RESUMEN
Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.
Asunto(s)
Encefalopatías Metabólicas Innatas/diagnóstico por imagen , Encefalopatías Metabólicas Innatas/fisiopatología , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Imagen por Resonancia Magnética/métodos , Púrpura/diagnóstico por imagen , Púrpura/fisiopatología , Accidente Cerebrovascular/diagnóstico por imagen , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Masculino , Accidente Cerebrovascular/fisiopatología , TiempoRESUMEN
This study standardized the methods used in the determination of orofacial injuries in Victorian family violence homicides and informed potential control selection for an analytic study. Dental service contacts with family violence victims may be intervention avenues due to the presence of abusive injuries in the orofacial region. All Victorian family homicides from January 2000-September 2018 were identified by determining the kinship/relationship and grouped by age. A 20% random sample of adult cases, aged 18-64 years was selected. The median number of orofacial injuries in categories of injury mechanisms/age/gender and the nature of abusive orofacial injuries was reported for the sample. Of 357 closed cases of family homicide, 261 were adults aged 18-64 years. Offender information and injury mechanism data was available for all closed cases, enabling case selection. Of a random sample of 50 adults, 8 cases were excluded. After 2006, CT scans and photos were present in 20 (91%) and 19 (86.4%) of 22 cases, respectively. The nature and median number of orofacial injuries showed correlation to the reported injury mechanism. Strengths and limitations of the used methods were assessed. Not all cases were compatible for assessment of orofacial injuries, thus serving as an additional criterion for exclusion in our methodology. Further detailed study of the whole population of adults should be limited to the period 2006-2018 where the data is more complete. The mechanism of injury may influence control selection for analytic studies. We present preliminary evidence of the frequent occurrence of orofacial injuries in family violence homicides.
Asunto(s)
Violencia Doméstica , Traumatismos Faciales/epidemiología , Medicina Legal/métodos , Homicidio , Traumatismos de los Dientes/epidemiología , Adolescente , Adulto , Asfixia/mortalidad , Asfixia/patología , Contusiones/mortalidad , Contusiones/patología , Traumatismos Faciales/diagnóstico por imagen , Traumatismos Faciales/patología , Femenino , Humanos , Laceraciones/mortalidad , Laceraciones/patología , Masculino , Persona de Mediana Edad , Traumatismos del Cuello/diagnóstico por imagen , Traumatismos del Cuello/epidemiología , Traumatismos del Cuello/patología , Fotograbar , Púrpura/diagnóstico por imagen , Púrpura/epidemiología , Púrpura/patología , Tomografía Computarizada por Rayos X , Traumatismos de los Dientes/diagnóstico por imagen , Traumatismos de los Dientes/patología , Victoria/epidemiología , Adulto JovenAsunto(s)
Púrpura/etiología , Escorbuto/complicaciones , Escorbuto/diagnóstico , Abdomen , Ácido Ascórbico/uso terapéutico , Dermoscopía , Extremidades , Humanos , Masculino , Persona de Mediana Edad , Púrpura/diagnóstico por imagen , Púrpura/patología , Escorbuto/tratamiento farmacológico , Vitaminas/uso terapéuticoAsunto(s)
Dermatosis de la Mano/diagnóstico por imagen , Hiperpigmentación/diagnóstico por imagen , Melanoma/diagnóstico por imagen , Púrpura/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Biopsia , Dermoscopía , Diagnóstico Diferencial , Femenino , Dermatosis de la Mano/patología , Humanos , Hiperpigmentación/complicaciones , Hiperpigmentación/patología , Persona de Mediana Edad , Púrpura/complicaciones , Púrpura/patología , Piel/patologíaRESUMEN
Cutaneous vascular lesions (VLs) represent a very common reason for dermatologic consultation for patients. In most cases, VLs are benign and self-limiting. However, because they often mimic malignant skin tumors, their correct and prompt identification is very important in daily practice. Dermoscopy may play a key role in achieving that purpose. This article reviews current knowledge of dermoscopic features of the most frequent VLs.
