Results 71 to 80 of about 517,181 (258)

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

open access: yesJournal of the European Academy of Dermatology and Venereology, 2021
Non‐syndromic congenital ichthyosis describes a heterogeneous group of hereditary skin disorders associated with erythroderma and scaling at birth.
L. Frommherz   +9 more
semanticscholar   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

open access: yes, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Betz, Regina C.   +12 more
core   +2 more sources

Hypernatremia in congenital lamellar ichthyosis

open access: bronzeThe Journal of Pediatrics, 1979
Ben Zion Garty, Aryeh Metzker, M Nitzan
openalex   +4 more sources

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review [PDF]

open access: yes, 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

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]

open access: yes, 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

A Human-Derived Monoclonal Antibody Targeting Extracellular Connexin Domain Selectively Modulates Hemichannel Function [PDF]

open access: yes, 2019
Connexin hemichannels, which are plasma membrane hexameric channels (connexons) composed of connexin protein protomers, have been implicated in a host of physiological processes and pathological conditions. A number of single point pathological mutations
Buratto, Damiano   +12 more
core   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

open access: yesDermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source

Ichthyosis as one of the forms of hereditary pathology of fetus and newborn

open access: yesМедицинский вестник Юга России, 2020
A retrospective analysis of the course of pregnancy and childbirth during the birth of a child with a congenital pathology «ichthyosis» was carried out.
A. A. Borscheva   +2 more
doaj   +1 more source

NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis

open access: yesRomanian Journal of Laboratory Medicine, 2016
Introduction: Autosomal recessive congenital ichthyosis is a non-syndromic ichthyosis, with a genetic background of mutations in 9 genes. This case series presents clinical and paraclinical particularities of 3 Romanian ARCI patients with NIPAL4 mutation
Maier Dalila   +4 more
doaj   +1 more source

Harlequin ichthyosis newborn: A case report

open access: yesSAGE Open Medical Case Reports, 2022
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj   +1 more source

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