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Síndrome CREST , Lengua , Humanos , Lengua/patología , Neoplasias de la Lengua/patología , Femenino , Anciano , Síndrome CREST/diagnósticoAsunto(s)
Citrus aurantiifolia/efectos adversos , Clobetasol/administración & dosificación , Mano , Trastornos por Fotosensibilidad , Fármacos Fotosensibilizantes/efectos adversos , Administración Tópica , Síndrome CREST/diagnóstico , Diagnóstico Diferencial , Femenino , Jugos de Frutas y Vegetales/efectos adversos , Glucocorticoides/administración & dosificación , Humanos , Lupus Eritematoso Cutáneo/diagnóstico , Persona de Mediana Edad , Trastornos por Fotosensibilidad/diagnóstico , Trastornos por Fotosensibilidad/etiología , Trastornos por Fotosensibilidad/fisiopatología , Trastornos por Fotosensibilidad/terapia , Estructuras de las Plantas/efectos adversosRESUMEN
Patients with PBC have at least 60% of probability to have an autoimmune extrahepatic condition. The pathogenesis of these conditions includes a common mechanism involving both innate and adaptive immune responses targeting cholangiocytes and different extrahepatic tissues. The recent EASL guidelines recommend the management of these conditions, although detailed practical treatments have not been indicated. Autoimmune extrahepatic conditions may include: rheumatologic, endocrine, pulmonary, gastrointestinal, dermatologic diseases. This review aims to focus the most important extrahepatic autoimmune conditions associated to PBC with practical recommendation regarding diagnostic approach and management.
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Enfermedades Autoinmunes/etiología , Cirrosis Hepática Biliar/complicaciones , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/etiología , Enfermedades Autoinmunes/diagnóstico , Síndrome CREST/diagnóstico , Síndrome CREST/etiología , Humanos , Cirrosis Hepática Biliar/diagnóstico , Enfermedades Pulmonares/diagnóstico , Enfermedades Pulmonares/etiología , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/etiología , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/etiología , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etiología , Enfermedades de la Tiroides/diagnóstico , Enfermedades de la Tiroides/etiologíaRESUMEN
Leg ulcers are not a disease themselves, they are a symptom of a disease. To manage them properly, finding the correct diagnosis of the disease is mandatory. Our case is a model to underline that leg ulcers are a significant burden for the patient, because leg ulcer got ahead of the patient's other serious complaints such as Raynaud's phenomenon or sclerodactyly. Furthermore, our patient is also a model, and an attentive clinical evaluation is inevitable to find the correct diagnosis. We present our case aiming to underline the significance of full dermatologic examination in each ulceration to discover underlying disease.
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Síndrome CREST/complicaciones , Calcinosis/complicaciones , Oxigenoterapia Hiperbárica/métodos , Úlcera de la Pierna/etiología , Úlcera de la Pierna/terapia , Trasplante de Piel/métodos , Anciano de 80 o más Años , Biopsia con Aguja , Síndrome CREST/diagnóstico , Calcinosis/diagnóstico , Terapia Combinada , Femenino , Humanos , Inmunohistoquímica , Úlcera de la Pierna/fisiopatología , Enfermedades Raras , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
A 57-year-old woman who had been arrested for shoplifting visited our hospital. She was diagnosed with kleptomania. She had previously been diagnosed with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and obsessive-compulsive disorder. Cranial magnetic resonance imaging showed mild atrophy of the bilateral dorsolateral prefrontal cortices, left hippocampus, and occipital cortex, as well as diffuse mild T2 hyperintensity in the deep and subcortical white matter, including the frontal region. During a single-photon emission computed tomography scan, significant hyperperfusion was observed in the right ventral striatum, including the nucleus accumbens, ventral thalamus, and right ventrolateral prefrontal areas. Patchy hypoperfusion was found in the bilateral posterior cingulate, parietal, and occipital regions. The patient's neurocognitive function was normal, except for slight impairment of her executive function. Her symptoms and neuroimaging findings were not suggestive of a specific neurocognitive disorder. Hyperactivity of the right ventral striatum may contribute to both obsessive-compulsive disorder and kleptomania. Although frontotemporal lobar degeneration is a major neurocognitive disorder related to illegal behaviours, CREST syndrome-induced white matter microstructural damage in the orbitofrontal lobe could have caused our patient's kleptomania.
