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: The objective of this review is to describe the clinical manifestations of the growing spectrum of monogenic autoinflammatory diseases including recently described syndromes. The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary "periodic fever syndromes", familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.Clinical Immunology 04/2013; · 3.77 Impact Factor
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ABSTRACT: The term retinoid includes both natural and synthetic derivatives of vitamin A. Retinoid-containing treatments have been used since ∼1550BC by the early Egyptians. Treatment of ichthyosiform disorders with retinoids dates back at least to the 1930s. Early use of high-dose vitamin A demonstrated efficacy, but because vitamin A is stored in the liver, toxicity limited usefulness. Interest turned to synthetic retinoids in an effort to enhance efficacy and limit toxicity. Acetretin, isotretinoin and, in the past etretinate, have provided the most effective therapy for ichthyosiform conditions. They have been used for a variety of ages, including in newborns with severe ichthyosis and for decades in some patients. Careful surveillance and management of mucous membrane, laboratory, skeletal, and teratogenic side effects has made systemic retinoids the mainstay of therapy for ichthyosis and related skin types.Dermatologic Therapy 01/2013; 26(1):26-38. · 1.48 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. · 0.54 Impact Factor