Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome
Yükleniyor...
Tarih
2005
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Mosby, Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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.
Açıklama
ERKEK, BULENT/0000-0002-9041-341X; ULKATAN, SEDAT/0000-0002-9288-7635
Anahtar Kelimeler
Kaynak
Journal Of The American Academy Of Dermatology
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
53
Sayı
4
Künye
closedAccess
