National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Pachyonychia Congenita is not the name you expected.
Pachyonychia congenita (PC) is a rare keratinizing skin disorder inherited in an autosomal dominant fashion. The predominant characteristics are severe plantar pain, palmoplantar keratoderma (PPK) including calluses with underlying blisters and variable hypertrophic nail dystrophy, often accompanied by oral leukokeratosis, cysts of various types, follicular hyperkeratosis, palmoplantar hyperhydrosis and sometimes natal teeth.
Historically, PC was subdivided into PC-1 (caused by mutations in KRT6A or KRT16) and PC-2 (due to mutations in KRT6B or KRT17). However, based on clinical and molecular data collected by the International Pachyonychia Congenita Research Registry (IPCRR; www.pachyonychia.org ) the nomenclature was revised in 2011. Those with mutations in KRT6A are named PC-K6a, those with mutations in KRT16 are PCK16 etc.
Ectodermal Dysplasia Society
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- United Kingdom
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- Website: http://www.ectodermaldysplasia.org
Genetic and Rare Diseases (GARD) Information Center
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- Website: http://rarediseases.info.nih.gov/GARD/
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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