Asunto(s)
Compuestos Bicíclicos Heterocíclicos con Puentes/uso terapéutico , Eosinófilos/patología , Leucemia Linfocítica Crónica de Células B/complicaciones , Enfermedades de la Piel/tratamiento farmacológico , Enfermedades de la Piel/etiología , Sulfonamidas/uso terapéutico , Biopsia , Compuestos Bicíclicos Heterocíclicos con Puentes/administración & dosificación , Compuestos Bicíclicos Heterocíclicos con Puentes/efectos adversos , Femenino , Humanos , Hibridación in Situ , Persona de Mediana Edad , Piel/metabolismo , Piel/patología , Enfermedades de la Piel/diagnóstico , Sulfonamidas/administración & dosificación , Sulfonamidas/efectos adversos , Resultado del TratamientoRESUMEN
Antimelanoma differentiation-associated protein 5 positive dermatomyositis (MDA5 DM) is a rare subtype of idiopathic inflammatory myopathy. There are limited data available regarding the cutaneous manifestations of MDA5 DM in the African American population. We presented the case of a male patient in his early 20s who presented with debilitating cutaneous ulceration and myopathy. Workup revealed interstitial lung disease (ILD) and positive MDA5 serology consistent with MDA5 DM. He made a remarkable recovery in terms of myopathy and cutaneous ulcerations with a multipronged regimen of prednisone, intravenous immunoglobulin and mycophenolate mofetil. However, there was a progression of ILD on this regimen which warranted use of rituximab.
Asunto(s)
Dermatomiositis , Enfermedades Pulmonares Intersticiales , Úlcera Cutánea , Humanos , Masculino , Dermatomiositis/complicaciones , Dermatomiositis/tratamiento farmacológico , Úlcera , Helicasa Inducida por Interferón IFIH1 , Autoanticuerpos , Enfermedades Pulmonares Intersticiales/complicaciones , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Úlcera Cutánea/tratamiento farmacológico , Úlcera Cutánea/etiología , Estudios RetrospectivosRESUMEN
Hypereosinophilic syndrome is a rare disorder arising from neoplastic, or idiopathic causes. The availability of NGS panels has increasingly identified rare mutations as underlying pathogenic events and have led to reclassification of cases of idiopathic hypereosinophilic syndrome as chronic eosinophilic leukemia(CEL). In this report, we describe a case of a young man with hypereosinophilia whose disease initially did not fit the WHO criteria for CEL but harbored a rare mutation in CCT6B gene. We report our experience in successfully treating this patient with multiple tyrosine kinase inhibitors and provide literature review of this rare entity including potential treatment strategies.