Pachyonychia congenita associated with mutation of the KRT16 gene

Authors

  • María Lertora Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina
  • Sandra García Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina
  • Graciela Manzur University of Buenos Aires, Autonomous City of Buenos Aires, Argentina
  • Mónica Natale University of Buenos Aires, Autonomous City of Buenos Aires, Argentina
  • Patricia S. Della Giovanna Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina

Keywords:

pachyonychia congenita, palmoplantar keratoderma, KRT16 gene, nail dystrophy, plantar pain

Abstract

Pachyonychia congenita it belongs to a heterogeneous group of genetic disorders known as palmoplantar keratodermas, which are characterized by the thickening of the skin of palms and soles. Is a rare genodermatosis, of autosomal dominant inheritance. A male patient with palmoplantar keratodermas and mucous membrane compromised, with a missense mutation in KRT16 is presented.

Author Biographies

  • María Lertora, Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina

    Head of Residents of the Dermatology Service

  • Sandra García, Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina

    Head of the Pathological Anatomy Service

  • Graciela Manzur, University of Buenos Aires, Autonomous City of Buenos Aires, Argentina

    Director of the Center for Research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA) of the Faculty of Medicine

  • Mónica Natale, University of Buenos Aires, Autonomous City of Buenos Aires, Argentina

    Center for Research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA) of the Faculty of Medicine

  • Patricia S. Della Giovanna, Professor Alejandro Posadas National Hospital, El Palomar, Buenos Aires, Argentina

    Head of Dermatology Service

References

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III. Smith FJD, Hansen CD, Hull PR, Kaspar RL et ál. Pachyonychia congenita. GeneReviews® [Internet]. 2006 Jan 27 [Updated 2017 Nov 30].NCBI Bookshelf.

IV. Della Giovanna P. Queratinas. Actualización. Arch Argent Dermatol 2003;53:83-85.

V. Spaunhurst KM, Hogendorf AM, Smith FJD, Lingala B, et ál. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. Br J Dermatol 2012;166: 875-878.

VI. Fu T, Leachman SA, Wilson NJ, Smith FJD, et ál. Genotype– phenotype correlations among pachyonychia congenita patients with K16 mutations. J Invest Dermatol 2011;131:1025-1028.

VII. Goldberg I, Fruchter D, Meilick A, Schwartz ME, et ál. Best treatment practices for pachyonychia congenita. J Eur Acad Dermatol Venereol 2014;28:279-285.

VIII. Hickerson RP, Leake D, Pho LN, Leachman SA, et ál. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci 2009;56:82-88.

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Published

2019-04-24

Issue

Vol. 25 No. 1 (2019): January-March 2019

Section

Clinical Cases

License

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