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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| http://dx.doi.org/10.1136/bcr-2013-200884 | DOI Listing |
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Harlequin ichthyosis is a rare skin disorder affecting newborns characterized by a scaly skin, flexed limbs, ectropium, and eclabium. The overall incidence of HI is 1 in 300,000 births, with approximately only 200 cases reported worldwide. Some studies uncovered a TH17 immune skewing in patients with HI, which is also seen in psoriasis.
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Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
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J Obstet Gynaecol India
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A novel variant c.7104 + 6T > A of linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay.
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Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Ningbo University, Ningbo, Zhejiang, China.
Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.
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