RESUMEN
Drug-induced hypersensitivity syndrome (DIHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe drug adverse reaction with skin eruption and visceral organ involvement. The characteristic clinical features of DIHS/DRESS are reactivation of human herpesviruses (HHV) and the development of autoimmune diseases, but their pathogenesis and associations are not yet understood. Here, we report a 66-year-old man who presented with fever, generalized erythema, diffuse lymphadenopathy, and diarrhea after 3 weeks of treatment with zonisamide. Reactivation of HHV-6 and cytomegalovirus (CMV) was detected during the clinical course. The patient was diagnosed with DIHS/DRESS and treated with systemic prednisolone, i.v. immunoglobulin therapy, and ganciclovir. However, severe enterocolitis persisted for 6 months. A series of examinations revealed features of both CMV enterocolitis, as indicated by identification of a few CMV-positive cells on immunohistochemical analysis, and graft-versus-host disease (GVHD)-like enterocolitis indicated by orange-peel appearance on endoscopic examination and histopathological loss of goblet cells. Intractable enterocolitis continued and the patient finally died of pneumonia. An autoimmune predisposition in DIHS/DRESS patients in combination with CMV reactivation was considered to trigger the severe enterocolitis of this case that showed GVHD-like features of the gastrointestinal tract. GVHD-like organ damage is a pathological condition rarely observed in DIHS/DRESS but should be recognized as one of the most severe complications of the disease.
Asunto(s)
Infecciones por Citomegalovirus , Síndrome de Hipersensibilidad a Medicamentos , Hipersensibilidad a las Drogas , Enterocolitis , Eosinofilia , Enfermedad Injerto contra Huésped , Anciano , Citomegalovirus , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico , Síndrome de Hipersensibilidad a Medicamentos/complicaciones , Síndrome de Hipersensibilidad a Medicamentos/etiología , Enterocolitis/inducido químicamente , Enterocolitis/diagnóstico , Eosinofilia/inducido químicamente , Eosinofilia/complicaciones , Enfermedad Injerto contra Huésped/complicaciones , Enfermedad Injerto contra Huésped/tratamiento farmacológico , Humanos , MasculinoAsunto(s)
Síndrome de Bandas Amnióticas/genética , Colágeno Tipo VII/genética , Epidermólisis Ampollosa Distrófica/genética , Síndrome de Bandas Amnióticas/diagnóstico , Tobillo , Epidermólisis Ampollosa Distrófica/diagnóstico , Padre , Pruebas Genéticas , Mano/diagnóstico por imagen , Humanos , Recién Nacido , Masculino , Mutación Missense , Mutación Puntual , Radiografía , Análisis de Secuencia de ADNRESUMEN
Hereditary palmoplantar keratoderma (PPK) is a heterogeneous group of disorders characterized by hyperkeratosis of the palm and the sole skin. Hereditary PPK are divided into four groups--diffuse, focal, striate and punctate PPK--according to the clinical patterns of the hyperkeratotic lesions. Each group includes simple PPK, without associated features, and PPK with associated features, such as involvement of nails, teeth and other organs. PPK have been classified by a clinically based descriptive system. In recent years, many causative genes of PPK have been identified, which has confirmed and/or rearranged the traditional classifications. It is now important to diagnose PPK by a combination of the traditional morphological classification and genetic testing. In this review, we focus on PPK without associated features and introduce their morphological features, genetic backgrounds and new findings from the last decade.
Asunto(s)
Queratodermia Palmoplantar/diagnóstico , Queratodermia Palmoplantar/genética , Diagnóstico Diferencial , Humanos , Queratodermia Palmoplantar/clasificación , Mutación , FenotipoAsunto(s)
Síndrome Nefrótico/diagnóstico , Enfermedades Raras/diagnóstico , Síndrome de la Uña Amarilla/complicaciones , Síndrome de la Uña Amarilla/diagnóstico , Adulto , Anticuerpos Monoclonales de Origen Murino/metabolismo , Bronquiolitis/diagnóstico por imagen , Bronquiolitis/tratamiento farmacológico , Bronquiolitis/etiología , Dermis/inmunología , Fatiga/etiología , Glucocorticoides/uso terapéutico , Humanos , Hipoalbuminemia/etiología , Riñón/patología , Masculino , Síndrome Nefrótico/sangre , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/patología , Prednisolona/uso terapéutico , Proteinuria/etiología , Enfermedades Raras/tratamiento farmacológico , Enfermedades Raras/microbiología , Enfermedades Raras/patología , Tocoferoles/uso terapéutico , Tomografía Computarizada por Rayos X , Vitaminas/uso terapéutico , Aumento de Peso , Síndrome de la Uña Amarilla/tratamiento farmacológico , Síndrome de la Uña Amarilla/patologíaRESUMEN
Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS.