Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 45
Filtrar
2.
Neurosciences (Riyadh) ; 26(2): 207-211, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33814375

RESUMEN

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder that is characterized by multiple dome-shaped cutaneous venous malformations on the skin and visceral organs. Typical extra-cutaneous lesions have the appearance of blueish nipple-shaped nodules that can easily compress and refill. We described a rare case of a 23-year-old female with BRBNS and tuberous sclerosis complex (TSC) that presented with central nervous system (CNS) involvement including unprovoked focal impaired awareness seizure. Her BRBNS presents with hemangiomas involving multiple organs in the body including the brain, gastrointestinal (GI) system, and skin. This case highlights the importance of studying and understanding the association between BRBNS and TSC as it may lead to improved understanding.


Asunto(s)
Encéfalo/diagnóstico por imagen , Neoplasias Gastrointestinales/complicaciones , Nevo Azul/complicaciones , Neoplasias Cutáneas/complicaciones , Esclerosis Tuberosa/complicaciones , Femenino , Neoplasias Gastrointestinales/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Nevo Azul/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Esclerosis Tuberosa/diagnóstico por imagen , Adulto Joven
4.
Am J Gastroenterol ; 116(5): 1044-1052, 2021 05 01.
Artículo en Inglés | MEDLINE | ID: mdl-33416235

RESUMEN

INTRODUCTION: Blue rubber bleb nevus syndrome (BRBNS) is a rare systemic venous malformation (VM) disease. The characteristic gastrointestinal (GI) bleeding from multiple VM lesions causes severe chronic anemia which renders most patients depend on lifelong blood transfusion and frequent endoscopic treatment with dismayed outcomes. Although recent case reports suggest that oral sirolimus (rapamycin) is effective, a comprehensive evaluation of its efficacy and safety is in need. METHODS: A prospective study was conducted for both pediatric and adult BRBNS patients with administration of sirolimus at the dose of 1.0 mg/m2 to maintain a trough concentration of 3-10 ng/mL. Laboratory tests including complete blood count, biochemical profile, D-dimer, and whole-body magnetic resonance imaging were performed at baseline and 3, 6, and 12 months after treatment. Clinical indicators such as hemoglobin level, lesion size, and transfusion need were evaluated. Adverse effects were recorded regularly. RESULTS: A total of 11 patients (4 males and 7 females) with median age of 14 (range, 5-49) years were recruited. The average lesion size was reduced by 7.4% (P < 0.001), 9.3% (P < 0.001), and 13.0% (P < 0.05) at 3, 6, and 12 months of sirolimus treatment, respectively. Hemoglobin increased significantly after 6- and 12-month treatment (P = 0.006 and 0.019, respectively). Only 1 patient received blood transfusion once during the study. Patients' quality of life and coagulation function were improved. Grade 1-2 adverse effects including oral ulcers (81.8%), acne (27.3%), transient elevation of liver enzymes (18.2%), and hair loss (9.1%) were observed. DISCUSSION: Sirolimus reduces the size of VMs, alleviates GI bleeding, and eliminates transfusion dependence of patients with BRBNS. The drug-related adverse effects are mild and mostly self-limited. These findings support sirolimus as a first-line treatment for GI and cutaneous VMs of BRBNS (see Visual abstract, Supplementary Digital Content, http://links.lww.com/AJG/B819).


Asunto(s)
Antibióticos Antineoplásicos/uso terapéutico , Neoplasias Gastrointestinales/tratamiento farmacológico , Nevo Azul/tratamiento farmacológico , Sirolimus/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico , Adolescente , Adulto , Transfusión de Componentes Sanguíneos/estadística & datos numéricos , Niño , Preescolar , China , Femenino , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Hemorragia Gastrointestinal/diagnóstico por imagen , Hemorragia Gastrointestinal/prevención & control , Neoplasias Gastrointestinales/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Nevo Azul/diagnóstico por imagen , Estudios Prospectivos , Neoplasias Cutáneas/diagnóstico por imagen , Imagen de Cuerpo Entero
5.
Int J Gynecol Pathol ; 40(4): 349-354, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-32925442

