Results 91 to 100 of about 72,798 (235)
British Journal of Health Psychology, Volume 30, Issue 1, February 2025.Abstract Objectives Skin conditions carry a substantial psychological burden but support for patients is limited. Digital technology could support patient self‐management; we found preliminary evidence for the effectiveness and acceptability of digital psychological interventions for adults living with skin conditions.
Rachael M. Hewitt +4 more
wiley +1 more source
Collodion Baby with TGM1 gene mutation
International Medical Case Reports Journal, 2015 Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D +4 more
doaj
Successful outcome of lamellar ichthyosis with oral retinoid therapy: A series of six cases
Indian Journal of Paediatric Dermatology, 2016 Lamellar ichthyosis (LI) is a rare skin disorder inherited as an autosomal recessive trait. Affected babies are born in a collodion membrane that sheds gradually revealing extensive scaling of the skin.
K Pratyusha, P Divya Sree, BSN Reddy
doaj +1 more source
Definitions, 2020 A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn.
Lamellar ichthyosis
semanticscholar +1 more source
Biological Effects of a Fine Fiber Film Treated With a Lotion to Improve Dry Skin
Skin Research and Technology, Volume 31, Issue 2-5, February-May 2025.ABSTRACT Background Dry skin is a universal skin concern that is often accompanied by itching, but moisturizers have not completely solved this issue. We found that the combination of a moisturizer (lotion) and an ultra‐thin film of fine fiber (FF) that we developed improved dry skin early, but the biological mechanism within the skin remained unclear.
Shun Sasaoka +6 more
wiley +1 more source
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
Disorders of fatty acid homeostasis
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Humans derive fatty acids (FA) from exogenous dietary sources and/or endogenous synthesis from acetyl‐CoA, although some FA are solely derived from exogenous sources (“essential FA”). Once inside cells, FA may undergo a wide variety of different modifications, which include their activation to their corresponding CoA ester, the introduction of
Frédéric M. Vaz +3 more
wiley +1 more source
LAMELLAR ICHTHYOSIS: ONE CASE REPORT
International Journal of Medical Reviews and Case Reports, 2019 Introduction: Ichthyosis is a heterogeneous group of skin disease characterized by generalized scaling. Lamellar ichthyosis is an autosomal recessive disorder with a mutation in the TGM 1 gene encodes the transglutaminase I protein was found. The scales reflect changes in epidermal differentiation.
openaire +3 more sources
Human genetic defects of sphingolipid synthesis
Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Sphingolipids are ubiquitous lipids, present in the membranes of all cell types, the stratum corneum and the circulating lipoproteins. Autosomal recessive as well as dominant diseases due to disturbed sphingolipid biosynthesis have been identified, including defects in the synthesis of ceramides, sphingomyelins and glycosphingolipids.
Patricia Dubot +2 more
wiley +1 more source
Infantile erythrodermic psoriasis: A case report and review of the literature
Indian Journal of Paediatric Dermatology, 2017 Erythroderma in infants can be attributed to plenty of causes, the more common ones being nonbullous congenital ichthyosiform erythroderma, lamellar ichthyosis, bullous congenital ichthyosiform erythroderma, severe atopic dermatitis, etc., However, there
Piyush Kumar, Anupam Das, Shvetha Jain
doaj +1 more source