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Case Reports
. 2014 Mar 7:2014:bcr2013200884.
doi: 10.1136/bcr-2013-200884.

Harlequin ichthyosis: a case report of prolonged survival

Anwar A Mithwani  1 , Asif Hashmi, Shahid Shahnawaz, Yasser Al Ghamdi
Affiliations
Case Reports

Harlequin ichthyosis: a case report of prolonged survival

Anwar A Mithwani et al. BMJ Case Rep. .

Abstract

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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Figures

Figure 1
Figure 1
The patient soon after birth showing extensive areas of diamond-like skin plates and fissuring characteristic of harlequin ichthyosis.
Figure 2
Figure 2
The patient at the age of 3 months.
Figure 3
Figure 3
The patient at the age of 30 months.
Figure 4
Figure 4
The patient at the age of 7 years.
See this image and copyright information in PMC

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