Bannayan-Riley-Ruvalcaba syndrome

1998-11-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

Name

Bannayan-Riley-Ruvalcaba syndrome

Alias

Bannayan-Zonana syndrome , Riley-Smith syndrome , Ruvalcaba-Myhre-Smith syndrome , Macrocephaly, pseudopapilledema, multiple hemangiomata , Macrocephaly, multiple lipomas, hemangiomata

Inheritance

autosomal dominant; existence of sporadic cases

Omim

153480

Mesh

D006223

Orphanet

109 Bannayan-Riley-Ruvalcaba syndrome

Umls

C0265326

Clinics

Note

Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome \/ hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are :
  • Beckwith-Weideman syndrome,
  • Sotos syndrome (cerebral gigantism),
  • Hemihyperplasia (hemihypertrophy), and
  • Simpson Golabi Behemel syndrome.

    • Phenotype and clinics

    onset in chilhood (in contrast with Cowden disease, although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients).
    - overgrowth at birth (postnatal growth decelerates).
    - macrocephaly
    - hypotonia and mental deficiency
    - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.
    - myopathy of the proximal type in 2\/3 of cases
    - pigmentation spots of the male genitalia

    Neoplastic risk

  • multiple lipomas (75% of cases).
  • hemangiomas (40%).
  • hamartomatous polyps (ileus and colon; 45%).
  • lymphangiomas (10%).

    • Genes involved and Proteins

    Description

    403 amino acids

    Function

    protein tyrosine phosphatase; tumour suppressor gene

    Germinal

    may be not all Bannayan-Riley-Ruvalcaba syndrome cases are due to PTEN mutations; germ-line mutations have also been described in Cowden disease and in some cases with juvenile polyposis syndrome.

    Somatic

    PTEN is mutated in a large number of cancer types

    To be noted

    Hgmd

    6022948 PTEN

    Bibliography

    Pubmed IDLast YearTitleAuthors
    92864631997Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.Arch EM et al
    50915901971Lipomatosis, angiomatosis, and macrencephalia. A previously undescribed congenital syndrome.Bannayan GA et al
    96618811998Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Riley-Ruvalcaba syndrome.Carethers JM et al
    97819091998Inherited macrocephaly-hamartoma syndromes.DiLiberti JH et al
    94670111998Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.Marsh DJ et al
    92412661997Germline mutations in PTEN are present in Bannayan-Zonana syndrome.Marsh DJ et al
    74491781980Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.Ruvalcaba RH et al

    External Links