Familial pityriasis rubra pilaris: report of a family and therapeutic response to etanercept.
ABSTRACT Pityriasis rubra pilaris (PRP) is an uncommon dermatosis of unknown etiology. The familial subtype is rare and usually presents as type V PRP. It is generally inherited in an autosomal dominant fashion with variable expression. Other forms of inheritance, such as autosomal recessive and X-linked, have also been reported. The use of etanercept in treating resistant forms of PRP is promising given reports of its success in a few cases. Herein, the authors report two cases of PRP arising in a mother and son and review the rare familial subtype of this disease. In addition, a successful therapeutic trial of etanercept was initiated in the mother based on case reports of its efficacy in other patients with PRP.
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ABSTRACT: Pityriasis rubra pilaris (PRP) includes a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. Different etiologies have been proposed such as vitamin A metabolism dysfunction, association with autoimmune disorders, infection or malignancies. However, PRP seems to be a polygenic skin disorder. Classical systemic treatment is empirical and includes retinoids and methotrexate; however, only few series on treatments exist. Recently there has been an increasing number of reports documenting that new biologicals and in particular TNF-α blockers are safe and effective.Dermatology 04/2012; 224(2):120-5. DOI:10.1159/000337546 · 1.69 Impact Factor
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ABSTRACT: Pityriasis rubra pilaris (PRP) is a papulosquamous disorder phenotypically related to psoriasis. The disease has been occasionally shown to be inherited in an autosomal-dominant fashion. To identify the genetic cause of familial PRP, we ascertained four unrelated families affected by autosomal-dominant PRP. We initially mapped PRP to 17q25.3, a region overlapping with psoriasis susceptibility locus 2 (PSORS2 [MIM 602723]). Using a combination of linkage analysis followed by targeted whole-exome sequencing and candidate-gene screening, we identified three different heterozygous mutations in CARD14, which encodes caspase recruitment domain family, member 14. CARD14 was found to be specifically expressed in the skin. CARD14 is a known activator of nuclear factor kappa B signaling, which has been implicated in inflammatory disorders. Accordingly, CARD14 levels were increased, and p65 was found to be activated in the skin of PRP-affected individuals. The present data demonstrate that autosomal-dominant PRP is allelic to familial psoriasis, which was recently shown to also be caused by mutations in CARD14.The American Journal of Human Genetics 06/2012; 91(1):163-70. DOI:10.1016/j.ajhg.2012.05.010 · 10.99 Impact Factor
Article: [Pityriasis rubra pilaris].[Show abstract] [Hide abstract]
ABSTRACT: Pityriasis rubra pilaris is an inflammatory papulosquamous skin disease of unknown etiology. Incidence rates vary between 1:5,000-1:50,000. Six subtypes are differentiated on clinical background. The juvenile circumscribed subtype has best prognosis. Generalized disease impairs quality of life of patients. It is associated with various complications and comorbidities. Treatment of pityriasis rubra pilaris is challenging. Retinoids are first line drugs. In recalcitrant cases, tumor necrosis factor-α inhibitors have been used successfully.Der Hautarzt 07/2012; 63(8):655-61; quiz 662. DOI:10.1007/s00105-012-2424-x · 0.54 Impact Factor