The pH of the skin surface and its impact on the barrier function [PDF]
, 2006 The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D +41 more
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Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]
, 1991 The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.) +4 more
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Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
Case Reports in Dentistry, 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar +5 more
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Lamellar Icthyosis – A case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V +3 more
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A case of lamellar ichthyosis with rickets and carcinoma of the hypopharynx.
Indian J Dermatol, 2014 Bubna AK +3 more
europepmc +2 more sources
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 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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Dermatodendrosophy and dermatokarposophy – A bird's eye view
Clinical Dermatology Review, 2022 Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki +1 more
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Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]
, 2019 Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified,
Ahmad, Jamil +16 more
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Ocular complications of lamellar ichthyosis
Archives of Medicine and Health Sciences, 2018 Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj +1 more source