RESUMEN
Ultrasound and magnetic resonance imaging currently offer a detailed analysis of the peripheral nerves. Compressive and traumatic nerve injuries are the two main indications for imaging investigation of nerves with several publications describing the indications, technique and diagnostic capabilities of imaging signs. Investigation of entrapment neuropathies has three main goals, which are to confirm neuronal distress, search for the cause of nerve compression and exclude a differential diagnosis on the entire nerve. For traumatic nerve injuries, imaging, predominantly ultrasound, occasionally provides essential information for management including the type of nerve lesion, its exact site and local extension.
Asunto(s)
Codo/inervación , Mano/inervación , Síndromes de Compresión Nerviosa/diagnóstico , Traumatismos de los Nervios Periféricos/diagnóstico , Humanos , Imagen por Resonancia Magnética , Síndromes de Compresión Nerviosa/diagnóstico por imagen , Síndromes de Compresión Nerviosa/cirugía , Traumatismos de los Nervios Periféricos/diagnóstico por imagen , Traumatismos de los Nervios Periféricos/cirugía , Cuidados Preoperatorios , UltrasonografíaRESUMEN
We report a 9-year-old girl with a vulvar autoimmune bullous dermatosis. A diagnosis of localized bullous pemphigoid or cicatricial pemphigoid was made on the basis of immunohistologic data. Since the lesions were unresponsive to topical corticosteroids but healed completely on dapsone at a dosage of 1.5 mg/kg/day, we favor the diagnosis of vulvar cicatricial pemphigoid. Only two such cases have been reported thus far. The diagnostic criteria and therapeutic modalities are discussed.
Asunto(s)
Dapsona/administración & dosificación , Penfigoide Benigno de la Membrana Mucosa/tratamiento farmacológico , Enfermedades de la Vulva/tratamiento farmacológico , Niño , Femenino , HumanosRESUMEN
UNLABELLED: Symptomatic zinc deficiency can occur in exclusively breast-fed infants. We report a case in a preterm infant. CASE REPORT: A 3-months-old exclusively breast-fed premature infant presented with peri-orificial and acral eczematoid lesions. Laboratory investigations revealed lowered zinc levels in the infant's serum and in her mother's milk. A rapid healing occurred after oral zinc supplementation. DISCUSSION: Zinc deficiency in breast-fed infants is a rare disease caused by a low level of zinc in mother's milk. The clinical features resemble those of acrodermatitis enteropathica. Oral zinc supplementation is required until weaning.
Asunto(s)
Enfermedades del Prematuro/diagnóstico , Recien Nacido Prematuro , Zinc/deficiencia , Lactancia Materna , Eccema/etiología , Femenino , Humanos , Recién Nacido , Leche Humana/química , Zinc/análisis , Zinc/sangreAsunto(s)
Neoplasias Meníngeas/patología , Meningioma/secundario , Cuero Cabelludo , Neoplasias Cutáneas/secundario , Anciano , Neoplasias de Cabeza y Cuello/secundario , Humanos , Masculino , Meningioma/patología , Invasividad Neoplásica , Osteólisis/etiología , Neoplasias Cutáneas/patología , Cráneo/patologíaRESUMEN
Cutaneous metastases from hepatocellular carcinomas are rare, and their diagnosis may be difficult on histological grounds. We report a case of metastatic hepatocellular carcinoma to the skin that was confirmed immunohistochemically by the expression of a hepatomitochondria-specific antigen detectable on paraffin-embedded sections (Hep Par 1).
Asunto(s)
Anticuerpos Monoclonales , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/secundario , Inmunoglobulina G , Neoplasias Hepáticas/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/secundario , Adulto , Carcinoma Hepatocelular/patología , Femenino , Humanos , Inmunohistoquímica , Neoplasias Cutáneas/patologíaAsunto(s)
Erupciones por Medicamentos/patología , Fenindiona/análogos & derivados , Piel/patología , Adulto , Anticoagulantes/efectos adversos , Erupciones por Medicamentos/etiología , Fibrinolíticos/efectos adversos , Heparina de Bajo-Peso-Molecular/efectos adversos , Humanos , Masculino , Necrosis , Fenindiona/efectos adversos , TinzaparinaRESUMEN
We report a localized form of lymphomatoid papulosis (LyP) presenting as pustular papules of the hands. The histopathology revealed a moderate inflammatory infiltrate composed of atypical pleomorphic large lymphocytes with atypical mitosis and large nuclei. Epidermotropism could be observed. These atypical cells expressed CD4 and CD30. Laboratory examinations and bone marrow explorations remained negative. The clinical presentation of this case of LyP is unusual. Only histopathological features allowed to diagnose LyP. The knowledge that LyP may be associated with neoplasia or lymphoma underlines the need for a long-term follow-up of these patients.
