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

I. Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges 2016;14:123-139.

II. McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 2011;131:1015-1017.

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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