Harlequin Ichthyosis Baby with Coagulase Negative Staphylococcus Infection: A Case Report

Andi Dwi Bahagia Febriani; Fitrayani Hamzah

doi:10.3889/oamjms.2022.8524

Authors

Andi Dwi Bahagia Febriani Departement of Pediatrics, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia; Dr. Wahidin Sudirohusodo General Hospital, Makassar, Indonesia https://orcid.org/0000-0001-6076-9995
Fitrayani Hamzah Departement of Pediatrics, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia

DOI:

https://doi.org/10.3889/oamjms.2022.8524

Keywords:

Harlequin ichthyosis, Autosomal recessive, Skin abnormalities

Abstract

Harlequin ichthyosis (HI) is a rare genetic disease caused by the lipid transporter gene ABCA12 mutation. The incidence is 1 in 300,000 live births. Clinically, the skin's keratin layer thickens to form a geometric pattern resembling a Harlequin clown costume. The mortality rate was high, mainly caused by infections and metabolic abnormalities. We report a case of HI in a preterm baby girl with signs of respiratory distress and sepsis that can survive for 4 months.

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