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Review
. 2013 Nov-Dec;88(6 Suppl 1):52-5.
doi: 10.1590/abd1806-4841.20132578.

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

Ana Carolina Souza Porto  1 , Elisabeth Roider  1 , Thomas Ruzicka  2
Affiliations
Review

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

Ana Carolina Souza Porto et al. An Bras Dermatol. 2013 Nov-Dec.

Abstract
in English, Portuguese

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.

Apresentamos o caso de uma paciente com lesões cutâneas faciais, mucosa oral com aparência de paralelepípedo, e lesões de aspecto verrucoso na mão desde a sua juventude. Ela relatou uma história de câncer de mama, câncer de endométrio, melanoma e múltiplos tumores benignos e cistos. A análise genética PTEN foi realizada e confirmou a Síndrome de Cowden, uma genodermatose rara, com um padrão de herança autossômica dominante, caracterizada por múltiplos hamartomas. O gene homólogo de fosfatase e angiotensina (PTEN) regula negativamente a proliferação celular e a progressão do ciclo celular. A perda da função PTEN contribui para um aumento do risco de câncer. Ressaltamos a importância da detecção precoce e tratamento preciso da Síndrome de Cowden.

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Conflict of interest statement

Conflict of interest: None

Figures

FIGURE 1
FIGURE 1
A. Small yellowish papules of flat top around the eye. B. Papular lesions on the lips with characteristic cobblestone-like pattern
FIGURE 2
FIGURE 2
A. Acral hyperkeratoses. B. Palmar pits
FIGURE 3
FIGURE 3
Skin biopsy of the periorbital region showed a nodular proliferation with papillomatosis, overlying hyperkeratosis and downgrowth of epithelial cells presenting a tricholemmoma
FIGURE 4
FIGURE 4
Skin biopsy of one back-of-hand lesion showed regular ortho-and hyperkeratosis
See this image and copyright information in PMC

References

    1. The National Comprehensive Cancer Network (NCCN) Clinical Practice Guidelines in Oncology.Genetic/Familial High-Risk Assessment: Breast and Ovarian Cancer. Version 1.2012. New York: NCCN; 2012. - PubMed
    1. Bubien V, Bonnet F, Brouste V, Hoppe S, Barouk-Simonet E, David A, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50:255–263. - PubMed
    1. Melbârde-Gorkuða I, Irmejs A, Bçrziòa D, Strumfa I, Aboliòð A, Gardovskis A, et al. Challenges in the management of a patient with Cowden Syndrome: case report and literature review. Hered Cancer Clin Pract. 2012;10:5–5. - PMC - PubMed
    1. Hammami S, Berriche O, Ali HB, Hellara O, Ansar F, Mahjoub S. Managing the risk of cancer in Cowden Syndrome: a case report. J Med Case Rep. 2012;6:225–225. - PMC - PubMed
    1. Masmoudi A, Chermi ZM, Marrekchi S, Raida BS, Boudaya S, Mseddi M, et al. Cowden Syndrome. J Dermatol Case Rep. 2011;5:8–13. - PMC - PubMed

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