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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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
core +3 more sources
A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]
Clin Case RepABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M +6 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
doaj +1 more source
The epidthelial sodium channel ENaC and its regulators in the epidermal permeability barrier function [PDF]
, 2010 The highly amiloride-sensitive epithelial sodium channel ENaC is well known to be involved in controlling whole body sodium homeostasis and lung liquid clearance. ENaC expression has also been detected in the skin of amphibians and mammals.
Charles, R-P. +2 more
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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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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
doaj +1 more source
Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis
Nepal Journal of Dermatology, Venereology & LeprologyLamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar +2 more
doaj +1 more source
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
Indian Journal of Paediatric DermatologyLamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas +2 more
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