Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

Gemma Camiña-Conforto; Marta Ivars; Georgia Sarquella-Brugada; Carlos Valera-Dávila; Héctor Salvador; Carlota Rovira; Eulalia Baselga

doi:10.1111/pde.15632

Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

Pediatr Dermatol. 2024 Apr 15. doi: 10.1111/pde.15632. Online ahead of print.

Authors

Gemma Camiña-Conforto¹, Marta Ivars², Georgia Sarquella-Brugada³, Carlos Valera-Dávila⁴, Héctor Salvador⁵, Carlota Rovira⁶, Eulalia Baselga²

Affiliations

¹ Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
² Department of Dermatology, Inherited Cardiac Diseases and Sudden Death Unit, Barcelona, Spain.
³ Department of Arrhythmia, Inherited Cardiac Diseases and Sudden Death Unit, Barcelona, Spain.
⁴ Department of Neurology, Hospital Sant Joan de Déu de Barcelona, Barcelona, Spain.
⁵ Department of Pediatric Oncology, Hospital Sant Joan de Déu de Barcelona, Barcelona, Spain.
⁶ Department of Pathology, Hospital Sant Joan de Déu de Barcelona, Barcelona, Spain.

PMID: 38621679
DOI: 10.1111/pde.15632

Abstract

Phacomatosis pigmentokeratotica (PPK) is a RASopathy characterized by the presence of a sebaceous nevus and a papular speckled lentiginous nevus. This case report highlights the associated extracutaneous comorbidities, including life-threatening arrhythmia, and introduces topical rapamycin as a potential therapeutic avenue for sebaceous nevus in PPK patients.

Keywords: genetic diseases/mechanisms; genodermatoses; topical therapy.

Publication types

Case Reports