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Case Reports
. 2024 Jan 12:2024:8729318.
doi: 10.1155/2024/8729318. eCollection 2024.

Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review

Emad Bahashwan  1 , Jaber Alfaifi  2 , Sahar Elmaghawri Mohamed Moursi  3 , Youssef Elbayoumi Soliman  4
Affiliations
Case Reports

Retinoid Therapy in a Case of Harlequin Ichthyosis with a Short Literature Review

Emad Bahashwan et al. Case Rep Dermatol Med. .

Abstract

Harlequin ichthyosis (HI) is a genetically inherited epidermal disorder due to the mutation of the ABCA12 gene, which is responsible for lipid transportation, and presents with large keratinised scales characterised by deep erythematous fissures, with ectropion and eclabium. A moderate number of cases and a high mortality rate have been recorded. In this case report, a pregnant lady gave birth to a 33-week-old premature foetus with characteristic symptoms of HI. After admitting him to the NICU, a multidisciplinary treatment approach was conducted with paediatric dermatologists, ophthalmologists, urologists, and dieticians. The prognosis is positive, with desquamation of the hyperkeratotic plate revealing an erythematous and shiny skin. A short literature review on HI characteristics, diagnostic aids, and management has also been added.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Figure 1
Figure 1
Normal keratinocyte differentiation and lipid transport.
Figure 2
Figure 2
Pathogenesis in Harlequin ichthyosis.
Figure 3
Figure 3
At birth.
Figure 4
Figure 4
At 2 months old.
See this image and copyright information in PMC

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