Bannayan-Riley-Ruvalcaba syndrome with gingival hyperpigmentation and facial papules.

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.