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.
National Foundation for Ectodermal Dysplasias
6 Execuitive Drive
Fairview Hiights, IL 62208
Pachyonychia Congenita Project
2386 East Heritage Way, Suite B
Salt Lake City, UT 84109
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
England, GL53 7ER
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Last Updated: 5/8/2012
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