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
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.

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References

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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
Section
Case Reports