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Pachyonychia Congenita

Abstract

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NORD is very grateful to Mario Vaccaro, MD, PhD, Aggregate Professor of Dermatology and Venereology, University of Messina, Institute of Dermatology, Policlinico Universitario, Via Consolare Valeria, Messina, Italy, for assistance in the preparation of this report.

Synonyms of Pachyonychia Congenita

  • No synonyms found.

Disorder Subdivisions

  • pachyonychia congenita type 1 (PC-1)
  • pachyonychia congenita type 2 (PC-2)

General Discussion

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.

Pachyonychia Congenita Resources

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