Asunto(s)
Dermatosis de la Mano/patología , Papulosis Linfomatoide/patología , Humanos , Masculino , Persona de Mediana Edad , Piel/patologíaRESUMEN
INTRODUCTION: Familial hyperchylomicronemia is a rare autosomal recessive disease caused by lipoprotein lipase deficiency. CASE-REPORT: A nine month-old girl presented with eruptive xanthomas revealing a familial hyperchylomicronemia. No lipoprotein lipase activity was found. DNA analysis revealed a novel homozygous non-sense mutation of the lipoprotein lipase gene at the codon 288. The parents were heterozygous carriers. DISCUSSION: Familial hyperchylomicronemia usually presents with eruptiva xanthomas, abdominal pain, pancreatic manifestation and lipemia retinalis. Papulo-nodular xanthomas occur more frequently in children as in our case. Eighty lipoprotein lipase gene mutations have been recorded to date. The gene locates on chromosome 8. Only 9 non-sense mutations have been described which lead to a truncated protein. In our case, no enzymatic activity was detected probably due to an absence of secretion of the enzyme, even though catalytic activity persisted. The homozygous carrier status leads to hyperchylomicronemia whereas the heterozygote status may lead to mixed hyperlipidemia with an increased risk of atherosclerosis. The screening of lipoprotein lipase gene mutations should be carried out in all families with hyperchylomicronemia, regardless of the presence or absence of xanthomas.
Asunto(s)
Codón sin Sentido/genética , Hiperlipoproteinemia Tipo I/genética , Lipoproteína Lipasa/genética , Aberraciones Cromosómicas , Cromosomas Humanos Par 8 , Quilomicrones/sangre , Consanguinidad , Exones , Femenino , Genes Recesivos , Tamización de Portadores Genéticos , Homocigoto , Humanos , Lactante , Lipoproteína Lipasa/deficiencia , Lipoproteínas/sangre , Polimorfismo Conformacional Retorcido-Simple , Enfermedad de Wolman/genéticaRESUMEN
BACKGROUND: Peeling skin syndrome is a rare form of congenital ichthyosis. The term was coined in 1982 by Levy and Goldsmith and the syndrome is clinically characterized by generalized scaling. Histologically, there is an epidermal separation in the stratum corneum. CASE REPORT: We report the case of a 73-year-old woman who had ichthyosis without cicatricial progressive alopecia since her first pregnancy. An ultrastructural study was performed confirming the clinical diagnosis of peeling skin syndrome. DISCUSSION: The peeling skin syndrome designates several different clinical entities classed by Traupe in type A and type B. Mevorah and al. expanded this classification with a type C. This classification has remained valid after additional information provided by ultrastructural studies and may suggest different pathogenic mechanisms underlying the dermatosis. A critical review of the literature shows that the case reported here is exceptional and had a late clinical onset.
Asunto(s)
Ictiosis/diagnóstico , Adulto , Anciano , Femenino , Estudios de Seguimiento , Humanos , Ictiosis/clasificación , Ictiosis/patología , Microscopía Electrónica , Persona de Mediana Edad , Embarazo , Piel/patologíaRESUMEN
We report the case of a 69-year-old woman who presented a papular eruption on the eyelids. Histological features revealed a tuberculoid granuloma with a central caseating necrosis. Laboratory and radiological investigations revealed no tuberculosis and no systemic granulomatosis. Absence of vascular symptoms, inefficiency of cyclines and histopathological findings excluded granulomatous-type rosacea. Lupus miliaris disseminatus faciei (LMDF) was our final diagnosis. On the basis of our findings and a literature review, we believe that LMDF is an entity distinct from either skin tuberculosis or granulomatous-type rosacea. However, its name is confusing, and we propose to change it to 'facial idiopathic granulomas with regressive evolution (FIGURE)'.