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"Cow's Den"

Cowden's syndrome - A Multiple Hamartoma and Neoplasia Syndrome

Dr Sampurna Roy MD                                 May 2016  

 


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Cowden's syndrome (CS), also known as multiple hamartoma syndrome, was first described in 1963 by Lloyd and Dennis.

It is a rare genodermatosis with an autosomal dominant pattern of inheritance.

Most patients with CS have a germ-line mutation in the tumor suppressor gene phosphatase and tensin homologue (PTEN), located on chromosome 10q23.

 

Cutaneous Lesions:

Cutaneous lesions are the first signal in Cowden's syndrome patients and therefore may be the first clue for early diagnosis before severe malignancies develop.

In most patients pathognomonic cutaneous lesions such as trichilemmomas,acral keratoses and pits on the palms and soles develop.

The tumour of the follicular infundibulum may also arise in this condition.

These lesions usually appear in late adolescence.

Common facial lesions in Cowden's Syndrome are:

1) Trichilemmomas 

2) Tumour of the Follicular infundibulum.

3) Acral Keratosis

1)  

 

        

  Visit:     Pathology of Trichilemmoma

 2)     

Image of Tumour of the Follicular infundibulum.

3)

       Image of Acral Keratosis

 

Multiple Cutaneous and Mucocutaneous lesions are constant features:

       

   Image of Sclerotic fibroma in the oral cavity

Oral papules in the lips, gingiva and tongue are noted which is described as a "cobble stone appearance".

Sclerotic fibroma is a unique benign fibrous tumor which was originally recognized as a cutaneous manifestation of Cowden's syndrome.

Microscopically, these tumors are well circumscribed, paucicellular, dermal nodules that are composed of thick collagen bundles separated from one another by prominent clefts, and the collagen bundles are arranged in a whorled or storiform pattern.

Intraorally, the patients with Cowden's syndrome typically present with numerous pink or mucosa-colored papular lesions that often involve the tongue, gingiva and lips.

In most cases, the oral papules reveal non-specific histologic features that are consistent with epithelial and fibrous hyperplasia.

 

Different visceral organs are involved in Cowden's syndrome.

 1)

 

 2)

 

Subcutaneous lipomas and neuromas may develop in Cowden's syndrome.


 1)

 

2)

 

 3)   

Thyroid lesions include benign:

1) multinodular goiter, lymphocytic thyroiditis or adenomas.

Thyroid cancer occurs in some patients and represents the second most common cancer in Cowden's syndrome.

These cancers are usually

2) Follicular or

3) Papillary type.


1)

2)

Fibrocystic disease of the breast has been reported in many patients and breast cancer is the most common malignancy of Cowden's syndrome.

It is the most important cause of death.


1) 2)

Polyps of the gastrointestinal tract occur in at least 50 % of Cowden's syndrome patients, leading to an increased risk for 2) colorectal cancer.


 

Endometrial cancer has been reported in many women with Cowden's syndrome.


Macrocephaly is a common finding in Cowden's syndrome patients. It is a characteristic feature of a Bannayan-Zonana Syndrome which is genetically similar to Cowden's Syndrome.


Other common findings include benign ovarian cysts, neurologic malformations, mental retardation and an immune dysfunction.


Next time you report a Trichilemmoma don't "Moo like a cow". Always remember every organ is connected in the human body. Correlate with clinical findings, discuss with clinicians and take opinion of general pathologists.

 

 

Further reading:

RE: Cowden syndrome and PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Cowden Syndrome: report of a case and brief review of literature.

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

Differentiated thyroid carcinoma and intestinal polyposis syndromes.

 


"My mother said I must always be intolerant of ignorance but understanding of illiteracy. That some people, unable to go to school, were more intelligent and more educated than college professors."   Maya Angelou.

(Mother's Day - 10th May)

 


 

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