Asunto(s)
Eccema/etiología , Histiocitosis de Células de Langerhans/diagnóstico , Enfermedades de la Hipófisis/etiología , Dermatosis del Cuero Cabelludo/etiología , Acantoma/complicaciones , Acantoma/patología , Adulto , Enfermedad Crónica , Condiloma Acuminado/complicaciones , Condiloma Acuminado/cirugía , Diabetes Insípida/tratamiento farmacológico , Diabetes Insípida/etiología , Errores Diagnósticos , Enfermedades del Oído/tratamiento farmacológico , Enfermedades del Oído/etiología , Oído Externo , Eccema/patología , Enfermedades de los Genitales Masculinos/complicaciones , Enfermedades de los Genitales Masculinos/cirugía , Enfermedades de los Genitales Masculinos/virología , Histiocitosis de Células de Langerhans/complicaciones , Histiocitosis de Células de Langerhans/tratamiento farmacológico , Humanos , Células de Langerhans/patología , Terapia por Láser , Enfermedades Linfáticas/tratamiento farmacológico , Enfermedades Linfáticas/etiología , Enfermedades Linfáticas/patología , Masculino , Infecciones por Papillomavirus/complicaciones , Infecciones por Papillomavirus/cirugía , Enfermedades de la Hipófisis/tratamiento farmacológico , Enfermedades de la Hipófisis/patología , Neoplasias Hipofisarias/diagnóstico , Prednisolona/administración & dosificación , Prednisolona/uso terapéutico , Dermatosis del Cuero Cabelludo/tratamiento farmacológico , Dermatosis del Cuero Cabelludo/patología , Vinblastina/administración & dosificación , Vinblastina/uso terapéuticoAsunto(s)
Criptococosis/diagnóstico , Cryptococcus neoformans , Dermatomicosis/diagnóstico , Neoplasias Faciales/diagnóstico , Huésped Inmunocomprometido , Neoplasias Cutáneas/diagnóstico , Úlcera Cutánea/diagnóstico , Anciano , Dermatomicosis/microbiología , Diagnóstico Diferencial , Humanos , Leucemia Linfocítica Crónica de Células B/epidemiología , Masculino , Neumonía por Mycoplasma/complicacionesRESUMEN
Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant inherited disease that belongs to the group of hereditary fever syndromes, that are also named hereditary auto-inflammatory syndromes. TRAPS is characterized by a variety of naturally occurring mutations in a TNF receptor (TNFR), that affect the soluble TNFRSF1A gene in the 12p13 region. In some patients, the pathogenesis of TRAPS involves defective TNFRSF1A shedding from cell membranes in response to varying stimuli. TRAPS is characterized by the periodic occurrence of a broad variety of different clinical symptoms that represent an acute-phase response, including fever and pain in the joints, abdomen, muscles, skin or eyes, with broad variations across patients. In many cases, skin involvement is present that may include migratory patches, skin rashes, erysepela-like erythema, edematous plaques, urticaria, periorbital edema and/or conjunctivitis. The histology of skin lesions in TRAPS is nonspecific, in general a perivascular dermal infiltrate of lymphocytes and monocytes can be found. Cutaneous findings are of particular importance in TRAPS: they have been shown to give direction to the diagnosis of TRAPS and in most cases their treatment is challenging. As the incidence of TRAPS is very low, no prospective randomized controlled trials and only a few studies with case numbers up to twenty-five patients have been published. No guidelines for TRAPS treatment have been established so far. This review summarizes our present knowledge about pathogenesis, clinical outcome and treatment options of skin manifestations in TRAPS.