Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.
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http://dx.doi.org/10.1111/pde.13770 | DOI Listing |
Cureus
November 2024
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.
View Article and Find Full Text PDFClin Exp Dermatol
November 2024
Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
ABCA12 is crucial for skin barrier function and traditionally linked to severe congenital ichthyosis, such as harlequin ichthyosis. However, its genotype-phenotype relationship may be more nuanced. Using whole-exome sequencing and Sanger sequencing, we identified four cases of mild ichthyosis with biallelic ABCA12 pathogenic variants.
View Article and Find Full Text PDFJAMA Dermatol
December 2024
Department of Dermatology, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.
Cureus
September 2024
Dermatology, Al Dhannah Hospital, Abu Dhabi, ARE.
Mol Ther Methods Clin Dev
September 2024
Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.
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