Results 21 to 30 of about 632 (150)
Novel Compound Heterozygous Mutations of TGM1 Gene Identified in a Turkish Collodion Baby Diagnosed with Non-Bullous Congenital Ichthyosiform Erythroderma. [PDF]
Ann Dermatol, 2023 Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit ...
Gülnerman EK +10 more
europepmc +2 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
Case Report: Sjogren-Larsson Syndrome: Two Cases from One Family
Journal of Rehabilitation, 2006 Sjogren–Larsson Syndrome (SLS) is an autosomal recessive disorder characterized by generalized Ichthyosis, mental retardation, spastic diplegia or tetraplegia and epilepsy.
Parvaneh Karim-Zadeh
doaj +1 more source
Online Journal of Health & Allied Sciences, 2014 Primary squamous cell carcinoma of the endometrium is exceedingly rare. We report a case of 52 years old postmenopausal woman who presented with pelvic pain of four months duration. Gynecologic examination revealed a normal cervix.
Pailoor K +5 more
doaj +1 more source
Skin changes in patients with chronic renal failure
Saudi Journal of Kidney Diseases and Transplantation, 2011 Management of patients with renal failure remains a major problem in poor-resource nations. Cutaneous manifestations in this group of patients are varied and remain helpful in differentiating acute from chronic renal failure (CRF).
Olarenwaju Falodun +3 more
doaj +1 more source
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
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 Dermatology, 2004 The occurrence of atopic diathesis in hereditary ichthyosis (HI) has not been documented in Saudi patients. The atopic manifestations in histopathologically confirmed HI patients attending the dermatology clinic of king Fahad Hospital of the University ...
Al-Akloby Omar M Al-Amro
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