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 is a rare disorder inherited in an autosomal dominant fashion. It can be divided into two main forms, PC type 1 and PC type 2. The predominant features common to both types are thick nails (hypertrophic nail dystrophy), thick skin on the palms and soles (focal palmoplantar keratoderma) and a white outer layer on the tongue and cheek (oral leukokeratosis). PC-2 is distinguished from PC-1 by the presence of widespread pilosebaceous (associated with hair and related glands) cysts, or cysts that normally develop during puberty; in PC-1 there may be a limited distribution of cysts. Teeth that are present at birth (natal teeth) are a specific feature of PC-2 but they are not always present (not fully penetrant). Pachyonychia congenita is caused by disruptions or changes (mutations) of one of several different genes.
Ectodermal Dysplasia Society
- Unit 1 Maida Vale Business Centre
- England, GL53 7ER
- United Kingdom
- Tel: 4401242261332
- Tel: 4407805775703
- Email: firstname.lastname@example.org
- Website: http://www.ectodermaldysplasia.org
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
- Website: http://rarediseases.info.nih.gov/GARD/
National Foundation for Ectodermal Dysplasias
- 6 Executive Drive
- Suite 2
- Fairview Hights, IL 62208
- Tel: 618-566-2020
- Fax: 618-566-4718
- Email: email@example.com
- Website: http://www.nfed.org
Pachyonychia Congenita Project
- 2386 East Heritage Way, Suite B
- Salt Lake City, UT 84109
- Tel: (877)628-7300
- Fax: (877)628-7399
- Tel: (877)628-7300
- Email: firstname.lastname@example.org
- Website: http://www.pachyonychia.org
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 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. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
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.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 1/11/1970
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