Ann Dermatol.  2015 Jun;27(3):306-309. 10.5021/ad.2015.27.3.306.

Cowden Syndrome with a Novel Germline PTEN Mutation and an Unusual Clinical Course

• Seol JE
• Park IH
• Lee W
• Kim H
• Seo JK
• Oh SH

• KMID: 2352502
• DOI: http://doi.org/10.5021/ad.2015.27.3.306

Abstract

Here, we report a case of Cowden syndrome with an unusual clinical course of late-onset oral papillomatosis and a novel germline PTEN mutation. Cowden syndrome is the most common phosphatase and tensin homolog hamartomatous tumor syndrome. It is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratoses. Patients with Cowden syndrome have a higher risk of malignancies, especially breast, colon, and thyroid cancers. A 53-year-old female presented with cobblestone-like papillomatous papules on the lower gums that developed 1 year earlier. She had no other mucocutaneous lesions besides oral papillomatosis. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. The patient had a history of breast cancer and multinodular goiter diagnosed 4 and 5 years ago, respectively. She was diagnosed with Cowden syndrome and a novel PTEN mutation was confirmed by direct sequencing.

Keyword

Cowden syndrome; PTEN hamartoma tumor syndrome

MeSH Terms

Breast
Breast Neoplasms
Colon
Colonoscopy
Endoscopy, Gastrointestinal
Female
Gastrointestinal Tract
Gingiva
Goiter
Hamartoma
Hamartoma Syndrome, Multiple*
Humans
Keratosis
Middle Aged
Papilloma
Stomach
Thyroid Gland

Figure

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  Fig. 1 Brain magnetic resonance imaging performed 4 years earlier showing a hyperintense lesion on the right cerebellum suggestive of hamartomatous hypertrophy.

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  Fig. 2 (A) A 53-year-old woman who presented with multiple cobblestone-like papules on her lower gums. (B) Histopathological findings revealed prominent acanthosis and papillomatosis in the epidermis and proliferation of collagen fibers in the dermis (H&E, ×40).

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  Fig. 3 Colonoscopy showing multiple hamartomatous polyps in the ileocecal valve.

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  Fig. 4 Electropherograms of the PTEN gene. Sequence analysis revealed a heterozygous TAAA deletion (underlined) between cDNA position 987 and 990. In the reverse strand (top), heterozygous peaks before the deletion site (987-990) represent a mixture of the deleted sequence (middle) and undeleted sequences (bottom).

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