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
410 East Main Street
Mascoutah, IL 62258-0114
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
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
Gloucestershire, GL53 9ER
Tel: +44 (0) 1242 261332
Fax: +44 (0) 1242 261332
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Last Updated: 9/1/2009
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