PTEN Hamartomatous Tumor syndrome (PHTS) is the proposed name for a unified syndrome including Cowden Disease and Bannayan-Ruvalcaba-Riley syndrome (BRRS)
BRRS is a pediatric disorder characterized by macrocephaly, developmental retardation and penile pigmented macules
Among the many abnormalities, the following are of most relevance to surgical pathologists:
Subcutaneous lipomas and angiolipomas
Lymphangiomyomas and hemangiomas
Angiokeratomas
Pigmented macules of glans penis
Intestinal hamartomatous polyps
Hashimoto thyroiditis
Increased GI cancer risk has not been demonstrated
Both are associated with mutations of PTEN at 10q23.31
Proteus syndrome and proteus-like syndrome are included by some in PHTS
Prominent smooth muscle extension into lamina propria of polyps
Smooth muscle in lamina propria usually not promiinent
No associated lesions
Most have facial and oral papillomas, fibromas and skin tumors, see description LINK
No genetic abnormality
PTEN mutations in 80%
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