To review the most common radiological findings on Cowden Syndrome.
Cowden Syndrome is an autosomal dominant disorder.
It belongs to a group linked to germline mutations in the Phosphate and Tensin homolog tumour suppressor gene (PTEN) that includes basically three disorders: the Cowden Syndrome,
the Bannayan-Ruvalcaba Syndrome and the Proteus-like Syndrome.
Given the common genetic aetiology of the aforementioned syndromes,
they are grouped under the term PTEN hamartoma tumour syndromes (PTHS).
Amongst these three syndromes,
is the prototype,
the most well-known and better characterised one.It was described for the first time in 1962...
Findings and procedure details
We now describe the most common features and pathologies related to Cowden Syndrome,
and a variety of radiological findings we should look for when this syndrome is suspected.
1. Mucocutaneous manifestations:
Mucosae and skin features are present in around 90-100% of patients with Cowden Syndrome and are many times the initial finding.
They begin to appear generally around the second decade of life,
in earlier stages than the life-threatening malignancies.
The most common lesions are the facial papules,
with predilection for the perioral area and...
Cowden Syndrome is likely to be an underdiagnosed condition,
but its identification is of vital importance due to its cancer development predisposition.
Some of the features that have been described in Cowden Syndrome,
and that are characteristic of this disorder,
can also be found in the general population with relative frequency,
which makes clarifying the real prevalence of the syndrome difficult.
We mus always consider the possibility of Cowden-Syndrome when encountering with multi-organ tumours,
searching for other manifestations,
especially the characteristic mucocutaneous conditions; thrichilemmomas.
1. Juan de Dios García Díaz; Síndrome de Cowden; Grupo de trabajo sobre cáncer en síndrome genéticos pilomalformativos (GT-CSGP); Orphanet February 2012
2. Katherine H.
James; Cowden Disease (Multiple Hamartoma Syndrome); Medscape 24 June 2016
3. JNCI: Journal of the National Cancer Institute,
1 June 2014
4. Kurek KC,
et al; The American Journal of Surgical Pathology; PTENhamartomaofsofttissue: a distinctive lesion in PTEN syndromes; May 2012; 36...