Cowden-Syndrom

Cowden

syndrome • Gliosarcoma - in patient with Cowden's syndrome - Ganzer Fall bei Radiopaedia

Lai L, Gliosarcoma - in patient with Cowden's syndrome. Case study, Radiopaedia.org (Accessed on 25 Jan 2023) https://doi.org/10.53347/rID-30599 • CC by-nc-sa 3.0 (modified)

Challenges in

the management of a patient with Cowden syndrome: case report and literature review. T1-weighted breast MRI. Representation of well-circumscribed, oval, multifocal, bilateral high signal intensity lesions.

hccpjournal.biomedcentral.com • CC-by-2.0

Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial contrast enhanced CT of the brain. a Large homogenously enhancing left sphenoid wing meningioma with associated hyperostosis and extension into the left anterior temporal fossa and left extraconal space. b Smaller well-defined enhancing extra-axial lesion in the right frontal lobe (arrow), consistent with a convexity meningioma

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Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial contrast enhanced CT at the level of C1. Left parotid arteriovenous malformation with a left external carotid artery branch feeding vessel (straight arrow), along with an enlarged draining vein (curved arrow)

bmcresnotes.biomedcentral.com • CC-by-4.0

Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial contrast enhanced CT at the level of the thyroid gland. Left thyroidectomy noted with multinodular enlargement of the right thyroid lobe with marked tracheal deviation to the left

bmcresnotes.biomedcentral.com • CC-by-4.0

Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial contrast enhanced CT of the Chest. The right breast lesion was partially imaged (curved arrow) pre-operatively along with skin thickening and level I and II axillary adenopathy (straight arrow)

bmcresnotes.biomedcentral.com • CC-by-4.0

Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial CT of the Chest: Pulmonary window. A solitary thin walled lung cyst was present in the periphery of the left upper lobe (arrow)

bmcresnotes.biomedcentral.com • CC-by-4.0

Multi-organ

benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature. Axial contrast enhanced CT of the Abdomen. Multiple hypo enhancing splenic lesions were seen (curved arrow), likely representing hamartomas as well as subcentimeter fat density lesions within the pancreas (average HU = −70) (straight arrows)

bmcresnotes.biomedcentral.com • CC-by-4.0

Radiopaedia • CC-by-nc-sa 3.0 • de

Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.

Terminology

Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of epidermal nevus syndrome.

Pathology

The disease is characterized by:

mucocutaneous lesions: present in >90% of cases
- trichilemmomas
- mucocutaneous papillomatous papules
gastrointestinal hamartomatous polyps (small and large bowel)
glycogenic acanthosis
thyroid abnormalities
- thyroid adenomas
- multinodular goiter
fibrocystic disease of the breast

In addition to benign hamartoma formation, the syndrome carries a recognized increased risk of cancers such as:

breast cancer: develops in 30-50% of those with the syndrome
thyroid cancer: develops in 5% of those with the syndrome, usually follicular
CNS: dysplastic cerebellar gangliocytoma, occurs when in association with Lhermitte-Duclos disease (LDD)

Syndromic associations

Cowden syndrome is part of a group of disease known as PTEN-related diseases, which also includes:

Genetics

It carries an autosomal dominant inheritance with variable penetrance. A gene locus for the disease has been identified on chromosome 10q22-23, a mutation of the PTEN gene.