| Literature DB >> 35435396 |
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