Pachyonychia Congenita

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Pachyonychia Congenita is not the name you expected.

Disorder Subdivisions

  • None

General Discussion


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; ) the nomenclature was revised in 2011. Those with mutations in KRT6A are named PC-K6a, those with mutations in KRT16 are PCK16 etc.

Other Organizations

Ectodermal Dysplasia Society

Unit 1 Maida Vale Business Centre
England, GL53 7ER
United Kingdom
Tel: 4401242261332
Tel: 4407805775703

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311

For a Complete Report

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 and click on Rare Disease Database under "Rare Disease Information".

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