Figure 1
Figura 1
Multiple oesophageal polyps carpet the oesophagus giving it a cobblestone appearance.
Cowdens Disease (Multiple Hamartoma Syndrome)
SectionAbdominal imaging
Case TypeClinical Cases
AuthorsMarkos V, Chatur N *
Connected authors
38 years, male
Clinical History
Young man with long standing symptoms, gastrointestinal polyposis, goitre and skin lesions.
Imaging Findings
The patient complained of heartburn, non-specific episodic abdominal pain, intermittent history of diarrhoea, difficulty gaining weight and haemorrhoids for 15 years.
At upper GI series there were multiple plaque like lesions in the oesophagus giving it a cobblestone appearance. Incidentally at least three small polyps were seen in the stomach. Oesophagogastroscopy showed numerous oesophageal sessile polyps between 2-4mm and several 5mm gastric polyps. At flexible sigmoidoscopy, multiple small polyps were present throughout the sigmoid colon and rectum with the largest being approximately 4mm.
The oesophageal polyps at biopsy were found to be squamous papillomas. The gastric polyps were inflammatory and the polyps in the colon, ganglioneuromas. The rectal polyps were found on histology to be hyperplastic polyps.
As there was a history of difficulty in swallowing and fullness around the neck, an ultrasound was performed which identified multiple solid echo-poor lesions throughout the thyroid in keeping with multinodular goitre.
The patient had numerous small cutaneous papules mostly over his forehead and face along with other dermal and subdermal lesions over the upper back, hands, wrist and feet.
Genetic analysis confirmed evidence of a PTEN mutation; however only one person in his extended family (first cousin) had multiple skin lesions.
At upper GI series there were multiple plaque like lesions in the oesophagus giving it a cobblestone appearance. Incidentally at least three small polyps were seen in the stomach. Oesophagogastroscopy showed numerous oesophageal sessile polyps between 2-4mm and several 5mm gastric polyps. At flexible sigmoidoscopy, multiple small polyps were present throughout the sigmoid colon and rectum with the largest being approximately 4mm.
The oesophageal polyps at biopsy were found to be squamous papillomas. The gastric polyps were inflammatory and the polyps in the colon, ganglioneuromas. The rectal polyps were found on histology to be hyperplastic polyps.
As there was a history of difficulty in swallowing and fullness around the neck, an ultrasound was performed which identified multiple solid echo-poor lesions throughout the thyroid in keeping with multinodular goitre.
The patient had numerous small cutaneous papules mostly over his forehead and face along with other dermal and subdermal lesions over the upper back, hands, wrist and feet.
Genetic analysis confirmed evidence of a PTEN mutation; however only one person in his extended family (first cousin) had multiple skin lesions.
Discussion
Cowden disease (CD), also termed multiple hamartoma syndrome, is an autosomal dominant condition with variable expression that results from a mutation in the PTEN gene on chromosome arm 10q. Internationally, over 200 cases have been published. CD causes hamartomatous neoplasms of the skin and mucosa, GI tract, bones, central nervous system (CNS), eyes, and genitourinary tract. Skin is involved in 90-100% of cases; mucocutaneous features of CD include trichilemmomas, oral mucosal papilloma, acral keratoses, and palmoplantar keratoses.
Gastrointestinal (GI) abnormalities are present in as many as 72% of patients. Polyps can occur in the oesophagus, stomach, small or large intestine, or anus and are most common in the colon. These have been described as oesophageal squamous papilloma, hamartomatous and hyperplastic gastric polyps, adenoma, hamartoma and ganglioneuroma of colon. Although a few cases of adenocarcinoma of the colon in CD patients have been reported by Chen et al, the malignant potential of polyps is low.
The thyroid is involved in 66% of patients; manifestations include goitre, benign adenomas, and follicular adenocarcinomas. Thyroid cancer was diagnosed in 7% of patients (men more than women).
Carcinoma of the breast occurs in 20-36% of female patients and is one of the most serious consequences of CD. It also has been reported by Fackenthal et al in 2 men. Fibrocystic disease and fibroadenomas are present in approximately 75% of patients. Breast screening should be initiated early in women (possibly as soon as puberty is complete).