Asunto(s)
Angioqueratoma/diagnóstico por imagen , Dermoscopía , Hemangioma Capilar/diagnóstico por imagen , Síndromes Neoplásicos Hereditarios/diagnóstico por imagen , Sarcoma de Kaposi/diagnóstico por imagen , Enfermedades Cutáneas Vasculares/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Granuloma Piogénico/diagnóstico por imagen , Humanos , Trastornos de la Pigmentación/diagnóstico por imagen , Mancha Vino de Oporto/diagnóstico por imagen , Púrpura/diagnóstico por imagenAsunto(s)
Encefalopatías Metabólicas Innatas/diagnóstico , Leucoencefalopatías/diagnóstico , Púrpura/diagnóstico , Encefalopatías Metabólicas Innatas/diagnóstico por imagen , Encefalopatías Metabólicas Innatas/genética , Niño , Femenino , Humanos , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/genética , Imagen por Resonancia Magnética , Púrpura/diagnóstico por imagen , Púrpura/genéticaRESUMEN
A 50-year-old man with lung adenocarcinoma (c-T1aN2M1b) experienced reddish purpura mainly on the lower legs after receiving 12 cycles of second-line chemotherapy with docetaxel. There was tumor enlargement on computed tomography performed to assess the therapeutic response, so paraneoplastic IgA vasculitis was considered. IgA vasculitis was diagnosed based on a biopsy of the skin lesion and histology of an upper gastrointestinal hemorrhagic mucosal erosion. As IgA vasculitis can lead to serious gastrointestinal or systemic complications, IgA vasculitis should be considered as a differential diagnosis for rashes in patients with malignancy.
Asunto(s)
Adenocarcinoma/complicaciones , Exantema/inducido químicamente , Neoplasias Pulmonares/complicaciones , Síndromes Paraneoplásicos/inducido químicamente , Púrpura/inducido químicamente , Taxoides/efectos adversos , Taxoides/uso terapéutico , Vasculitis/inducido químicamente , Adenocarcinoma del Pulmón , Diagnóstico Diferencial , Docetaxel , Exantema/diagnóstico por imagen , Humanos , Inmunoglobulina A , Masculino , Persona de Mediana Edad , Síndromes Paraneoplásicos/diagnóstico por imagen , Síndromes Paraneoplásicos/terapia , Púrpura/diagnóstico por imagen , Resultado del Tratamiento , Vasculitis/diagnóstico por imagen , Vasculitis/terapiaRESUMEN
Ethylmalonic encephalopathy (EE) is an autosomal recessive devastating metabolic disorder affecting the brain, gastrointestinal tract, peripheral vessels and rarely the other vascular organs. We report a 10-month-old girl who presented as a meningococcemia clinic but later diagnosed ethylmalonic encephalopathy. Molecular analyses revealed a homozygous c.554 T > G; p. L185R mutation in ETHE1 gene. She was only partially benefited from riboflavine, coenzyme Q10, metronidazole, N-acetylcysteine and symptomatic treatment and discharged from hospital with the sequela of oxygene dependance and developmental delay. We observed N-acetylcysteine 100 mg/kg/day intravenous infusion theraphy may be the most important drug especially in comatous EE patients.
Asunto(s)
Acetilcisteína/uso terapéutico , Encefalopatías Metabólicas Innatas/tratamiento farmacológico , Púrpura/tratamiento farmacológico , Acetilcisteína/administración & dosificación , Encefalopatías Metabólicas Innatas/diagnóstico por imagen , Encefalopatías Metabólicas Innatas/metabolismo , Coma/tratamiento farmacológico , Coma/etiología , Femenino , Humanos , Lactante , Infusiones Intravenosas , Imagen por Resonancia Magnética , Malonatos , Proteínas Mitocondriales/genética , Proteínas de Transporte Nucleocitoplasmático/genética , Púrpura/diagnóstico por imagen , Púrpura/metabolismoRESUMEN
BACKGROUND:: Pigmented purpuric dermatosis is a chronic skin disorder of unknown aetiology characterised by symmetrical petechial and pigmented macules, often confined to the lower limbs. The aetiology of pigmented purpuric dermatosis is unknown. Dermatoscopy is a non-invasive diagnostic technique that allows the visualisation of morphological features invisible to the naked eye; it combines a method that renders the corneal layer of the skin translucent with an optical system that magnifies the image projected onto the retina. OBJECTIVES:: The aim of this study is to investigate the dermatoscopic findings of pigmented purpuric dermatosis. METHODS:: This study enrolled patients diagnosed histopathologically with pigmented purpuric dermatosis who had dermatoscopic records. We reviewed the dermatoscopic images of PPD patients who attended the outpatient clinic in the Istanbul Dermatovenereology Department at the Bezmialem Vakif University Medical Faculty. RESULTS:: Dermatoscopy showed: coppery-red pigmentation (97%, n = 31) in the background, a brown network (34%, n = 11), linear vessels (22%, n = 7), round to oval red dots, globules, and patches (69%, n = 22; 75%, n = 24; 34%, n = 11; respectively), brown globules (26%, n = 8) and dots (53%, n = 17), linear brown lines (22%, n = 7), and follicular openings (13%, n = 4). CONCLUSION:: To our knowledge, this is the first study to report the dermatoscopy of pigmented purpuric dermatosis. In our opinion, dermatoscopy can be useful in the diagnosis of pigmented purpuric dermatosis.
