RESUMEN
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse.
Asunto(s)
Maltrato a los Niños/diagnóstico , Fracturas Múltiples/diagnóstico por imagen , Recien Nacido Prematuro , Síndrome del Pelo Ensortijado/diagnóstico , Diagnóstico Diferencial , Servicio de Urgencia en Hospital , Estudios de Seguimiento , Fracturas Múltiples/diagnóstico , Humanos , Lactante , Masculino , Síndrome del Pelo Ensortijado/diagnóstico por imagen , Radiografía/métodos , Medición de RiesgoRESUMEN
Lichen planus pigmentosus is a pigmentary disorder of unknown etiology, with diffuse hyperpigmentation of sun-exposed areas, more commonly seen in some ethnic and racial groups. We report an unusual case of lichen planus pigmentosus in a 40-year-old man with Fizpatrick type III skin that was present in a blaschkoid distribution on the trunk, a distribution that has been rarely reported. This unique presentation of lichen planus pigmentosus may contribute to better understanding of the etiology, as the blaschkoid distribution may reflect underlying cutaneous mosaicism that renders those cells more susceptible to an insult that results in lichen planus pigmentosus. This disorder should be considered in the differential diagnosis of macular hyperpigmentation, especially in those from more commonly affected ethnic and racial groups, even when the distribution is atypical and in the absence of history of sun exposure.
Asunto(s)
Hiperpigmentación/patología , Liquen Plano/patología , Adulto , Biopsia , Humanos , Masculino , Piel/patologíaRESUMEN
We report a case of probable Zaire Ebola virus-related ophthalmologic complications in a physician from the United States who contracted Ebola virus disease in Liberia. Uveitis, immune activation, and nonspecific increase in antibody titers developed during convalescence. This case highlights immune phenomena that could complicate management of Ebola virus disease-related uveitis during convalescence.
Asunto(s)
Ebolavirus , Fiebre Hemorrágica Ebola/complicaciones , Fiebre Hemorrágica Ebola/virología , Uveítis/diagnóstico , Uveítis/etiología , Ebolavirus/genética , Fiebre Hemorrágica Ebola/diagnóstico , Humanos , Liberia , Masculino , Tomografía de Coherencia Óptica , Uveítis/tratamiento farmacológicoRESUMEN
This report describes a 19-year-old patient with the rare association of macular retinoschisis and outer retinal hole formation with papillorenal syndrome. Initially diagnosed with transplant-related central serous chorioretinopathy, she presented several years later with worsening vision and distortion in her right eye. On examination, she was found to have bilateral optic nerve dysplasia, bilateral macular and extramacular retinoschisis, and a serous retinal detachment with outer hole formation in the right eye. A history of prior renal transplantation due to poor kidney development led to the diagnosis of papillorenal syndrome.