Ictiosis arlequín, una genodermatosis devastadora

Felisa B Carvajalino; Laura F Peña

doi:10.31260/RepertMedCir.v27.n1.2018.132

Harlequin Ichthyosis, one devastating genodermatosis

Ictiosis arlequín, una genodermatosis devastadora

Published 2018-04-17

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Vol. 27 No. 1 (2018): Janaury - April

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Case Reports

How to Cite

Carvajalino, F. B., & Peña, L. F. (2018). Harlequin Ichthyosis, one devastating genodermatosis. Journal of Medicine and Surgery Repertoire, 27(1), 44-46. https://doi.org/10.31260/RepertMedCir.v27.n1.2018.132

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https://doi.org/10.31260/RepertMedCir.v27.n1.2018.132

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Felisa B Carvajalino

University Foundation of Health Sciences, Bogotá D.C., Colombia

Laura F Peña

CIS Specialized Clinical Laboratory. Ocaña Norte de Santander, Colombia.

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harlequin ichthyosis

genodermatosis

autopsies

Harlequin ichthyosis is the most severe and aggressive presentation of congenital ichthyosis. It is an extremely rare autosomal recessive genetic disorder with a fatal outcome in most cases; harlequin infants usually die in the first few days of life secondary to infection and dehydration among other complications. Prenatal diagnosis remains difficult and adequate care may enhance survival. We report a female harlequin infant born to a mother with a history of harlequin fetus.

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