The management and genetic background of pityriasis rubra pilaris: a single‐center experience

Abstract

Background

Pityriasis rubra pilaris (PRP) is a rare chronic inflammatory dermatosis with multifactorial etiology. 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 genvariants 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 analyzed 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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