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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A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. [PDF]
Clin Case Rep, 2023 Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management.
Shearer Z +5 more
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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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Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis [PDF]
Frontiers in Dental MedicineCongenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired.
Ryoko Hino +7 more
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Novel Homozygous Mutations in the Genes TGM1, SULT2B1, SPINK5 and FLG in Four Families Underlying Congenital Ichthyosis. [PDF]
Genes (Basel), 2021 Background: Ichthyoses are a large group of hereditary cornification disorders, which are both clinically and etiologically heterogeneous and affect mostly all the skin surface of the patients. Ichthyosis has its origin in an ancient Greek word “ichthys”
Fozia F +11 more
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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.
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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
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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
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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
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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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