Study of Correlation of Severity and Quality of Life in Patients with Congenital Ichthyosis
Nepal Journal of Dermatology, Venereology & Leprology, 2022 Introduction: Congenital ichthyosis is a disorder of cornification of skin with various cutaneous symptoms. Quality of life is a subjective perception of patients regarding their disease status and treatment received.
Priyanka Hemrajani +3 more
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Indian Journal of Paediatric Dermatology, 2018 Bathing suit ichthyosis (BSI) is a rare, autosomal recessive form of congenital ichthyosis. The phenotypic expression of this unique form of ichthyosis is limited to the involvement of bathing suit area owing to the temperature-sensitive mutation of ...
Sahana M Srinivas +2 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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Distinct skin microbiome community structures in congenital ichthyosis. [PDF]
Br J Dermatol, 2022 Background: 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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Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs [PDF]
Frontiers in Pharmacology, 2023 Hernán Cortes +2 more
exaly +2 more sources
Congenital Ichthyosis: A Practical Clinical Guide on Current Treatments and Future Perspectives. [PDF]
Clin Cosmet Investig Dermatol, 2023 Evelyn Lilly,1 Christopher G Bunick2 1Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA; 2Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT ...
Lilly E, Bunick CG.
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Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis. [PDF]
J Obstet Gynaecol India, 2019 Kataria S, Ajmani SN.
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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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