AI Article Synopsis
- Harlequin ichthyosis is a rare genetic condition that results in thick, scaly skin and problems with the eyelids.
- The disorder can lead to serious eye issues like dry eyes and corneal damage if not managed properly.
- In this case, a neonate with harlequin ichthyosis had initial eyelid defects, but careful treatment helped avoid severe eye complications.
Article Abstract
Harlequin ichthyosis is a rare congenital autosomal recessive disorder that causes hyperkeratosis or plate-like keratosis. Hyperkeratosis affects both upper and lower eyelids and causes defective eyelids. Lagophthalmos and persistent dry eye will cause desiccation of the cornea, possibly leading to complications such as ectropion, cornea ulceration, corneal perforation, etc. Harlequin ichthyosis requires regular ocular review to prevent ocular complications. In this child, he was born with defective eyelids, but subsequent management prevented the complications mentioned. This is a case of harlequin ichthyosis in a neonate from an ophthalmological point of view.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10538354 | PMC |
| http://dx.doi.org/10.7759/cureus.44320 | 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.
View Article and Find Full Text PDFGenetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis.
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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Department of Obstetrics and Gynaecology, Sardar Patel Medical College, Bikaner, Rajasthan 334001 India.
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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Ophthalmology, Regional Institute of Ophthalmology, Indira Gandhi Institute of Medical Sciences, Patna, Patna, IND.
Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely.
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