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CASE REPORT
Harlequin ichthyosis: a case report of prolonged survival
  1. Anwar A Mithwani1,
  2. Asif Hashmi2,
  3. Shahid Shahnawaz2,
  4. Yasser Al Ghamdi3
  1. 1Department of Pediatrics, Armed Forces Hospital, Jubail, Eastern, Saudi Arabia
  2. 2Department of Medicine, Armed Forces Hospital, Jubail, Eastern, Saudi Arabia
  3. 3Department of Family Community Medicine, Armed Forces Hospital, Jubail, Eastern, Saudi Arabia
  1. Correspondence to Dr Anwar Adil Mithwani, dmithwani{at}hotmail.com

Summary

Harlequin ichthyosis (HI) is a rare type of congenital ichthyosis associated with poor survival. We report, with photographic record, a male baby born with HI. To the best of our knowledge, this is the first reported case of HI in Saudi Arabia, where the child has survived beyond 7 years. The baby was born at 37 weeks of gestation from consanguineous parents with no inherited skin disorder in the family. The mother was 28 years old with three normal previous pregnancies and healthy babies. At birth, the baby's skin had thick scales separated by deep fissuring. He was managed in intensive care with supportive treatment and frequent application of lubricants, emollients and urea cream. The skin gradually became softened, and began to shed after 6 weeks. After 8 months of inpatient management, he was discharged. He is currently 7 years old and is still being treated for non-bullous congenital ichthyosiform erythroderma.

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