Bannayan‐Riley‐Ruvalcaba syndrome with gingival hyperpigmentation and facial papules. Issue 5 (14th July 2021)

• Record Type: Journal Article
• Authors: Niklinska, Eva B.; Lyons, Eden Marie; Hicks, Alexander; Zwerner, Jeffrey P.; Albers, Sharon E.
• Is Part Of: Pediatric dermatology. Volume 38:Issue 5(2021)
• Page Start: 1351
• Page End: 1353
• Publication Date: 2021-07-14
• Subjects: Bannayan‐Riley‐Ruvalcaba syndrome -- Cowden syndrome -- genodermatoses -- PTEN hamartoma tumor syndrome; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14691
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: One of the distinctive cutaneous manifestations of Bannayan‐Riley‐Ruvalcaba syndrome (BRRS), a PTEN hamartoma tumor syndrome, is penile pigmented macules. We present a 13‐year‐old boy with gingival hyperpigmentation along with facial and ear angiofibromas in the context of a BRRS‐concordant phenotype and PTEN hamartoma tumor syndrome genotype. To our knowledge, these two findings have not been previously reported with BRRS and may expand the known phenotype of this disorder.