Harlequin Ichthyosis: Case Report

  • Patrícia A. Couto Hospital Universitário Getúlio Vargas, Manaus, Brazil http://orcid.org/0000-0001-5870-4105
  • Marcela C. Pastore Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Jessica C. N. Araújo Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Cecilya M. Mota Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Caroline A. R. Chirano 1Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Valeria K. A. Ferreira Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Sidharta Q. Gadelha Athoderma Clinic, Manaus, Brazil
  • Elaine D. Melo Fundação de Dermatologia Tropical e Venereologia Alfredo da Matta, Manaus, Brazil
  • Patricia C. B. de Melo Hospital Universitário Getúlio Vargas, Manaus, Brazil
  • Luciana M. Santos 1Hospital Universitário Getúlio Vargas, Manaus, Brazil
DOI: https://doi.org/10.29021/spdv.77.1.984
Keywords: ATP-Binding Cassette Transporters, Ichthyosis, Lamellar, Infant, Newborn

Abstract

Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies. Although several complications related to the skin restriction may occur, support in intensive care and early introduction of systemic retinoids, such as acitretin, have significantly contributed to patients' survival and improved prognosis. The purpose of this report is to present a rare case of harlequin ichthyosis and to discuss strategies for early diagnosis and first supportive care.

Downloads

Download data is not yet available.

References

Mitchell A. Pet, Deepti Gupta e Raymond W. Tse , Harlequin Ichthyosis: A Surgical Perspective. Pediatric Dermatology Vol. 33 No. 5, e327–e332, 2016.

- Ahmed H, O'Toole EA. Recent Advances in the Genetics and Management of Harlequin Ichthyosis. Pediatric Dermatology Vol. 31 No. 5, 2014.

- Sadashiva Ukkali, Veena Patil, Emad A. Rajgoli, Jafar Moideen Kutty, Mohammed Zeeshan Desai. Harlequin Ichthyosis: A Case Report. Journal of Evolution of Medical and Dental Sciences 2015; Vol. 4, Issue 91, November 12; Page: 15700-15701.

Prendiville J. Harlequin ichthyosis [Internet]. [Updated 2008 Oct 21]. Available from: http://emedicine.medscape.com/article/ 1111503- overview.

W. Jian et al. Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family. Taiwanese Journal of Obstetrics & Gynecology 57 (2018) 452-455.

Glick JB, Craiglow BG, Choate KA, et al. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. 2017;139(1):e20161003

Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis: a review of clinical and molecular fi ndings in 45 cases. Arch Dermatol. 2011;147(6):681–686.

Published
2019-03-26
How to Cite
Couto, P. A., Pastore, M. C., Araújo, J. C. N., Mota, C. M., Chirano, C. A. R., Ferreira, V. K. A., Gadelha, S. Q., Melo, E. D., de Melo, P. C. B., & Santos, L. M. (2019). Harlequin Ichthyosis: Case Report. Journal of the Portuguese Society of Dermatology and Venereology, 77(1), 55-58. https://doi.org/10.29021/spdv.77.1.984
Issue
Vol 77 No 1 (2019): January / March
Section
Case Reports

All articles in this journal are Open Access under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).