Asunto(s)
Dermoscopía/métodos , Trastornos de la Pigmentación/diagnóstico por imagen , Púrpura/diagnóstico por imagen , Adolescente , Adulto , Anciano , LDL-Colesterol/sangre , Femenino , Humanos , Masculino , Registros Médicos , Persona de Mediana Edad , Trastornos de la Pigmentación/patología , Púrpura/patología , Adulto JovenRESUMEN
Abstract: Background: Pigmented purpuric dermatosis is a chronic skin disorder of unknown aetiology characterised by symmetrical petechial and pigmented macules, often confined to the lower limbs. The aetiology of pigmented purpuric dermatosis is unknown. Dermatoscopy is a non-invasive diagnostic technique that allows the visualisation of morphological features invisible to the naked eye; it combines a method that renders the corneal layer of the skin translucent with an optical system that magnifies the image projected onto the retina. Objectives: The aim of this study is to investigate the dermatoscopic findings of pigmented purpuric dermatosis. Methods: This study enrolled patients diagnosed histopathologically with pigmented purpuric dermatosis who had dermatoscopic records. We reviewed the dermatoscopic images of PPD patients who attended the outpatient clinic in the Istanbul Dermatovenereology Department at the Bezmialem Vakıf University Medical Faculty. Results: Dermatoscopy showed: coppery-red pigmentation (97%, n = 31) in the background, a brown network (34%, n = 11), linear vessels (22%, n = 7), round to oval red dots, globules, and patches (69%, n = 22; 75%, n = 24; 34%, n = 11; respectively), brown globules (26%, n = 8) and dots (53%, n = 17), linear brown lines (22%, n = 7), and follicular openings (13%, n = 4). Conclusion: To our knowledge, this is the first study to report the dermatoscopy of pigmented purpuric dermatosis. In our opinion, dermatoscopy can be useful in the diagnosis of pigmented purpuric dermatosis.
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Anciano , Adulto Joven , Trastornos de la Pigmentación/diagnóstico por imagen , Púrpura/diagnóstico por imagen , Dermoscopía/métodos , Trastornos de la Pigmentación/patología , Púrpura/patología , Registros Médicos , LDL-Colesterol/sangreRESUMEN
Ethylmalonic encephalopathy is an inborn error of metabolism characterized by encephalopathy, petechiae chronic diarrhea and acrocyanosis. Imaging findings include patchy signal changes in the basal ganglia, periaqueductal region, subcortical white matter and cerebellum. We describe the novel finding of diffusion restriction in brain lesions, in a proven case of ethylmalonic encephalopathy.
Asunto(s)
Encefalopatías Metabólicas Innatas/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Imagen de Difusión por Resonancia Magnética , Púrpura/diagnóstico por imagen , Encefalopatías Metabólicas Innatas/tratamiento farmacológico , Encefalopatías Metabólicas Innatas/patología , Diagnóstico Diferencial , Exantema/patología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Pierna/patología , Púrpura/tratamiento farmacológico , Púrpura/patologíaAsunto(s)
Angioqueratoma/diagnóstico por imagen , Carcinoma de Células Escamosas/diagnóstico por imagen , Dermoscopía , Hemangioma/diagnóstico por imagen , Melanoma/diagnóstico por imagen , Nevo Pigmentado/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Enfermedades de la Vulva/diagnóstico por imagen , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Hiperpigmentación/diagnóstico por imagen , Queratosis Seborreica/diagnóstico por imagen , Persona de Mediana Edad , Púrpura/diagnóstico por imagen , Vulva/diagnóstico por imagen , Adulto JovenRESUMEN
Primary systemic amyloidosis is a relatively rare disease, caused when abnormal extracellular deposition of fibrillary protein builds up in a variety of target organs, such as heart, kidneys, lungs liver, and so forth. The symptoms of the disease are usually vague, while many kinds of auxiliary or laboratory examinations especially pathologic biopsy can provide a clue for the diagnosis. Here we described a case who had purpura-like lesions in the initial stage, followed by progressive malfunctions in the kidneys, the heart, the lungs, as well as the liver. The final diagnosis was primary systemic amyloidosis determined by skin pathologic biopsy. And the disease led to a fatal outcome within three months after the diagnosis.