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Encéfalo/diagnóstico por imagen , Trastornos Disruptivos, del Control de Impulso y de la Conducta/diagnóstico por imagen , Imagen por Resonancia Magnética , Trastorno Obsesivo Compulsivo/diagnóstico , Tomografía Computarizada de Emisión de Fotón Único , Atrofia/diagnóstico por imagen , Síndrome CREST/diagnóstico , Femenino , Humanos , Persona de Mediana Edad , Trastorno Obsesivo Compulsivo/complicacionesAsunto(s)
Síndrome CREST , Trastornos de la Motilidad Esofágica , Esclerodermia Limitada , Telangiectasia , Anticuerpos Antinucleares/sangre , Síndrome CREST/diagnóstico , Síndrome CREST/inmunología , Síndrome CREST/fisiopatología , Diagnóstico Diferencial , Trastornos de la Motilidad Esofágica/diagnóstico , Trastornos de la Motilidad Esofágica/etiología , Femenino , Humanos , Persona de Mediana Edad , Esclerodermia Limitada/diagnóstico , Esclerodermia Limitada/etiología , Telangiectasia/diagnóstico , Telangiectasia/etiologíaAsunto(s)
Enfermedades de las Vías Biliares/complicaciones , Enfermedades de las Vías Biliares/diagnóstico , Síndrome CREST/complicaciones , Síndrome CREST/diagnóstico , Colangitis/complicaciones , Colangitis/diagnóstico , Enfermedades de las Vías Biliares/patología , Colangitis/patología , Femenino , Humanos , Persona de Mediana EdadAsunto(s)
Síndrome CREST/diagnóstico , Esclerodermia Sistémica/diagnóstico , Adulto , Anciano , Europa (Continente) , Femenino , Humanos , Clasificación Internacional de Enfermedades , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Reumatología , Sensibilidad y Especificidad , Sociedades Médicas , Estados UnidosAsunto(s)
Síndrome CREST/diagnóstico , Ecocardiografía , Pautas de la Práctica en Medicina , Estrés Psicológico/etiología , Tomografía Computarizada por Rayos X , Procedimientos Innecesarios , Anciano , Síndrome CREST/complicaciones , Síndrome CREST/diagnóstico por imagen , Síndrome CREST/patología , Dilatación Patológica/diagnóstico por imagen , Dilatación Patológica/etiología , Esófago/diagnóstico por imagen , Esófago/patología , Femenino , Humanos , Nódulos Pulmonares Múltiples/diagnóstico por imagen , Nódulos Pulmonares Múltiples/etiología , Pautas de la Práctica en Medicina/normas , Pautas de la Práctica en Medicina/tendenciasRESUMEN
INTRODUCTION: Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia), dermatomyositis, systemic lupus erythematosus, ad myositis ossificans progressiva. CASE OUTLINE: We present the case of an eight-year old girl with tumorous soft tissue calcium deposits and Raynaud's phenomenon. At the age of 3.5 years, our patient was admitted to Pediatric Surgery Clinic because of bilateral acrocyanosis localized at the fingertips area of hands, with the signs of vascular trauma. Therapy with vasodilators and hyperbaric oxygen treatment were completed. This therapy resulted in improvement. At the age of eight, the patient was admitted again due to intermittent, painful cramps localized in both hands. Punctiform deposits were present at the tips of fingers and toes, which looked like calcifications and were spontaneously eliminated, with the remnants of crater-shaped defects. A hard tumorous deformity localized in soft tissue was present in the extensor area of the right elbow. Laboratory indicators of inflammation were within the reference values, and antinuclear antibodies were positive. A nodus localized at the right elbow was extirpated. Pathohistological findings: connective and fat tissue with large deposits of calcium. CONCLUSION: Further follow-up of our patient is necessary due to possible development of complete picture of CREST syndrome or systemic sclerosis.
