Hypernatremia in congenital lamellar ichthyosis
The Journal of Pediatrics, 1979 B Z, Garty, A, Metzker, M, Nitzan
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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
doaj +1 more source
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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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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A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]
, 2012 Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Beier, David R. +6 more
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Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
, 2011 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 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
doaj +1 more source
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Balkan Journal of Medical Genetics, 2023 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T +6 more
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Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity [PDF]
, 2017 Heritable forms of ichthyoses, also referred to as generalized Mendelian disorders of cornification, are phenotypically a highly heterogeneous group of conditions caused by mutations in a number of genes playing a role in keratinocyte differentiation ...
Abiri, Maryam +12 more
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