J Korean Soc Radiol.  2013 Sep;69(3):251-255. 10.3348/jksr.2013.69.3.251.

Multiorgan Involvements of Cowden Disease in a 50-Year-Old Woman: A Case Report and Literature Overview

• Lee EJ
• Jung WS
• Ko JM
• Park HJ

• KMID: 2208809
• DOI: http://doi.org/10.3348/jksr.2013.69.3.251

Abstract

Cowden disease is the prototype of phosphate and, tensin homologue deleted on the chromosome 10 (PTEN) hamartoma tumor syndrome caused by germline mutations in the tumor suppressor PTEN, which is characterized by multiple developmentally disorganized benign growths, hamartomas, with an increased risk of both benign and malignant tumors. We present another case of Cowden disease in a 50-year-old woman. Besides the diagnostic criteria of Cowden disease, she had various manifestations in thyroid, lung, spleen, liver, pancreas, and muscle. As far as we know, it is the first case showing radiographic findings of hamartomatous lesions in thyroid, spleen, and pancreas, associated with Cowden disease.

MeSH Terms

Chromosomes, Human, Pair 10
Female
Germ-Line Mutation
Hamartoma
Hamartoma Syndrome, Multiple
Humans
Liver
Lung
Microfilament Proteins
Middle Aged
Multidetector Computed Tomography
Muscles
Pancreas
Spleen
Thyroid Gland
Microfilament Proteins

Figure

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  Fig. 1 Mammography shows a spiculated irregular mass with pleomorphic microcalcifications at the upper portion of the right central breast (arrow). Ipsilateral lymphadenopathy is associated.

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  Fig. 2 Chest CT scans with mediastinal window setting. A. A small discrete nodule is noted in the periphery of the lung (arrow). The nodule do not show FDG uptake on PET-CT scan (not shown). On the follow-up CT scan, there was no interval change of the nodule for 6 months (not shown). B. A small lung cyst (arrowhead) is also seen with an unclear relation to CD, but it may be a component of the hamartomatous lesions. Note.-CD = Cowden disease, FDG = fluorodeoxyglucose, PET-CT = positron emission tomography-CT

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  Fig. 3 CT scan shows diffuse enlargement of the thyroid gland with macrocalcifications. Note the multiple fat containing nodules (arrowheads), suggesting thyrolipomas.

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  Fig. 4 Contrast enhanced CT scans of abdomen. A. Hemangioma-like mass with fat density portion is seen in the right hepatic lobe (arrow). B. Multiple tiny fat density nodules (arrowheads) noted in pancreas tail suggest lipomas. The aforementioned hepatic mass is also visible (arrow).The lesions are noted with no FDG uptake on PET-CT (not shown). C. Low-density polyp is suspected within the sigmoid colon (arrow). The lesion is confirmed by colonoscopy. D. Fat containing enhanced nodule is noted within the right gluteus muscle (arrow). Note.-FDG = fluorodeoxyglucose, PET-CT = positron emission tomography-CT

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  Fig. 5 PET-CT shows no FDG uptake in the hepatic lesion (arrow). Note.-FDG = fluorodeoxyglucose, PET-CT = positron emission tomography-CT

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