Search
for

    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.

    Related Terms

    Research 10 of 184

    1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    2. 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
    3. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    4. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    5. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    6. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    7. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    8. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    9. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma British Journal of Dermatology · 2013 · 2 citations
    10. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    All research results →

    Learn

    — no results

    Try a deeper search in learn →

    Community

    — no results

    Try a deeper search in community →