Clin Endosc.  2013 Jan;46(1):85-90. 10.5946/ce.2013.46.1.85.

Autosomal Dominant Inherited Cowden's Disease in a Family

• Ha JW

• KMID: 1792646
• DOI: http://doi.org/10.5946/ce.2013.46.1.85

Abstract

Cowden's disease, also known as a kind of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome, is an uncommon autosomal dominant inherited complex disorder with various hamartomatous growths of multiple organs involving all three germ cell layers. It usually manifests with polyps throughout the gastrointestinal tract, ranging anywhere from 30% to 85%, and more common extra intestinal findings. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules and macrocephaly, and malignancies including breast, thyroid and endometrial carcinoma are the hallmark of the disease. Here we report on familial Cowden's diseases case of a 52-year-old male proband with mucocutaneous lesions and mutation on the PTEN gene obtained by extrapolating from gastrointestinal polyposis as a starter and his daughter who developed thyroid cancer.

Keyword

Multiple hamartoma syndrome; Intestinal polyposis; Papilloma; Macrocephaly

MeSH Terms

Breast
Endometrial Neoplasms
Female
Gastrointestinal Tract
Germ Cells
Hamartoma
Hamartoma Syndrome, Multiple
Humans
Intestinal Polyposis
Keratosis
Macrocephaly
Male
Microfilament Proteins
Nuclear Family
Papilloma
Polyps
Thyroid Gland
Thyroid Neoplasms
Microfilament Proteins

Figure

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  Fig. 1 Colonoscopic findings. Multiple polyps of different size and shape were found in (A) the terminal ileum and (B) the rectum.

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  Fig. 2 Multiple lipomatosis lesions and the neck computed tomography findings. (A) Soft hump on the neck. (B) Flaccid mass on the arm. (C) Dense fat masses located along both the submandibular and the anterior neck portions. (D) Multiple lipomas found in the supraclavicular and the posterior neck area.

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  Fig. 3 Pathognomonic mucocutaneous lesions. (A) Multiple cutaneous papules of black and dark brown pigmentations on the lips. (B) Multiple small papillomas on the gingiva. (C) Mucosal papillomas with cobblestone appearance found on the tongue. (D) Multiple whitish papillomas on the laryngeal surface of the epiglottis.

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  Fig. 4 Upper endoscopic findings. (A) Elevated flat acanthosis lesions with whitish color in the esophagus. (B) Numerous round polyps on the body of the stomach. (C) Many small polyps found in the second portion of the duodenum.

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  Fig. 5 Thyroid ultrasonography and microscopic findings of the gross specimen. (A) The 2-cm sized, well-defined, irregular marginated and hypoechoic round mass with the internal calcification (cross). (B) The metastatic lymph node of the left jugulodigastric chain shows loss of the central hilum and increase of the echogenicity (cross). (C) The microscopic feature shows the papillary carcinoma in the background of the Hashimoto thyroiditis (H&E stain, ×40). (D) The nucleus of the tumor cell has the ground glass appearance with some nuclear grooves or pseudo-inclusions (H&E stain, ×400).

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