Asunto(s)
Amiloidosis/diagnóstico , Púrpura/patología , Amiloidosis/complicaciones , Amiloidosis/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Púrpura/diagnóstico por imagen , Púrpura/etiología , UltrasonografíaRESUMEN
Anesthetized hairless mice were exposed to continuous or pulsed 1.09-MHz ultrasound with or without prior injection of a gas-body-based ultrasound contrast agent. Albunex at a dose of 10 mL/kg increased the production of intestinal hyperemia, petechia and hemorrhages by continuous ultrasound. For pulsed ultrasound, with 10 micros pulses and 0.01 duty cycle, petechiae were produced for exposures as low as 1 MPa spatial peak pressure amplitude with added gas bodies. The enhancement of petechiae production was robust for pulsed exposure; for example, at 2.8 MPa, an average of 227 petechiae was obtained with added gas bodies, which was 30 times more than without the agent. The production of petechia was roughly proportional to the dosage of Albunex for pulsed exposure. Results did not appear to be strongly dependent on pulsing parameters, but long bursts (0.1 s) were somewhat more effective than pulses (10 micros). The observed vascular bioeffects appeared to involve both thermal and nonthermal mechanisms for continuous exposure, but to result primarily from gas-body activation for pulsed exposure.
Asunto(s)
Albúminas/toxicidad , Medios de Contraste/toxicidad , Hemorragia Gastrointestinal/inducido químicamente , Hiperemia/inducido químicamente , Intestinos/diagnóstico por imagen , Púrpura/inducido químicamente , Animales , Vasos Sanguíneos/efectos de los fármacos , Relación Dosis-Respuesta a Droga , Hemorragia Gastrointestinal/diagnóstico por imagen , Hiperemia/diagnóstico por imagen , Enfermedades Intestinales/inducido químicamente , Enfermedades Intestinales/diagnóstico por imagen , Intestinos/irrigación sanguínea , Intestinos/efectos de los fármacos , Masculino , Ratones , Ratones Pelados , Púrpura/diagnóstico por imagen , UltrasonografíaAsunto(s)
Cefalea/etiología , Hematoma Subdural/virología , Dengue Grave/complicaciones , Adulto , Encéfalo/diagnóstico por imagen , Cefalea/diagnóstico por imagen , Hematoma Subdural/diagnóstico por imagen , Humanos , Masculino , Púrpura/diagnóstico por imagen , Púrpura/virología , Dengue Grave/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Tc-HMPAO isotope brain scans were performed in three patients who received hyperbaric oxygen treatment following carbon monoxide poisoning. Cerebral perfusion imaging provides an index of severity of the initial cerebral damage which correlated with outcome.
Asunto(s)
Encéfalo/diagnóstico por imagen , Intoxicación por Monóxido de Carbono/diagnóstico por imagen , Oxigenoterapia Hiperbárica , Compuestos de Organotecnecio , Oximas , Radiofármacos , Adulto , Intoxicación por Monóxido de Carbono/terapia , Hemorragia Cerebral/diagnóstico por imagen , Infarto Cerebral/diagnóstico por imagen , Circulación Cerebrovascular , Resultado Fatal , Femenino , Predicción , Humanos , Masculino , Púrpura/diagnóstico por imagen , Cintigrafía , Exametazima de Tecnecio Tc 99m , Resultado del TratamientoRESUMEN
Two cases with brain purpura following Gram-negative septicaemia were examined morphologically and immunohistochemically. The brain lesions, including ball and ring haemorrhages, a few days old, with some microglial cells accumulated around the older foci, were restricted to the white matter. Immunohistochemically, scanty deposits of IgG, IgA and IgM mainly in the macrophages in brain, kidneys and lungs were found, whereas staining with antibodies directed against IgE and complement (C3, C4) remained negative. In the brain, immunoglobulin deposits were located mainly in the macrophages, furthermore, in and around the walls of a few intact (non-haemorrhagic) vessels; within the perivascular haemorrhagic foci no deposits could be demonstrated. The relevance of these observations to the pathogenesis of brain purpura is discussed.
Asunto(s)
Bacteriemia/patología , Hemorragia Cerebral/patología , Infecciones por Pseudomonas/patología , Púrpura/patología , Bacteriemia/complicaciones , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/etiología , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Masculino , Persona de Mediana Edad , Infecciones por Pseudomonas/complicaciones , Púrpura/diagnóstico por imagen , Púrpura/etiología , Tomografía Computarizada por Rayos XRESUMEN
The angiographic findings in a patient with peliosis hepatitis are described. Histologically, multiple blood-filled cystic spaces are seen, often communicating with the hepatic sinusoids. There is evidence that steroid therapy may be a causative factor. The differential diagnosis is discussed.