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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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
doaj +2 more sources
Developmental cataract in congenital ichthyosis. [PDF]
BMJ Case Rep, 2023 A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in the right eye and 20/40 in the left eye. Clinical examination revealed developmental cataracts in both eyes.
Dandekar P, Chaurasia S.
europepmc +3 more sources
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
doaj +2 more sources
Autosomal Recessive Congenital Ichthyosis [PDF]
Journal of Investigative Dermatology, 2009 Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et ...
Hubert Scharnagl +199 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
core +9 more sources
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
doaj +2 more sources
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
doaj +2 more sources
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 +2 more sources