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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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
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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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DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects [PDF]
BMC Veterinary Research, 2022 Background Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis
Irene M. Häfliger +6 more
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Indian Journal of DermatologyBackground: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan +5 more
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Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother [PDF]
SAGE Open Medical Case ReportsWe present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry +2 more
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Ichthyosis (concept, pathohistology, clinical picture, treatment)
Vestnik Dermatologii i Venerologii, 2021 Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova +3 more
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Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
罕见病研究, 2023 Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases
LIU Juan +6 more
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Harlequin Ichthyosis: Prenatal Diagnosis of a Rare Yet Severe Genetic Dermatosis [PDF]
Journal of Clinical and Diagnostic Research, 2015 Harlequin Ichthyosis (HI) is an extremely rare genetic skin disorder. It is the most severe type of ichthyosis. It is characterized by thickened, dry, rough and armor like plates of skin with deep cracks in between.
Swati Rathore +4 more
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Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India
Indian Journal of Dermatology, 2017 Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh +4 more
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