exposure, careful palpation of the thyroid and lymph nodes, blood tests, ultrasonography, and cytological assessment. Thyroid surgery is the gold‐standard treatment for pediatric thyroid nodules; nonetheless, the extent of surgery remains controversial. Because surgery is not without risk, the decision matrix necessitates focus on the benefits of surgery for the child contingent upon all the preoperative exams. New diagnostic technology such as molecular testing with fine needle aspiration biopsy may help distinguish between benign and malignant lesions while potentially decreasing surgery for benign disease. The objective of this review is to summarize new concepts in clinical disease management of nodular thyroid disease in the pediatric population, including patient history, medical examination, and diagnosis workup.

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Section: Genetic Diseasementioning

confidence: 99%

Evaluation and Management of the Pediatric Thyroid Nodule

et al. 2014

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“…In our case, considering the lesions on the face, palms and soles, oral mucosa, accompanying vitiligo and bilateral diffuse thyroid disease found by thyroid ultrasound, we first thought of Cowden syndrome (CS). 4 However, no papillomatosis was found in mucosal biopsies and skin biopsies suggested KA. Furthermore, a PTEN gene test was negative.…”

Section: Discussionmentioning

confidence: 98%

Generalized eruptive keratoacanthoma with vitiligo followed by the development of prurigo nodularis: A case report and published work review

Zhang

et al. 2017

The Journal of Dermatology

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Herein, we report a unique case of generalized eruptive keratoacanthoma (GEKA) in a 47-year-old Chinese man presenting with extensive pruritic papules and nodules accompanied by oral lesions. He also had a 2-year history of vitiligo and long-term experience of working outdoors. Biopsies were consistent with keratoacanthoma . Interestingly, prurigo nodularis (PN) was found in histopathology at 1-year follow up. To our knowledge, this is the first report describing a case of GEKA with oral lesions complicated with vitiligo and developed with PN.

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“…Although expression of the disease is variable, cutaneous lesions are common and pathognomon 5,7 Usually these lesions are the first signal in CS patients and therefore may serve as first clue for early diagnosis before severe malignancies develop. 8,9 In over 90% of CS patients pathognomonic cutaneous lesions such as trichilemmomas, acral keratoses, pits on the palms and soles, and papular lesions on the lips and oral mucosa with a characteristic cobblestone-like pattern develop.…”

Section: Discussionmentioning

confidence: 99%

“…8,9 In over 90% of CS patients pathognomonic cutaneous lesions such as trichilemmomas, acral keratoses, pits on the palms and soles, and papular lesions on the lips and oral mucosa with a characteristic cobblestone-like pattern develop. 7,8 Lipomas are also a common finding in CS. All of these lesions were found in the case described in this report.…”

Section: Discussionmentioning

confidence: 99%

Cowden Syndrome: report of a case and brief review of literature

Porto

Roider

Ruzicka

2013

An. Bras. Dermatol.

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We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.

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Cowden’s syndrome: a clinical, immunological, and histopathological study

Abstract: Some cases of Cowden's syndrome may be associated with prominent flexural skin lesions, recurrent pyogenic and fungal skin infections, decreased total T and B-cell counts, and an abnormal helper:suppressor ratio.

Cited by 15 publications

References 20 publications

Evaluation and Management of the Pediatric Thyroid Nodule

Evaluation and Management of the Pediatric Thyroid Nodule

Generalized eruptive keratoacanthoma with vitiligo followed by the development of prurigo nodularis: A case report and published work review

Cowden Syndrome: report of a case and brief review of literature

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