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

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Abstract

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.

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Acknowledgements

FJDS and NJW are supported by grants from the Pachyonychia Congenita Project (http://www.pachyonychia.org) and The Dystrophic Epidermolysis Bullosa Research Association UK. We thank Dr Sancy A Leachman, University of Utah, Utah, USA, as PC Project consulting physician. We would like to thank to Ege University Research and Education Center for providing financial support.

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatrics, Ege University, Faculty of Medicine, 35100, Bornova, Izmir, Turkey

    Ozgur Cogulu, Ayca Aykut & Ferda Ozkinay

  2. Medical Genetics, Ege University, Faculty of Medicine, 35100, Bornova, Turkey

    Huseyin Onay

  3. Epithelial Genetics Group, Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, DD1 5EH, UK

    Neil J. Wilson & Frances J. D. Smith

  4. Dermatology, Ege University, Faculty of Medicine, 35100, Izmir, Turkey

    Tugrul Dereli

Authors
  1. Ozgur Cogulu
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  2. Huseyin Onay
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  3. Ayca Aykut
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  4. Neil J. Wilson
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  5. Frances J. D. Smith
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  6. Tugrul Dereli
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  7. Ferda Ozkinay
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Correspondence to Ozgur Cogulu.

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Cogulu, O., Onay, H., Aykut, A. et al. Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view. Eur J Pediatr 168, 1269–1272 (2009). https://doi.org/10.1007/s00431-008-0908-6

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  • DOI: https://doi.org/10.1007/s00431-008-0908-6

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