Results 21 to 30 of about 766 (133)
Congenital icthyosis: A case report [PDF]
Clinical Research and Trials, 2017 Congenital Ichyosis is relatively uncommon disease but is the most common cause of Collodian baby. Early diagnosis is required for immediate management and prevention of fluid-electrolyte balance as well as prevention of secondary infections.
R. Pandey
semanticscholar +2 more sources
Congenital Lamellar Icthyosis (Collodion Baby)
Journal of Nepal Paediatric Society, 2011 Lamellar ichthyosis, also known as ichthyosis lammellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people the images of this rare variety of skin disorder has been presented here.
B. Baghel, B. Baghel
semanticscholar +3 more sources
Squamous Cell Carcinoma of Endometrium with Extensive Icthyosis Uteri
Online Journal of Health & Allied Sciences, 2011 We report a rare case of squamous cell carcinoma of endometrium arising in icthyosis uteri in a 60 years old lady presenting with vaginal bleeding.
Amita K,, Padmini J,
doaj +1 more source
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
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 +1 more source
Indian Journal of Ophthalmology. Case Reports, 2021 We describe the clinical features of a rare congenital ectodermal dysplasia - Keratitis Icthyosis Deafness (KID) syndrome in a 45-year-old female patient, who presented with corneal neovascularization and advanced cataract in both eyes.
Monika Balyan +2 more
doaj +1 more source
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
Síndrome de Netherton: relato de caso
Residência Pediátrica, 2023 INTRODUCTION: Netherton Syndrome (NS), one of the most serious disorders of cornification, is an autosomal recessive disease characterized by a mutation in the SPINK5 gene on chromosome 5q32.
Sabrina Hernandes Conceição +3 more
doaj +1 more source
Case Reports in Immunology, Volume 2020, Issue 1, 2020., 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 ...
Ali Al Maawali +7 more
wiley +1 more source