RESUMEN
Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.
Asunto(s)
Humanos , Masculino , Anciano , Amiloidosis Familiar/complicaciones , Paraproteinemias , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/complicaciones , Errores Diagnósticos , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/complicacionesAsunto(s)
Humanos , Femenino , Anciano de 80 o más Años , Artritis Reumatoide/complicaciones , Enfermedades Cutáneas Genéticas/complicaciones , Enfermedades Cutáneas Genéticas/patología , Amiloidosis Familiar/complicaciones , Amiloidosis Familiar/patología , Piel/patología , Biopsia , Bulgaria , Eritema/etiología , Eritema/patologíaRESUMEN
Abstract: Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Herein, we report a case of amyloidosis cutis dyschromica accompanying familial Mediterranean fever with a delayed diagnosis of 40 years. To the best of our knowledge, this is the first report of the association of amyloidosis cutis dyschromica and familial mediterranean fever.
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Fiebre Mediterránea Familiar/complicaciones , Enfermedades Cutáneas Genéticas/complicaciones , Enfermedades Cutáneas Genéticas/patología , Amiloidosis Familiar/complicaciones , Amiloidosis Familiar/patología , Biopsia , Hiperpigmentación/patología , Dermis/patologíaRESUMEN
Abstract: Primary localized cutaneous amyloidosis is a skin-limited amyloidosis that does not involve internal organs. It is clinically subclassified into 3 general categories and some rare variants. However, there is considerable overlap within the classification. Though there are a variety of therapeutic measures, the treatment is often unsatisfactory, particularly when the disease is severe and extensive. We describe a rare case of primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions that showed an excellent response to systemic acitretin.