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

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.

journal_name

J Am Acad Dermatol

authors

Perriard J,Saurat JH,Harms M

doi

10.1016/s0190-9622(00)90109-9

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

348-50

issue

2 Pt 2

eissn

0190-9622

issn

1097-6787

pii

S0190-9622(00)90109-9

journal_volume

42

pub_type

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