The management and genetic background of pityriasis rubra pilaris: a single-centre experience

B. Gál, A. Göblös, J. Danis, K. Farkas, A. Sulák, E. Varga, N. Nagy, M. Széll, L. Kemény, Z. Bata-Csörgő

Research output: Contribution to journalArticle

Abstract

Background: Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory dermatosis with multifactorial aetiology. It is known that particular caspase recruitment domain family member 14 (CARD14) gene mutations are associated with familial PRP and certain forms of psoriasis. Additionally, few data are available about the role of CARD14 gene variants in sporadic PRP. The clinical picture is variable for the different types of PRP, therefore choosing the adequate treatment is often difficult, furthermore there are no specific guidelines for therapy. Objective: Our aim was to survey the efficacy of the applied therapies and to screen the CARD14 gene variants in our PRP patients. Methods: In this retrospective study, patients diagnosed with PRP between 2006 and 2016 at our clinic were involved. Besides the follow-up study of the treatments, the genetic analysis of CARD14 gene was performed. Results: We analysed 19 patients, among whom 17 were diagnosed with type I, one with type III, and one with type V PRP. The majority of the patients were successfully treated with acitretin in combination with systemic corticosteroids, and the remaining patients were treated with other systemic therapies with diverse effects. The genetic screening of CARD14 gene revealed two previously described mutations (rs114688446, rs117918077) and six polymorphisms (rs28674001, rs2066964, rs34367357, rs11653893, rs11652075, rs2289541). Ten of 19 patients carried different CARD14 genetic variants either alone or in combination. Conclusion: Based on our experience, we propose that acitretin and an initial combination of short-term systemic corticosteroid therapy could be a successful treatment option for PRP. Although we identified several CARD14 variants in almost half of our cases, we did not find a correlation between the therapeutic response and the genetic background. Our data support the previous observation that CARD14 genetic variants are not specific to PRP, although they may indicate chronic inflammation.

Original languageEnglish
JournalJournal of the European Academy of Dermatology and Venereology
DOIs
Publication statusPublished - Jan 1 2019

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Pityriasis Rubra Pilaris
Acitretin
Genes
Therapeutics
Adrenal Cortex Hormones
Mutation
Genetic Background
Caspase Activation and Recruitment Domain
Genetic Testing
Psoriasis
Skin Diseases
Retrospective Studies
Guidelines
Inflammation

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

Cite this

The management and genetic background of pityriasis rubra pilaris : a single-centre experience. / Gál, B.; Göblös, A.; Danis, J.; Farkas, K.; Sulák, A.; Varga, E.; Nagy, N.; Széll, M.; Kemény, L.; Bata-Csörgő, Z.

In: Journal of the European Academy of Dermatology and Venereology, 01.01.2019.

Research output: Contribution to journalArticle

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abstract = "Background: Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory dermatosis with multifactorial aetiology. It is known that particular caspase recruitment domain family member 14 (CARD14) gene mutations are associated with familial PRP and certain forms of psoriasis. Additionally, few data are available about the role of CARD14 gene variants in sporadic PRP. The clinical picture is variable for the different types of PRP, therefore choosing the adequate treatment is often difficult, furthermore there are no specific guidelines for therapy. Objective: Our aim was to survey the efficacy of the applied therapies and to screen the CARD14 gene variants in our PRP patients. Methods: In this retrospective study, patients diagnosed with PRP between 2006 and 2016 at our clinic were involved. Besides the follow-up study of the treatments, the genetic analysis of CARD14 gene was performed. Results: We analysed 19 patients, among whom 17 were diagnosed with type I, one with type III, and one with type V PRP. The majority of the patients were successfully treated with acitretin in combination with systemic corticosteroids, and the remaining patients were treated with other systemic therapies with diverse effects. The genetic screening of CARD14 gene revealed two previously described mutations (rs114688446, rs117918077) and six polymorphisms (rs28674001, rs2066964, rs34367357, rs11653893, rs11652075, rs2289541). Ten of 19 patients carried different CARD14 genetic variants either alone or in combination. Conclusion: Based on our experience, we propose that acitretin and an initial combination of short-term systemic corticosteroid therapy could be a successful treatment option for PRP. Although we identified several CARD14 variants in almost half of our cases, we did not find a correlation between the therapeutic response and the genetic background. Our data support the previous observation that CARD14 genetic variants are not specific to PRP, although they may indicate chronic inflammation.",
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AU - Danis, J.

AU - Farkas, K.

AU - Sulák, A.

AU - Varga, E.

AU - Nagy, N.

AU - Széll, M.

AU - Kemény, L.

AU - Bata-Csörgő, Z.

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