Pseudoxanthoma Elasticum: Case Report

  • Maria Fernanda Gomes Médica Residente/Resident, Serviço de Dermatologia do Complexo Hospitalar Heliópolis, São Paulo, Brasil
  • Vinícius Broseghini Pinto Médico Residente/Resident, Serviço de Dermatologia do Complexo Hospitalar Heliópolis, São Paulo, Brasil
  • Gabrielli Saab Oliveira de Caprio Médico Residente/Resident, Serviço de Dermatologia do Complexo Hospitalar Heliópolis, São Paulo, Brasil
  • Isabella Lemos Baltazar Médica Fellow/Consultant, Serviço de Dermatologia do Complexo Hospitalar Heliópolis, São Paulo, Brasil
Keywords: Angioid Streaks, Calcinosis, Multidrug Resistance-Associated Proteins/genetics, Pseudoxanthoma Elasticum, Skin

Abstract

Pseudoxanthoma Elasticum (PXE) is a rare hereditary autosomal recessive disorder with a molecular defect in the ABCC6 gene. This dysfunction causes accumulation of calcium that causes degeneration of the elastic fibers, mainly in the eyes, cardiovascular system and skin. The case of a 61-year-old patient with PXE, with decreased visual acuity for 5 years and asymptomatic yellowish papules in the underarms and neck for 30 years is presented.

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Published
2017-04-17
How to Cite
Gomes, M. F., Broseghini Pinto, V., Saab Oliveira de Caprio, G., & Lemos Baltazar, I. (2017). Pseudoxanthoma Elasticum: Case Report. Journal of the Portuguese Society of Dermatology and Venereology, 75(1), 93-96. https://doi.org/10.29021/spdv.75.1.725
Section
Case Reports