Search
for

    Glossary Ichthyosis

    genetic skin disorder causing dry, scaly, fish-like skin

    Ichthyosis is a group of genetic skin disorders characterized by dry, scaly skin that resembles fish scales. This condition results from mutations affecting the skin's ability to shed dead cells, leading to a buildup of thick, flaky skin. While there are various types, ranging from mild to severe, treatment typically focuses on moisturizing and exfoliating the skin to manage symptoms.

    Related Terms

    Sort by

    Research 30 of 950

    1. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    2. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    3. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    4. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    5. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985 · 75 citations
    6. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    7. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    8. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    9. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    10. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    11. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
    12. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    13. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter 2000 · 36 citations
    14. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    15. Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications The Journal of Dermatology · 2010 · 29 citations
    16. Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. PubMed · 1997 · 27 citations
    17. Nutritional Status and Gastrointestinal Structure and Function in Children With Ichthyosis and Growth Failure Journal of pediatric gastroenterology and nutrition · 2004 · 22 citations
    18. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    19. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    20. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    21. Follicular ichthyosis 1984 · 17 citations
    22. Netherton's syndrome and ichthyosis linearis circumflexa. PubMed · 1970 · 15 citations
    23. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation Journal of human genetics · 2010 · 14 citations
    24. Clearance of ichthyosis linearis circumflexa with balneophototherapy Journal of the European Academy of Dermatology and Venereology · 2000 · 12 citations
    25. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    26. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    27. Recent advances in congenital ichthyoses 2015 · 10 citations
    28. Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy. Journal of Dermatological Case Reports · 2015 · 9 citations
    29. Ichthyosis with confetti: a rare diagnosis and treatment plan BMJ case reports · 2014 · 7 citations
    30. Ichthyosis hystrix Indian dermatology online journal · 2013 · 7 citations