Results 61 to 70 of about 517,181 (258)
Ichthyosis in Dogs—Congenital Dermatologic Disorder [PDF]
Folia Veterinaria, 2021 Abstract The skin provides protective functions, such as thermoregulation, resorption, provision of immune responses, storage and sensory functions, which all play an important role in the internal stability of the organism. The skin has 3 major layers: the epidermis, the dermis and subcutis.
Z. Malinovská, E. Čonková
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Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
Journal of Pediatric and Neonatal Individualized Medicine, 2019 In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin +3 more
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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 ...
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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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Prevalence of inherited ichthyosis in France: a study using capture-recapture method [PDF]
, 2014 International audienceBACKGROUND:Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. Epidemiology remains poorly described.
Barbarot, Sebastien +13 more
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I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
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The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]
Vestnik Dermatologii i Venerologii, 2023 Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
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Journal of the European Academy of Dermatology and Venereology, 2021 Autosomal‐recessive congenital ichthyosis (ARCI) is a heterogeneous group of ichthyoses presenting at birth. Self‐improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after ...
L. Hake +11 more
semanticscholar +1 more source
Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]
, 2012 Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M +12 more
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