Results 71 to 80 of about 31,665 (304)
Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Holm Schneider +10 more
wiley +1 more source
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Journal of Clinical Laboratory Analysis, EarlyView.Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]
, 2015 Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article,
Cepeda-Valdés, Rodrigo +7 more
core +2 more sources
Paediatrica Indonesiana, 2017 A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the tropics and in all traces where the ichthyosis gene is present.
, Rusdidjas, H, Siregar, S, Tarigan
openaire +3 more sources
Ichthyosis in Dogs—Congenital Dermatologic Disorder
Folia Veterinaria, 2021 The skin provides protective functions, such as thermoregulation, resorption, provision of immune responses, storage and sensory functions, which all play an important role in the internal stability of the organism.
Malinovská Z., Čonková E.
doaj +1 more source
Obstetrical aspects in congenital ichtyosis [PDF]
, 2016 We present a case of congenital ichthyosis because obstetrical literature is scarce and most obstetricians could need a reminder and update. Congenital ichthyosis (CI) comprises a variety of skin disorders characterised by abnormal keratinization of the ...
Dehaene, Isabelle +2 more
core
Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
Case Reports in Dentistry, 2014 Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar +5 more
doaj +1 more source
The phenotypic and genotypic spectra of ichthyosis with confetti plus novel genetic variation in the 3' end of KRT10: from disease to a syndrome [PDF]
, 2015 Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor
Brena, Michela +7 more
core +1 more source
Burden of itch in ichthyosis: a multicentre study in 94 patients
Journal of the European Academy of Dermatology and Venereology, 2019 From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis.
A. M. D. Palma +7 more
semanticscholar +1 more source