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Year : 2022  |  Volume : 1  |  Issue : 3  |  Page : 76-78

An antenatally missed case of harlequin ichthyosis: Report of a rare case and review of literature

1 Department of Pathology, Sri Lakshmi Narayana Institute of Medical Sciences (SLIMS), Puducherry, India
2 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India
3 Department of OBG, All India Institute of Medical Sciences (AIIMS), Mangalagiri, Andhra Pradesh, India

Correspondence Address:
Dr. Thirunavukkarasu Arun Babu
Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Mangalagiri 522503, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/pedc.pedc_16_23

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Newborns are particularly susceptible to severe illnesses during the early neonatal period due to various causes. To anticipate congenital diseases in babies before birth and ensure prompt management, it is crucial to gather a detailed medical history, conduct a thorough clinical examination, and perform antenatal ultrasound examinations of the mother. However, certain rare genetic disorders such as harlequin ichthyosis, characterized by thick generalized hyperkeratotic scaling and deep fissuring of the skin, cannot be detected through routine antenatal investigations. This condition often leads to neonatal death in the early days of life and poses significant emotional distress for the parents. We present a case of a newborn displaying symptoms of harlequin ichthyosis who passed away shortly after birth to emphasize the importance of recognizing this condition during the antenatal period, even when routine investigations do not reveal its presence.

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