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Calcinosis/complicaciones , Enfermedades del Tejido Conjuntivo/complicaciones , Enfermedad de Raynaud/complicaciones , Síndrome CREST/diagnóstico , Calcinosis/diagnóstico , Niño , Enfermedades del Tejido Conjuntivo/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/diagnóstico , Enfermedad de Raynaud/diagnóstico , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/diagnósticoRESUMEN
OBJECTIVE: The objective of the study is to determine the frequency and the clinical significance of autoantibodies to the pericentromeric heterochromatin protein 1 (HP1). So far this antinuclear antibody specificity has been mainly reported in patients with the CREST syndrome. METHODS: We screened the sera of 199 individuals, including patients suffering from various autoimmune disorders (Group I, n=145) and non autoimmune diseases (Group II, n=44 patients) as well as healthy individuals (Group III, n=30). The sera were systematically tested by Western blot and ELISA using a GST-HP1α fusion protein as an antigen. RESULTS: Anti-HP1 antibodies were detected in 32% of patients in Group I, 11.3% in Group II and 3.3% of individuals in Group III. They could be detected in sera containing or not antinuclear antibodies detectable by indirect immunofluorescence. Anti-HP1 antibodies were mostly associated with the CREST and Sjogren's syndromes (70% and 44.4%, respectively). They could also be detected in 22.2% of patients suffering from various other autoimmune diseases. However, their negative predictive value was 94% in the CREST syndrome. CONCLUSION: Anti-HP1 autoantibodies are associated with a large spectrum of disorders. However, they have a diagnostic value in the CREST syndrome.
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Anticuerpos Antinucleares/inmunología , Síndrome CREST/inmunología , Proteínas Cromosómicas no Histona/inmunología , Síndrome de Sjögren/inmunología , Adolescente , Adulto , Anciano , Síndrome Antifosfolípido/diagnóstico , Síndrome Antifosfolípido/inmunología , Artritis Reumatoide/diagnóstico , Artritis Reumatoide/inmunología , Autoanticuerpos/inmunología , Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Síndrome CREST/diagnóstico , Estudios de Casos y Controles , Homólogo de la Proteína Chromobox 5 , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/inmunología , Síndrome de Sjögren/diagnóstico , Adulto JovenRESUMEN
As a limited form of sclerodermy, CREST syndrome is characterized by calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia, which determine the acronym CREST. Calcinosis is a particularly difficult entity to treat given the paucity of effective options described in the literature. Treatment of finger calcinosis has a wide range of possibilities depending on the extent of calcifications and the involvement of deep structures. From a surgical point of view, whereas simple removal is adequate in minor outpatient cases, a radical debridement in the major and more painful cases seems required. A cover flap is needed particularly in the thumb due to its great functional importance, also if the fingertip is not involved. The authors recommend the kite flap for the dimensions, the tissue quality, and the possibility of giving sensation to the reconstructed area. With this surgical option, the transferred skin is soft, sensate, and the right fit. Usually, no further operations are needed for flap remodeling. The time required for sensory integration is about 2 years, often related to the age of the patient. Debridement and flap reconstruction usually give total resolution of pain, with complete recovery of thumb motion and the thumb-index finger grip.
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Síndrome CREST/cirugía , Calcinosis/cirugía , Procedimientos de Cirugía Plástica/métodos , Colgajos Quirúrgicos/trasplante , Pulgar/cirugía , Síndrome CREST/diagnóstico , Calcinosis/diagnóstico , Desbridamiento/métodos , Femenino , Supervivencia de Injerto , Humanos , Masculino , Recuperación de la Función , Medición de Riesgo , Índice de Severidad de la Enfermedad , Colgajos Quirúrgicos/irrigación sanguínea , Pulgar/fisiopatología , Resultado del Tratamiento , Cicatrización de Heridas/fisiologíaAsunto(s)
Síndrome CREST/fisiopatología , Demencia Vascular/etiología , Anciano , Anticuerpos Anticardiolipina/metabolismo , Anticuerpos Antinucleares/metabolismo , Trastorno Bipolar/psicología , Síndrome CREST/complicaciones , Síndrome CREST/diagnóstico , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/etiología , Demencia Vascular/diagnóstico , Diagnóstico Diferencial , Femenino , Hospitalización , Humanos , Cumplimiento de la Medicación , Pruebas Neuropsicológicas , Enfermedad de Raynaud/patologíaAsunto(s)
