Literature DB >> 35435396

Harlequin fetus: A case report.

Mangesh Machindra Londhe1, Tushar Vitthalrao Patil1, Kishor Hiraman Suryawanshi1.   

Abstract

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.

Entities:  

Keywords:  Harlequin Ichthyosis; histopathology; rare

Mesh:

Year:  2022        PMID: 35435396     DOI: 10.4103/IJPM.IJPM_1150_20

Source DB:  PubMed          Journal:  Indian J Pathol Microbiol        ISSN: 0377-4929            Impact factor:   0.740


  1 in total

Review 1.  Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.

Authors:  Maria Tsivilika; Dimitrios Kavvadas; Sofia Karachrysafi; Antonia Sioga; Theodora Papamitsou
Journal:  Children (Basel)       Date:  2022-06-15
  1 in total

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