Results 21 to 30 of about 530 (127)
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
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
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
An unusual case of keratinopathic icthyosis: a diagnostic conundrum [PDF]
, 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 ...
Shajil, Chandana +3 more
core +2 more sources
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2‐Year‐Old Patient
Case Reports in Dentistry, Volume 2014, Issue 1, 2014., 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns. Although these disorders affect tissues of epidermal origin, there is little evidence regarding the oral and dental manifestations of Lamellar Ichthyosis.
Kavitha Ramar +6 more
wiley +1 more source
Netherton’s Syndrome: An Ultrastructural Study: Case Report
, 2010 Hair samples taken from 12-year-old boy prediagnosed with Netherton's syndrome were evaluated by using light and electron microscopic methods. Hair samples were prepared according to routine electron microscopic procedures.
Emine Elif GÜZEL +12 more
core +2 more sources
Clinical and Translational Medicine, Volume 2, Issue 1, December 2013., 2013 Abstract Background Previous studies of epidermal kinetics in psoriasis have relied on invasive biopsy procedures or the use of radioactive labels. We previously developed a non‐invasive method for measuring keratin synthesis in human skin using deuterated water labeling, serial collection of tape strips and measurement of deuterium enrichment in ...
Claire L Emson +7 more
wiley +1 more source
International Journal of Hepatology, Volume 2011, Issue 1, 2011., 2011 Chanarin‐Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries ...
Özdal Ersoy +5 more
wiley +1 more source
Indian Dermatology Online Journal, 2013 The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities.
Surajit Nayak +2 more
doaj +1 more source