Lhermitte-Duclos disease currently is considered to be part of CD and is caused by hamartomatous growths of the cerebellum. Patients have macrocephaly, slowly progressive cerebellar ataxia (which usually appears in adulthood), and signs of increased intracranial pressure.
Prognosis:
CD is associated with the development of several types of malignancy, which is why recognition of individuals with the syndrome is important. In particular, a marked increase is seen in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women. Reports also exist of several other types of malignancies occurring in patients with CD.
At least 40% of CD patients have a minimum of 1 malignant primary tumour, although with long-term follow-up care, this number may be higher. Yen et al have reported patients with more than 1 malignancy. Many of the cancers are curable if detected early. Close follow-up care of these patients is necessary.
Gastrointestinal (GI) abnormalities are present in as many as 72% of patients. Polyps can occur in the oesophagus, stomach, small or large intestine, or anus and are most common in the colon. These have been described as oesophageal squamous papilloma, hamartomatous and hyperplastic gastric polyps, adenoma, hamartoma and ganglioneuroma of colon. Although a few cases of adenocarcinoma of the colon in CD patients have been reported by Chen et al, the malignant potential of polyps is low.
The thyroid is involved in 66% of patients; manifestations include goitre, benign adenomas, and follicular adenocarcinomas. Thyroid cancer was diagnosed in 7% of patients (men more than women).
Carcinoma of the breast occurs in 20-36% of female patients and is one of the most serious consequences of CD. It also has been reported by Fackenthal et al in 2 men. Fibrocystic disease and fibroadenomas are present in approximately 75% of patients. Breast screening should be initiated early in women (possibly as soon as puberty is complete).
Lhermitte-Duclos disease currently is considered to be part of CD and is caused by hamartomatous growths of the cerebellum. Patients have macrocephaly, slowly progressive cerebellar ataxia (which usually appears in adulthood), and signs of increased intracranial pressure.
Prognosis:
CD is associated with the development of several types of malignancy, which is why recognition of individuals with the syndrome is important. In particular, a marked increase is seen in the incidence of breast carcinoma in women and of thyroid carcinoma in both men and women. Reports also exist of several other types of malignancies occurring in patients with CD.
At least 40% of CD patients have a minimum of 1 malignant primary tumour, although with long-term follow-up care, this number may be higher. Yen et al have reported patients with more than 1 malignancy. Many of the cancers are curable if detected early. Close follow-up care of these patients is necessary.
Differential Diagnosis List
Cowdens disease
Final Diagnosis
Cowdens disease
References
[1]
Chen YM, Ott DJ, Wu WC, Gelfand DW.
Cowden's disease: a case report and literature review.
Gastrointest Radiol 1987; 12(4): 325-9. (PMID: 3040507)
[2]
Fackenthal JD, Marsh DJ, Richardson AL, et al.
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
J Med Genet 2001 Mar; 38(3): 159-64. (PMID: 11238682)
[3]
Mallory SB.
Cowden syndrome (multiple hamartoma syndrome).
Dermatol Clin 1995 Jan; 13(1): 27-31. (PMID: 7712647)
[4]
Yen BC, Kahn H, Schiller AL, et al.
Multiple hamartoma syndrome with osteosarcoma.
Arch Pathol Lab Med 1993 Dec; 117(12): 1252-4. (PMID: 8250698)
[5]
Walton BJ, Morain WD, Baughman RD, et al.
Cowden's disease: a further indication for prophylactic mastectomy.
Surgery 1986 Jan; 99(1): 82-6. (PMID: 3001960)
Case information
| URL: | https://www.eurorad.org/case/2839 |
| DOI: | 10.1594/EURORAD/CASE.2839 |
| ISSN: | 1563-4086 |
Figure 2
Figura 2
A few small polyps are seen in the body and antrum of stomach.
Figure 4
Figura 4
At least 10 sessile polyps such as this were seen in the rectum and sigmoid. The largest was about 4 mm.
Figura 1
Multiple oesophageal polyps carpet the oesophagus giving it a cobblestone appearance.
Figura 2
A few small polyps are seen in the body and antrum of stomach.
Figura 4
At least 10 sessile polyps such as this were seen in the rectum and sigmoid. The largest was about 4 mm.