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
- Unit 1 Maida Vale Business Centre
- England, GL53 7ER
- United Kingdom
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- Website: http://www.ectodermaldysplasia.org
Genetic and Rare Diseases (GARD) Information Center
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- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
National Foundation for Ectodermal Dysplasias
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- Tel: 618-566-2020
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- Website: http://www.nfed.org
Pachyonychia Congenita Project
- 2386 East Heritage Way
- Suite B
- Salt Lake City, UT 84109
- Tel: (877) 628-7300
- Tel: (877) 628-7300
- Email: email@example.com
- Website: http://www.pachyonychia.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 11/30/2015
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