Síndrome CREST/diagnóstico , 2-Piridinilmetilsulfinilbencimidazoles/uso terapéutico , Antiulcerosos/uso terapéutico , Síndrome CREST/tratamiento farmacológico , Trastornos de Deglución/diagnóstico , Trastornos de Deglución/tratamiento farmacológico , Diagnóstico Diferencial , Femenino , Humanos , Inmunosupresores/uso terapéutico , Metotrexato/uso terapéutico , Persona de Mediana Edad , Pantoprazol , Enfermedad de Raynaud/diagnóstico , Enfermedad de Raynaud/tratamiento farmacológico , Telangiectasia/diagnóstico , Telangiectasia/tratamiento farmacológicoRESUMEN
Como esclerodermia, se designa un grupo de enfermedades y síndromes que tienen como característica común la induración y el engrosamiento cutáneos. El síndrome CREST (calcinosis, fenómeno de Raynaud, alteraciones de la motilidad esofágica, esclerodactilia y telangiectasias) es una forma limitada de esclerodermia. En esta modalidad de la entidad es típico que el síndrome de Raynaud anteceda en años a la presentación del resto de los síntomas de enfermedad. En él pueden aparecer manifestaciones de fibrosis insterticial pulmonar, la cual se evidencia clínicamente por estertores húmedos bibasales, muchas veces sin otra forma de expresión, causa hipertensión pulmonar y fallo miocárdico. Es una enfermedad rara, más frecuente en mujeres que en hombres, de 35 a 50 años de edad. Está descrita en ancianos, pero la forma de CREST es muy infrecuente después de los 25 años. El objetivo fue presentar el caso de una mujer de 55 años de edad con un síndrome de CREST, un cor pulmonale y una evolución favorable. Es una entidad poco frecuente, pero que frente a su evidencia clínica debe insistirse en el diagnóstico positivo. Se trata de un caso interesante pues cursó con hipertensión pulmonar, cor pulmonale y su evolución fue satisfactoria...
As scleroderma are called a group of diseases and syndromes having as a common characteristic the skin hardening and thickening. The CREST syndrome (calcinosis, Raynaud phenomena, alterations of the esophageal motility, sclerodactily and telangiectasia) is a limited form of scleroderma. In this modality of the entity, it is typical that Raynaud syndrome precedes in years the presentation of the rest of the disease symptoms. There may appear manifestations of interstitial pulmonary fibrosis, clinically evidenced by bibasilar humid rales, without any other clinical expression, and it causes pulmonary hypertension and myocardial failure. It is a rare disease, more frequent in women than in men, aged 35 to 50 years. It is described in elder people, but the CREST form is very infrequent after the age of 25. Our aim was presenting the case of a 55-years-old woman with the CREST syndrome, a cor pulmonale and a favorable evolution. It is a rarely frequent entity, but when there are clinical evidences, we should insist in the positive diagnosis. It is an interesting case because she presented pulmonary hypertension, cor pulmonale and developed successfully...
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Humanos , Femenino , Persona de Mediana Edad , Síndrome CREST/diagnóstico , Síndrome CREST/etiología , Síndrome CREST/patología , Síndrome CREST , Estudios ProspectivosAsunto(s)
Mano , Tenosinovitis/diagnóstico , Tuberculosis Osteoarticular/diagnóstico , Anciano , Antiinflamatorios/efectos adversos , Antiinflamatorios/uso terapéutico , Antihipertensivos/efectos adversos , Antihipertensivos/uso terapéutico , Antituberculosos/uso terapéutico , Bosentán , Síndrome CREST/diagnóstico , Síndrome CREST/tratamiento farmacológico , Terapia Combinada , Diagnóstico Diferencial , Femenino , Mano/cirugía , Humanos , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/tratamiento farmacológico , Infecciones Oportunistas/diagnóstico , Sulfonamidas/efectos adversos , Sulfonamidas/uso terapéutico , Tenosinovitis/tratamiento farmacológico , Tenosinovitis/cirugía , Tuberculosis Osteoarticular/tratamiento farmacológico , Tuberculosis Osteoarticular/cirugíaRESUMEN
CREST syndrome represents a subset of systemic sclerosis (SSc). Five patients with CREST syndrome and 5 with SSc without cardiac symptoms and with normal routine cardiac examination were investigated by cardiovascular magnetic resonance. All CREST patients had ectatic coronary arteries, and in 1 of them, an inferior, transmural myocardial infarction was identified. Furthermore, patchy fibrosis was identified in all the patients with SSc, although their coronary arteries were normal. Cardiovascular magnetic resonance can be a useful, noninvasive diagnostic tool in the evaluation of asymptomatic CREST and SSc patients.