Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy-Reference-Cited by-同舟云学术

Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

Published:2024-04-15 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Camiña‐Conforto Gemma¹^ORCID,Ivars Marta²,Sarquella‐Brugada Georgia³,Valera‐Dávila Carlos⁴,Salvador Héctor⁵,Rovira Carlota⁶,Baselga Eulalia²

Affiliation:

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

Abstract

AbstractPhacomatosis 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.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15632

Reference17 articles.

1. Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell

2. Phacomatosis pigmentokeratotica: Postzygotic HRAS mutation with malignant degeneration of the sebaceous naevus

3. Phacomatosis pigmentokeratotica: A very rare twin spotting phenomenon

4. Phacomatosis pigmentokeratotica or the Schimmelpenning‐Feuerstein‐Mims syndrome?