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

Open | Download

PDF (Spanish) FLIP HTML (Spanish) EPUB (Spanish) application/xml XML (Spanish)

Issue

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

Section

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

DOI

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

Dimensions

PlumX

license

Felisa B Carvajalino

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

Laura F Peña

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

Show authors biography

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.

Article visits 2467 | PDF visits 1300

Downloads

Download data is not yet available.

1. Salehin S, Azizimoghadam A, Abdollahimohammad A, Babaeipour- Divshali M. Harlequin ichthyosis: Case report. Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences. 2013;18(11):1004-5. Epub 2014/02/13.
2. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. American journal of human genetics. 2005;76(5):794-803. Epub 2005/03/10.
3. Harvey HB, Shaw MG, Morrell DS. Perinatal management of harlequin ichthyosis: a case report and literature review. Journal of perinatology: official journal of the California Perinatal Association. 2010;30(1):66-72. Epub 2009/12/30.
4. Richard G. Autosomal Recessive Congenital Ichthyosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews((R)). Seattle (WA)1993.
5. Holden S, Ahuja S, Ogilvy-Stuart A, Firth HV, Lees C. Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound. Prenatal diagnosis. 2007;27(6):566-7. Epub 2007/03/28.
6. Hazuku T, Yamada K, Imaizumi M, Ikebe T, Shinoda K, Nakatsuka K, et al. Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis. Case reports in ophthalmology. 2011;2(1):73-7. Epub 2011/04/09.
7. Prendiville J. Harlequin Ichthyosis Medication. Medscape; 2016 [cited 2016 septiembre 4]; Available from: https://emedicine. medscape.com/article/1111503-medication.
8. Rajpopat S, Moss C, Mellerio J, Vahlquist A, Ganemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Archives of dermatology. 2011;147(6):681-6. Epub 2011/02/23.
9. Craiglow BG. Ichthyosis in the newborn. Seminars in perinatology. 2013;37(1):26-31. Epub 2013/02/20.