Harlequin fetus: A case report

Area of Science:

• Dermatology and Genetics: Focuses on rare genetic skin disorders.

Background:

• Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis, a group of rare genetic skin disorders.
• It follows an autosomal recessive inheritance pattern, with very few cases documented in India.
• Antenatal diagnosis is crucial and can be achieved through ultrasonography and molecular studies on chorionic villus sampling or amniocentesis.

Observation:

• A case of Harlequin ichthyosis in a neonate is presented.
• Diagnosis was established postnatally through clinical examination and histopathological analysis of a skin biopsy.
• The infant received intensive supportive care but unfortunately did not survive beyond the second day of life.

Findings:

• Confirms the rarity of Harlequin ichthyosis in the Indian subcontinent.
• Demonstrates the utility of postnatal clinical and histopathological correlation for diagnosing HI.
• Underscores the severe prognosis and challenges in managing this condition, even with intensive care.

Implications:

• Highlights the need for increased awareness and improved diagnostic strategies for congenital ichthyosis in India.
• Emphasizes the importance of genetic counseling for families with a history of autosomal recessive disorders.
• Suggests further research into potential therapeutic interventions or improved supportive care for severe HI cases.