Cowden Syndrome, Multiple Harmartoma Syndrome: PTEN Sequencing

Diagnostic Use

Cowden disease (CD) also known as multiple hamartoma syndrome is characterised by a range of clinical manifestations including multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid. Verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa and multiple facial trichilemmomas are also common. Further manifestations include macroencephaly and hamartomatous polyps of the colon and other intestines. However the most serious problem is the increased risk of malignancies of the bowel, breast, skin, brain and thyroid. Other diseases iso-allelic to Cowden disease i.e. caused by mutations in the PTEN gene, include Lhermitte-Duclos disease, Bannayan Zonana syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome. Mutation analysis of the entire coding region of PTEN and its promoter may detect 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS) and approximately 50% of a Proteus-like syndrome (PSL).


Genetics - Molecular Pathology

Delphic Registration Code


Constituent Tests


Bannayan Zonana
Proteus syndrome

Turnaround Time

4 weeks

Test Code