An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family

Authors
Perriard, J Saurat, JH Harms, M
Citation
J. Perriard et al., An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family, J AM ACAD D, 42(2), 2000, pp. 348-350
Citations number
25
Categorie Soggetti
Dermatology,"da verificare
Journal title
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
ISSN journal
01909622 → ACNP
Volume
42
Issue
2
Year of publication
2000
Part
2
Supplement
S
Pages
348 - 350
Database
ISI
SICI code
0190-9622(200002)42:2<348:AOOCDA>2.0.ZU;2-2
Abstract
We describe a family with the unusual association of Cowden's disease and B annayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneo us features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipomas, and vitiligo with involvement of the thyroid and d igestive tract. The son presents with pigmented macules of the penis, macro cephaly, and a lipoma that are typical for Bannaya-Riley-Ruvalcaba syndrome . Recent studies have demonstrated that these 2 diseases are allelic disord ers at the PTEN locus on chromosome 10q.