Bannayan-Riley-Ruvalcaba syndrome


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Bannayan-Riley-Ruvalcaba syndrome

A rare autosomal dominant disorder (OMIM:153480) characterised by: excessive growth before and after birth; increased birth weight and length; macrocephaly often with scaphocephaly; normal intelligence or mild mental retardation; multiple subcutaneous hamartomas, lipomas, macrocephaly and hemangiomas; ocular defects (strabismus, ocular hypertelorism, exotropia and/or pseudopapilledema, hypotonia); drooling; delayed speech development and/or significant delay in developmental milestones (sitting, standing, walking); hamartomatous polyps in gastrointestinal tract and oropharynx; marbled  skin pigmentation (cutis marmorata and pigmented macules on the penis or vulva); and myopathy.

Molecular pathology
Like Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, Proteus syndrome and Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome is caused by mutations of PTEN, all of which are known as PTEN hamartoma-tumour syndromes.
References in periodicals archive ?
Cowden disease and Bannayan-Riley-Ruvalcaba syndrome and first-degree relatives
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Risk factors for breast cancer include increased mammographic density [46], previous breast cancer [47], a family history of breast cancer [48], genetic mutations; BRCA1 /BRCA2 [49], TP53 (Li-Fraumeni Syndrome) and PTEN Cowden and Bannayan-Riley-Ruvalcaba syndromes [50], a biopsy-proven diagnosis of atypia [51], lobular carcinoma in situ [52], radial scar [53] and previous mantle radiation for Hodgkin's disease (HD) [54,55].