Ichthyosis with Confetti: Clinics, Molecular Genetics and Management

    September 2015 in “ Orphanet Journal of Rare Diseases ”
    Liliana Guerra, Andrea Diociaiuti, May El Hachem … Giovanna Zambruno
    Studysummary This review discusses ichthyosis with confetti, highlighting its genetic basis, clinical features, diagnostic criteria, and current treatment options but reports no new clinical results.
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    Research cited in this study 13

    1. Heterogeneous Stem Cells in Skin Homeostasis and Wound Repair The Indonesian Biomedical Journal · 2015
    2. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10 JAMA dermatology · 2014
    3. Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan BMJ case reports · 2014
    4. Identification and Molecular Characterization of a New Ovarian Cancer Susceptibility Locus at 17q21.31 Nature Communications · 2013
    5. Comparative Anatomy of Mouse and Human Nail Units The Anatomical Record · 2013
    6. Care of the Newborn with Ichthyosis Dermatologic Therapy · 2013
    7. The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia Current opinion in cell biology · 2012
    8. Keratins And Disease At A Glance Journal of Cell Science · 2012
    9. Keratin Gene Mutations in Disorders of Human Skin and Its Appendages Archives of Biochemistry and Biophysics · 2010
    10. British Association of Dermatologists Guidelines on the Efficacy and Use of Acitretin in Dermatology British Journal of Dermatology · 2010
    11. The Human Keratins: Biology And Pathology Histochemistry and Cell Biology · 2008
    12. An Unexpected Role for Keratin 10 End Domains in Susceptibility to Skin Cancer Journal of Cell Science · 2006
    13. Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed British Journal of Dermatology · 2004