Literature DB >> 10640930

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

J Perriard1, J H Saurat, M Harms.   

Abstract

We describe a family with the unusual association of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome. The father has characteristic mucocutaneous features that are palmoplantar keratoses, multiple facial papules, oral papillomatoses, lipomas, and vitiligo with involvement of the thyroid and digestive tract. The son presents with pigmented macules of the penis, macrocephaly, and a lipoma that are typical for Bannaya-Riley-Ruvalcaba syndrome. Recent studies have demonstrated that these 2 diseases are allelic disorders at the PTEN locus on chromosome 10q.

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Year:  2000        PMID： 10640930     DOI： 10.1016/s0190-9622(00)90109-9

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


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