Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

Pachyonychia congenita (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, palmoplantar hyperkeratosis and multiple pilosebaceous cysts. In some cases, natal teeth and hair abnormalities may be present. It is caused by mutations in keratin 17 or its expressi...

Full description

Saved in:
Bibliographic Details
Published in:European journal of pediatrics 2009-10, Vol.168 (10), p.1269-1272
Main Authors: Cogulu, Ozgur, Onay, Huseyin, Aykut, Ayca, Wilson, Neil J., Smith, Frances J. D., Dereli, Tugrul, Ozkinay, Ferda
Format: Article
Language:English
Subjects:
Biological and medical sciences
Child, Preschool
DNA Mutational Analysis
Female
General aspects
General aspects. Genetic counseling
Genotype
Humans
Keratin-17 - genetics
Medical genetics
Medical sciences
Medicine
Medicine & Public Health
Mutation
Pachyonychia Congenita - genetics
Pachyonychia Congenita - pathology
Pediatrics
Pedigree
Phenotype
Prevention and actions
Public health. Hygiene
Public health. Hygiene-occupational medicine
Short Report
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Pachyonychia congenita (PC) type 2 is a rare inherited genetic disease characterized by hypertrophic nail dystrophy, palmoplantar hyperkeratosis and multiple pilosebaceous cysts. In some cases, natal teeth and hair abnormalities may be present. It is caused by mutations in keratin 17 or its expression partner keratin 6b. Here, an N92S (p.Asn92Ser) germline keratin 17 gene mutation in a pachyonychia congenita type 2 female patient is presented. The pedigree includes the 15 members of a family who showed a severe expression of the phenotype for six generations with a similar clinical picture consisting of sebaceous cysts, nail dystrophy, hyperkeratosis, hair abnormalities, natal teeth, hoarseness and hyperhydrosis. In conclusion, we emphasize the importance of diagnosing and managing pachyonychia congenita in childhood for the assistance of affected children and for the development of potential therapies.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-008-0908-6