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

Eva B Niklinska; Eden Marie Lyons; Alexander Hicks; Jeffrey P Zwerner; Sharon E Albers

doi:10.1111/pde.14691

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

Pediatr Dermatol. 2021 Sep;38(5):1351-1353. doi: 10.1111/pde.14691. Epub 2021 Jul 14.

Authors

Eva B Niklinska¹, Eden Marie Lyons¹, Alexander Hicks², Jeffrey P Zwerner², Sharon E Albers²

Affiliations

¹ Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
² Department of Dermatology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

PMID: 34259361
DOI: 10.1111/pde.14691

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.

Keywords: Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; PTEN hamartoma tumor syndrome; genodermatoses.

Publication types

Case Reports

MeSH terms

Adolescent
Genotype
Hamartoma Syndrome, Multiple*
Humans
Hyperpigmentation* / diagnosis
Hyperpigmentation* / genetics
Male
PTEN Phosphohydrolase / genetics
Phenotype

Substances

PTEN Phosphohydrolase