008 Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

Pityriasis rubra pilaris (PRP) is a rare papulosquamous disorder. Treatment is challenging; the armamentarium consists of topical corticosteroids, phototherapy, classic systemic treatments such as retinoids or immunosuppressive drugs, and most recently biologicals. However, the relative effectiveness of therapies is unclear. Our objective was to review the published literature on systemic treatment of PRP. A systematic review was conducted on PubMed and the Cochrane Library up to 5 September 2017. Studies evaluating any systemic treatments of PRP (except for historical treatments) were included. Overall, 182 studies met the predefined inclusion criteria, and reported on 475 patients and 652 courses of treatment. 42.0 % (225/514) of all patients treated with retinoids achieved an excellent response (isotretinoin: 61.1 % [102/167], etretinate: 47 % [54/115], and acitretin: 24.7 % [43/174]) compared to an excellent response rate of 33.1 % (53/160) with methotrexate. Therapy with biologicals was successful in 51.0 % of patients (71/133) (ustekinumab: 62.5 % [10/16], infliximab: 57.1 % [28/49], etanercept: 53.3 % [16/30], and adalimumab: 46.4 % [13/28]). This review balances effectiveness, side effects, experience, and drug costs in order to suggest a treatment regimen starting with isotretinoin as first-line, methotrexate as second-line and biologicals as third-line treatment for this difficult-to-treat dermatosis.

show abstract

“…Overall, 743 records were identified and 182 studies were considered eligible for analysis (Figure ).…”

Section: Resultsmentioning

confidence: 99%

“…Only a minority reported a multicenter setting . Four out of five studies described the treatment modality clearly , but only 15 % applied clearly defined outcome measures . Statistical analysis was rarely performed .…”

Section: Resultsmentioning

confidence: 99%

Systemic therapies of pityriasis rubra pilaris: a systematic review

Kromer

Sabat

Celis

et al. 2018

J Deutsche Derma Gesell

View full text Add to dashboard Cite

show abstract

“…CARD14, which is strongly expressed in the skin of these patients, is a known activator of nuclear factor kappa B signalling, a pathway that has been implicated in the pathology of inflammatory disorders . Different CARD14 mutations were found, mostly in type V PRP, which does not exclude that polymorphisms of CARD14 are also implicated in the pathophysiology of other forms of PRP …”

Section: Aetiology and Pathologymentioning

confidence: 97%

Pityriasis rubra pilaris: algorithms for diagnosis and treatment

Roenneberg

Biedermann

2018

Acad Dermatol Venereol

View full text Add to dashboard Cite

Pityriasis rubra pilaris (PRP) is a rare inflammatory skin disease that affects men and women of all ages and also children. The clinical appearance of PRP is highly variable, as is the individual prognosis. Therefore, stratifying PRP into six disease subtypes represents a first step to personalized medicine for this rare inflammatory skin disease. The next step should be to associate specific therapeutic strategies with these subtypes of PRP. However, no randomized, controlled trials on the treatment of PRP have been performed. Consequently, the actual treatment algorithm for PRP will be based on clinical experience, small case series and case reports. The majority of published evidence is on type I PRP, whereas the treatment experience for other clinical types of PRP is still sparse and has to be gained. Nevertheless, it is now time to start developing valid algorithms as a basis for the diagnosis and treatment of PRP based on the data available. This review makes use of algorithms developed in psoriasis and atopic eczema and puts together recent insights into the pathogenesis, diagnosis and treatment experience of PRP. The innovative intention of this appraisal is to develop a structured algorithm for PRP treatment that should be further developed going forward.

show abstract

“…98,99 Biologics have also emerged as potent therapeutic options, targeting TNF-a (eg, infliximab), IL-12/IL-23p40 (eg, ustekinumab), and IL-17 (eg, secukinumab). 98,99 Recent promising results have demonstrated that both infliximab 100 and ustekinumab 97,101 could be particularly effective for treating patients with CARD14-associated psoriasis/PRP. In the future, therapeutic inhibition of MALT1 might be another exciting avenue for treating CARD14 GOF-mediated psoriatic skin disorders.…”

Section: Heterozygous Gain-of-function Mutations In Card11 Cause B-cementioning

confidence: 99%

Germline CBM-opathies: From immunodeficiency to atopy

Lu¹,

Biggs

Blanchard-Rohner

et al. 2019

Journal of Allergy and Clinical Immunology

View full text Add to dashboard Cite

Caspase recruitment domain (CARD) protein-B cell CLL/lymphoma 10 (BCL10)-MALT1 paracaspase (MALT1) [CBM] complexes are critical signaling adaptors that facilitate immune and inflammatory responses downstream of both cell surface and intracellular receptors. Germline mutations that alter the function of members of this complex (termed CBMopathies) cause a broad array of clinical phenotypes, ranging from profound combined immunodeficiency to B-cell lymphocytosis. With an increasing number of patients being described in recent years, the clinical spectrum of diseases associated with CBM-opathies is rapidly expanding and becoming unexpectedly heterogeneous. Here we review major discoveries that have shaped our understanding of CBM complex biology, and we provide an overview of the clinical presentation, diagnostic approach, and treatment options for those carrying germline mutations affecting CARD9,

show abstract

008 Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

Cited by 9 publications

References 7 publications

Systemic therapies of pityriasis rubra pilaris: a systematic review

Systemic therapies of pityriasis rubra pilaris: a systematic review

Pityriasis rubra pilaris: algorithms for diagnosis and treatment

Germline CBM-opathies: From immunodeficiency to atopy

Contact Info

Product

Resources

About