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
Bullying in Children With Congenital Ichthyosis. [PDF]
Pediatr DermatolABSTRACTBackground/ObjectivesBullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM +6 more
europepmc +3 more sources
A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. [PDF]
Clin Case Rep, 2023 Key Clinical MessageCoexistence 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. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in ...
Shearer Z +5 more
europepmc +4 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
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents [PDF]
Journal of Investigative Dermatology, 2019 This is a letter to the ...
Guy Yealland +2 more
exaly +4 more sources
Autosomal Recessive Congenital Ichthyosis
Actas Dermo-sifiliográficas, 2013 The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby ...
Manuel Ginarte-Val
exaly +3 more sources