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1023 search results for:

Ichthyosis 

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  1. Open Access 25-07-2023 | Ichthyosis | BriefCommunication

    Prenatal diagnosis of a fetal harlequin ichthyosis

  2. 01-01-2024 | Ichthyosis | OriginalPaper

    Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis

    Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1 , ALOX12B , and ALOXE3 being the most prevalent [ 5 ]. Establishing an accurate diagnosis is important for effective genetic …

  3. 09-07-2023 | Ichthyosis | ReviewPaper

    Acquired ichthyosis: a clinical review

    Acquired ichthyosis (AI) is a rare, nonhereditary cutaneous disorder that has been associated with numerous neoplastic, infectious, drugs, endocrine, metabolic, autoimmune, and malabsorptive diseases. Review all demographical, clinical …

  4. Open Access 01-12-2022 | Secukinumab | ReviewPaper

    New developments in the molecular treatment of ichthyosis: review of the literature

    Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined with constant development of …

  5. Open Access 05-08-2023 | Ichthyosis | OriginalPaper

    Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population

    The term “ichthyosis” derives from the Greek word “ ichthys, " meaning fish, and it has been used for over 200 years to describe a group of diseases characterized by generalized desquamation of the skin, generalized “scales,” dry skin …

  6. 26-02-2022 | Secukinumab | OriginalPaper

    Secukinumab responses vary across the spectrum of congenital ichthyosis in adults

    Congenital ichthyoses are orphan disorders (< 1:200,000 persons) characterized by having a poor epidermal barrier in association with skin thickening, scaling, and inflammation. Epidermolytic ichthyosis (EI), Netherton syndrome (NS), and autosomal …

  7. 08-05-2023 | Ichthyosis | OriginalPaper

    Identification of carrier status of Xp22.31 microdeletions associated with X-linked ichthyosis at the single-cell level using haplotype linkage analysis by karyomapping

    X-linked ichthyosis (MIM #308100) is caused by a loss-of-function mutation in the gene encoding the microsomal enzyme steroid sulfatase ( STS ) [ 1 – 3 ]. Insufficient activity of STS leads to hyperkeratosis and impaired permeability of the skin [ …

  8. 01-12-2020 | Magnetic Resonance Imaging | Case Study

    Uncrossed corticospinal tracts in a patient with ichthyosis and hemiparesis: a case report

    Supratentorial stroke is widely known to cause neurological impairment on the contralateral side of the body. Previous neuroanatomic studies have shown that the primary motor cortex predominantly controls the contralateral half of the body [ 1 ].

  9. Open Access 11-05-2023 | Ichthyosis | OriginalPaper

    Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study

    Congenital ichthyosis (CI) includes a wide range of keratinizing disorders, generally resulting from gene mutations that produce defects in the biosynthesis of proteins and lipids important for normal skin barrier formation and leading to severe …

  10. 01-05-2020 | Ichthyosis | ReviewPaper

    Non-invasive methods for evaluation of skin manifestations in patients with ichthyosis

    Hereditary ichthyoses include a group of diseases characterized by hyperkeratosis, scaling, generalized xerosis, and is frequently associated with erythroderma. They are classified as syndromic and non-syndromic entities. The monitoring of the …

  11. 03-10-2022 | Rickets | OriginalPaper

    A cross-sectional study to find association of VDR gene polymorphism with non-syndromic congenital ichthyosis and with vitamin D deficiency

    Though development of vitamin D deficiency and rickets in patients with congenital ichthyosis (CI) have recently been observed, yet exact cause of such association is not properly understood. To evaluate association between Vitamin D Receptor …

  12. Open Access 01-12-2021 | Ultrasound | OriginalPaper

    Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review

    Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Also known as heavy colloidal foetus or ugly foetus, its incidence is very low, ranging from 1/300 000 to 1/1 000 000 [ 1 ]. HI typically …

  13. 12-08-2022 | Ichthyosis | ReviewPaper

    Treatments for Non-Syndromic Inherited Ichthyosis, Including Emergent Pathogenesis-Related Therapy

    The term ‘inherited ichthyosis’ refers to a heterogeneous group of mendelian disorders of cornification that involve the integument with varying degrees of scaling. The management of ichthyosis poses a challenge for most physicians. Treatment …

  14. Open Access 01-12-2022 | Ichthyosis | OriginalPaper

    Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

    Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000.

  15. Open Access 01-12-2021 | Etanercept | Erratum

    Correction to: Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

  16. Juvenile idiopathic arthritis in infants with Harlequin Ichthyosis: two cases report and literature review

    Harlequin Ichthyosis (HI) is a severe genetic disorder of skin keratinization, caused by mutations in the ABCA12 gene, inherited as autosomal recessive trait. The estimated incidence is less than 1/300.000 births [ 1 ]. HI represents the most …

  17. Open Access 01-12-2021 | Human Papillomavirus | OriginalPaper

    Intravesical ichthyosis: a rare case report

    Ichthyosis is a rare inherited or acquired benign skin disease, in which the shedding of squamous cells is altered. This leads to thick dry skin patches that are made of layers of dead skin cells [ 1 ]. The acquired variant is most often associated …

  18. 01-10-2021 | Ichthyosis

    Carcinoma Cervix Leading to Ichthyosis Uteri: A Rare Case Report

    Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. It is a benign lesion and its association with benign and malignant conditions has been reported in the …

  19. Open Access 01-12-2021 | Etanercept | OriginalPaper

    Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

    Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis, a rare heterogeneous group of recessively inherited ichthyosis which encompasses a wide range of clinical phenotypes [ 1 , 2 ]. HIis due to …

  20. 01-06-2019 | Ichthyosis | Report

    Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis

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