Results 11 to 20 of about 888 (167)
Estimating the Frequency of Hanifin and Rajka’s Minor Criteria among Paediatric Atopic Cases at a Tertiary Care Hospital in Western Tamil Nadu, India- A Cross-sectional Study [PDF]
Indian Journal of Neonatal Medicine and Research, 2023 Introduction: Atopic Dermatitis (AD) is a common relapsing inflammatory disorder, among the paediatric population clinically, characterised by pruritus and recurring eczematous skin lesions and a host of other cutaneous changes.
K Gopalakrishnan +6 more
doaj +3 more sources
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation. [PDF]
Skin Health Dis, 2021 Abstract Erythrokeratoderma Variabilis (EKV) is a rare genodermatosis, characterized by variable erythematous and hyperkeratotic skin lesions. It is most often transmitted in autosomal dominant manner (AD). Casual mutations were found in the GJB3 and GJB4 genes encoding connexins 31 and 30.3, respectively.
Shah M, Baral S, Adhikari RC.
europepmc +2 more sources
The Most Common Dermatological Findings In Atopic Dermatitis [PDF]
Diyala Journal of Medicine, 2018 Background: Atopic dermatitis (AD) is a common, chronic, relapsing, itchy, skin condition occurring in patients with a personal or family history of atopy. It varies widely in clinical presentation at different ages and places.
Hasan Nasir AL-Musawi
doaj +4 more sources
HARLEQUIN ICTHYOSIS: A RARE DISORDER
Indian Journal of Case Reports, 2016 Harlequin ichthyosis (HI) is the rarest and the most severe form of congenital ichthyosis. It is inherited in an autosomal recessive manner and associated with mutations in gene ABCA12. There have been reports of several families with siblings affected with harlequin icthyosis.
Sharmila Ramteke +2 more
+9 more sources
An unusual case of keratinopathic icthyosis: a diagnostic conundrum [PDF]
Dermatology Online Journal, 2021 Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice.
Shajil, Chandana +3 more
openaire +4 more sources
Harlequin Ichthyosis: report of three cases
GAIMS Journal of Medical Sciences, 2022 Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period.
Rekha Thaddanee +2 more
doaj +1 more source
IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom. [PDF]
Case Reports Immunol, 2020 IPEX (immune dysregulation‐polyendocrinopathy‐enteropathy‐X‐linked) syndrome is a rare, potentially fatal multisystem disorder caused by mutations in the FOXP3 gene. This can lead to quantitative or functional deficiency of regulatory T cells (Treg), thereby affecting their immune‐suppressive actions which can in turn cause autoimmune and inflammatory ...
Al Maawali A +6 more
europepmc +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 3, Page 377-398, September 2022., 2022 Abstract Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological injury occurring from a variety of causes. The exact pathogenesis has yet to be fully elucidated but is likely varied based on the type of injury and the primary target of that injury.
Meenakshi Sambharia +2 more
wiley +1 more source
Cutaneous Adverse Reactions Due to Antineoplastic Agents [PDF]
, 2023 Background- Cancer is a leading cause of mortality and morbidity in the world. Traditional as well as the newer targeted antineoplastic agents are associated with a wide array of Cutaneous Adverse Reactions (CARs).
Anuj Kothari, Chetna Gahlot, Kunal Jain, Rohit J. Rebello
core +2 more sources
The metabolomics of psoriatic disease. [PDF]
, 2017 Metabolomics is an emerging new "omics" field involving the systematic analysis of the metabolites in a biologic system. These metabolites provide a molecular snapshot of cellular activity and are thus important for understanding the functional changes ...
Afifi, Ladan +6 more
core +4 more sources