CNS, Thyroid / Parathyroids, Gastrointestinal tract, MR-Diffusion/Perfusion, Ultrasound, CT-Colonography, Diagnostic procedure, Connective tissue disorders, Cancer
M. Gredilla1, M. LETURIA ETXEBERRIA2, A. Serdio3, J. Elejondo Oddo4, E. Pardo Zudaire5; 1DONOSTIA/ES, 2San Sebastian, Gipuzkoa/ES, 3Donostia - San Sebastián/ES, 4San Sebastián/ES, 5San sebastian/ES
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.
Genetic molecular tests may be offered and performed to try to assess for the typical genetic mutations,
the agreed diagnostic criteria must always be used and fulfilled for a proper diagnosis,
as evidence for genetic testing criteria is limited.
Radiologists play an important role in the detection,
diagnosis and monitoring of some of the characteristic features of this syndrome,
should be able to recognise them and know when to look for them.
Even though the study of this disease is complex,
preferably multi-centric and prospective ones,
are needed for its better characterisation and understanding.