Indian Journal of Pathology and Microbiology (Jan 2022)

Harlequin fetus: A case report

  • Mangesh Machindra Londhe,
  • Tushar Vitthalrao Patil,
  • Kishor Hiraman Suryawanshi

DOI
https://doi.org/10.4103/IJPM.IJPM_1150_20
Journal volume & issue
Vol. 65, no. 2
pp. 462 – 464

Abstract

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Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based molecular studies on chorionic villus sampling, and amniocentesis has been emphasized. We report a new case of HI in an infant, diagnosed postnatally by correlation of clinical and histopathological features on skin biopsy. The infant succumbed on the second day of birth despite intensive supportive care. A short review of the literature regarding the condition is also presented.

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