Bannayan-Riley-Ruvalcaba syndrome


Also found in: Acronyms, Wikipedia.

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 ?
A myriad of syndromes are characterized by substantial localized or asymmetric tissue overgrowth, represented by Beckwith-Wiedemann syndrome, Sotos syndrome, Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung's disease, neurofibromatosis type I, Weaver syndrome, Nevo syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Perlman syndrome, Pallister-Killian syndrome, and many other conditions.
CS and Bannayan-Riley-Ruvalcaba syndrome are part of the PTEN hamartoma tumor syndrome (PHTS), an autosomal dominant genodermatosis characterized by hamartomatous lesions involving tissues of ectodermal, mesodermal, and endodermal origin.
Cowden disease and Bannayan-Riley-Ruvalcaba syndrome and first-degree relatives
PHTS includes Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Proteus-like syndrome (1,2).
Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.
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].