title: Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome.
abstract: Bannayan-Riley-Ruvalcaba syndrome is a rare autosomal dominant genodermatosis with the classical triad of macrocephaly, genital lentiginosis, and intestinal polyposis. Characteristic mucocutaneous manifestations include vascular malformations, lipomatosis, speckled lentiginosis of the penis or vulva, facial verrucae-like or acanthosis nigricans-like lesions, and multiple acrochordons of the neck, axilla, and groin. We present a case of Bannayan-Riley-Ruvalcaba syndrome with macrocephaly, abnormal facies, lipoma, tender and painful arteriovenous hemangiomas, lymphangiokeratomas, musculoskeletal abnormalities, and localized myopathy. We also describe previously unreported findings, including peripheral neuropathy, punctate cystic changes in acral tubular bones, and enostosis of talus. Bannayan-Riley-Ruvalcaba syndrome needs recognition by dermatologists because affected patients may present with mucocutaneous and subcutaneous lesions that may simulate other dermatological disorders.
authors.affiliation: Department of Dermatology, Kirikkale University Faculty of Medicine, Kirikkale, Turkey. emelerkek@hotmail.com
authors.forename: Emel
authors.initials: E
authors.lastname: Erkek
authors.forename: Selda
authors.initials: S
authors.lastname: Hizel
authors.forename: Cihat
authors.initials: C
authors.lastname: Sanlý
authors.forename: A Bulent
authors.initials: AB
authors.lastname: Erkek
authors.forename: Meryem
authors.initials: M
authors.lastname: Tombakoglu
authors.forename: Onder
authors.initials: O
authors.lastname: Bozdogan
authors.forename: Sedat
authors.initials: S
authors.lastname: Ulkatan
authors.forename: Cengiz
authors.initials: C
authors.lastname: Akarsu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D011125:Adenomatous Polyposis Coli / Q000601:surgery; D002648:Child; D020405:Dermis / Q000473:pathology; D018095:Germ-Line Mutation; D006257:Head / Q000002:abnormalities*; D006391:Hemangioma / Q000473:pathology; D006801:Humans; D007642:Keratosis / Q000473:pathology; D007911:Lentigo / Q000473:pathology; D008297:Male; D051059:PTEN Phosphohydrolase / Q000235:genetics; D010409:Penile Diseases / Q000473:pathology; D013577:Syndrome; D014860:Warts / Q000473:pathology
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human