1.A Case of Cowden's Disease Associated with Breast Cancer.
Jeong Ah SEO ; Kyu Jong KIM ; Eun Kyung SHIN ; Eun Mi LEE ; Won MOON ; Moo In PARK ; Young Ok KIM ; Seun Ja PARK
The Korean Journal of Gastroenterology 2007;49(3):183-186
Cowden's disease, also known as various hamartomatous malformations of multiple organs, is a rare autosomal dominant disorder. The most important feature of Cowden's disease is its frequent association with malignant neoplasm, particularly in the breast and thyroid gland. Cowden's disease with malignant neoplasms, is quite rare in Korea so far. We report a case of Cowden's disease associated with breast cancer in a 41-year-old female who underwent routine health cheek-up.
Adult
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Breast Neoplasms/*complications/pathology
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Colonoscopy
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Female
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Gastrointestinal Tract/pathology
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Gastroscopy
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Hamartoma Syndrome, Multiple/complications/*diagnosis
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Humans
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Polyps/diagnosis
2.Large Forehead Nodule with Multiple Facial and Oral Papules.
May Mq LIAU ; Kong Bing TAN ; Victor Km LEE ; Sue Ann Je HO
Annals of the Academy of Medicine, Singapore 2016;45(10):481-483
Adult
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Facial Neoplasms
;
diagnosis
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etiology
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pathology
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Fibroma
;
diagnosis
;
etiology
;
pathology
;
Forehead
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Hamartoma Syndrome, Multiple
;
complications
;
diagnosis
;
pathology
;
Humans
;
Male
;
Mouth Neoplasms
;
diagnosis
;
etiology
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Papilloma
;
diagnosis
;
etiology
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Skin Neoplasms
;
diagnosis
;
etiology
;
pathology
3.Cowden Syndrome Presenting as Breast Cancer: Imaging and Clinical Features.
Mirinae SEO ; Nariya CHO ; Hye Shin AHN ; Hyeong Gon MOON
Korean Journal of Radiology 2014;15(5):586-590
Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Arteriovenous Malformations/radiography
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Breast Neoplasms/*complications/*diagnosis/ultrasonography
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DNA/analysis
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DNA Mutational Analysis
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Diagnosis, Differential
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Female
;
Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography
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Humans
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PTEN Phosphohydrolase/genetics
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Thyroid Neoplasms/radiography
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Tomography, X-Ray Computed
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Young Adult
4.Assessing a Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) with 7T MR Imaging.
Christoph MOENNINGHOFF ; Oliver KRAFF ; Marc SCHLAMANN ; Mark E LADD ; Zaza KATSARAVA ; Elke R GIZEWSKI
Korean Journal of Radiology 2010;11(2):244-248
Lhermitte-Duclos disease (LDD; dysplastic cerebellar gangliocytoma) is a rare hamartomatous lesion of the cerebellar cortex and this was first described in 1920. LDD is considered to be part of the autosomal-dominant phacomatosis and cancer syndrome Cowden disease (CS). We examined the brain of a 46-year-old man, who displayed the manifestations of CS, with 7 Tesla (T) and 1.5T MRI and 1.5T MR spectroscopy (1H-MRS). We discuss the possible benefits of employing ultrahigh-field MRI for making the diagnosis of this rare lesion.
Cerebellar Cortex/pathology
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Cerebellar Neoplasms/complications/*pathology
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Diagnosis, Differential
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Gait Ataxia/etiology
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Hamartoma Syndrome, Multiple/complications/*pathology
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Humans
;
Image Processing, Computer-Assisted/methods
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Magnetic Resonance Imaging/*methods
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Magnetic Resonance Spectroscopy/methods
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Magnetics
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Male
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Middle Aged
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Vertigo/etiology