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    Glossary Pachyonychia Congenita

    rare genetic disorder causing thickened nails and painful skin

    Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened nails, painful calluses on the soles of the feet and palms of the hands, and other skin abnormalities. It is caused by mutations in one of several keratin genes, which are essential for the structural integrity of skin, hair, and nails.

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    Research 30 of 182

    1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    2. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    3. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    4. <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting Experimental Dermatology · 2003 · 8 citations
    5. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    6. KRT16 wt Allele Definitions · 2020
    7. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    8. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    9. Keratin 17 in disease pathogenesis: from cancer to dermatoses Journal of pathology · 2018 · 62 citations
    10. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    11. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    12. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    13. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    14. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    15. Keratin disorders: from gene to therapy 2011 · 109 citations
    16. Keratins and skin disease 2015 · 69 citations
    17. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    18. Anhidrotic effect of intradermal injections of botulinum toxin—A comparison of different products and concentrations Toxicon · 2008
    19. Keratins and disease at a glance Journal of Cell Science · 2012 · 87 citations
    20. Building Models for Keratin Disorders 2012 · 4 citations
    21. The expanding significance of keratin intermediate filaments in normal and diseased epithelia Current opinion in cell biology · 2012 · 186 citations
    22. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    23. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    24. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    25. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    26. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    27. Botulinum Toxin Off-Label Use in Dermatology: A Review Skin appendage disorders · 2017 · 53 citations
    28. The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond British Journal of Dermatology · 2017 · 44 citations
    29. Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders 2012 · 1 citations
    30. Hair and Nail Relationship Skinmed · 2005 · 21 citations