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What’s your diagnosis? Harlequin ichthyosis

Harlequin ichthyosis is associated with high morbidity and mortality in the past. However, fetal DNA analysis, 3 D facial antenatal ultrasound, and fetal skin biopsy significantly improved the diagnostic capabilities. The current advancement in treating these babies in level 3 neonatal intensive care units with a multidisciplinary team approach and early use of oral retinoids such as Acitretin, have made the outcomes better recently. Genetic counselling and prenatal screening are of vital importance after the birth of a baby with HI. In conclusion, it is necessary for the practicing clinicians to be aware of this diagnosis and the current management protocols if they come across a similar case.