Congenital ichthyosis presentation and outcome - A case series [PDF]
Journal of Family Medicine and Primary Care, 2023 The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari +3 more
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Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs. [PDF]
Front Pharmacol, 2023 Autosomal recessive congenital ichthyoses (ARCI) are a skin pathology due to genetic causes characterized by a variable degree of desquamation, accompanied by erythema.
Peña-Corona SI +5 more
europepmc +2 more sources
Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. [PDF]
Clin Cosmet Investig Dermatol, 2023 Congenital ichthyoses are a group of hereditary disorders of keratinization that are challenging to treat. Affected individuals suffer not only from thickening of the skin but also associated complications such as growth restriction, hearing and eye ...
Lilly E, Bunick CG.
europepmc +2 more sources
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]
Genes (Basel), 2023 Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin.
Hotz A +20 more
europepmc +2 more sources
Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit. [PDF]
BMJ Case Rep, 2023 Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin,
Dias JV, Cardoso K, Prado SN, Cavaco H.
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PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. [PDF]
Metabolites, 2022 The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique heterogeneous ceramides, especially ω-O-acylceramides, are key components for the formation of stable lamellar membrane structures in the stratum corneum and are ...
Zeng F, Qin W, Huang F, Chang P.
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Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]
Ital J Pediatr, 2022 Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Serra G +7 more
europepmc +2 more sources
Congenital ichthyosis in a Maltese dog: A case report [PDF]
Veterinární Medicína, 2021 This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS +5 more
doaj +2 more sources
CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]
Cureus, 2022 Autosomal recessive congenital ichthyosis (ARCI) is a group of hereditary, nonsyndromic disorders of keratinization. ARCI encompasses several different clinical presentations and is caused by various genetic mutations. Commonly, ARCI presents with a taut,
Dumenigo A, Rusk A, Marathe K.
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Distinct skin microbiome community structures in congenital ichthyosis. [PDF]
Br J Dermatol, 2022 The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections.
Tham KC +16 more
europepmc +2 more sources