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

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. ResultsWe 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.

Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation

“…The role of CARD14 in the pathogenesis of several inflammatory skin conditions was initially described through publications of familial cases of PsV and PRP (13)(14)(15). Gál et al (16) identified several CARD14 variants in almost half of their cases of PRP, but no correlation was found between the therapeutic response and the genetic background, which could have been due to a limited number of patients. To date, there are several reports that indicate that various CARD14 mutations may lead to autoinflammatory skin diseases such as plaque, pustular and/or erythrodermic types of psoriasis, pityriasis rubra pilaris, ichthyosis, and psoriatic arthritis (Figure 2).…”

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis

“…Both rs34367357 and rs2066964 were also associated with pustular psoriasis and psoriasis vulgaris in a Hans Chinese population [ 42 ]. These two nsSNPs were also reported to be associated with pityriasis rubra pilaris in a Hungarian population [ 43 ]. The association of nsSNPs rs34367357 and rs2066964 with disease severity, joint pain, and BMI was also determined.…”