RESUMEN

A 37-yr-old woman presented to the gynecology clinic with abnormal uterine bleeding in the setting of known, large uterine fibroids. Preoperative endometrial biopsy identified atypical melanocytic cells concerning for uterine melanoma. Care was transferred to the gynecologic oncology service for hysterectomy. Intraoperative findings included macular, blue-black pigmentation of the peritoneum of the bladder and cervix, which was resected and sent for frozen section, confirming melanocytic neoplasia. The hysterectomy revealed multiple tan leiomyomas up to 12 cm, and a distinct 3 cm black, incompletely circumscribed mass in the endomyometrium composed of bland spindled cells with delicate melanin granules. The tumor cells were positive for Sox-10, BAP1, and Mart-1 (Melan-A) and negative for PRAME, PD-L1, and BRAFV600E by immunostains. Microscopic elements of similar melanocytes and melanophages were found in the cervix and bladder peritoneum. Molecular analysis of the uterine tumor identified a GNA11 mutation but no TERT or BAP1 mutation. The uterine melanocytic tumor has characteristic findings of a cellular blue nevus arising in association with dendritic melanocytosis of Mullerian and pelvic tissues, a rarely seen benign phenomenon that should be distinguished from malignant melanoma of the upper genital tract.


Asunto(s)
Subunidades alfa de la Proteína de Unión al GTP/genética , Leiomioma/diagnóstico por imagen , Melanoma/diagnóstico por imagen , Nevo Azul/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Uterinas/diagnóstico por imagen , Adulto , Cuello del Útero/patología , Diagnóstico Diferencial , Endometrio/diagnóstico por imagen , Endometrio/patología , Femenino , Humanos , Histerectomía , Leiomioma/patología , Leiomioma/cirugía , Melanocitos/patología , Melanoma/patología , Mutación , Nevo Azul/patología , Nevo Azul/cirugía , Pelvis/diagnóstico por imagen , Pelvis/patología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugía , Resultado del Tratamiento , Vejiga Urinaria/patología , Neoplasias Uterinas/patología
6.
J Eur Acad Dermatol Venereol ; 35(4): 900-905, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33274487

RESUMEN

BACKGROUND: Combined blue nevi (CBN) may mimic melanoma and are relatively often biopsied for diagnostic reasons. OBJECTIVE: To better characterize CBN and to compare it with melanoma. METHODS: We collected clinical and dermatoscopic images of 111 histologically confirmed CBN and contrasted their dermatoscopic characteristics with 132 partly blue coloured melanomas. Furthermore, we compared the accuracy of human experts using pattern analysis with a computer algorithm based on deep learning. RESULTS: Combined blue nevi are usually flat or slightly elevated and, in comparison with melanoma, more frequent on the head and neck. Dermatoscopically, they are typified by a blue structureless part in combination with either brown clods (n = 52, 46.8%), lines (n = 28, 25.2%) or skin-coloured or brown structureless areas (n = 31, 27.9%). In contrast with melanoma, the blue part of CBN is more often well defined (18.9% vs. 4.5%, P < 0.001) and more often located in the centre (22.5% vs. 5.3%, P < 0.001). Melanomas are more often chaotic (OR: 28.7, 95% CI: 14.8-55.7, P < 0.001), have at least one melanoma clue (OR: 10.8, 95% CI: 5.2-22.2 P < 0.001) in particular white lines (OR: 37.1, 95% CI: 13.4-102.9, P < 0.001). Using simplified pattern analysis (chaos and clues), two raters reached sensitivities of 93.9% (95% CI: 88.4-97.3%) and 92.4% (95% CI: 86.5-96.3%) at corresponding specificities of 59.5% (95% CI: 49.7-68.7%) and 65.8% (95% CI: 56.2-74.5%). The human accuracy with pattern analysis was on par with a state-of-the-art computer algorithm based on deep learning that achieved an area under the curve of (0.92, 95% CI: 0.87-0.96) and a specificity of 85.3% (95% CI: 76.5-91.7%) at a given sensitivity of 83.6% (95% CI: 72.5-91.5%). CONCLUSION: CBN usually lack melanoma clues, in particular white lines. The accuracy of pattern analysis for combined nevi is acceptable, and histopathologic confirmation may not be necessary in exemplary cases.


Asunto(s)
Melanoma , Nevo Azul , Neoplasias Cutáneas , Dermoscopía , Diagnóstico Diferencial , Humanos , Melanoma/diagnóstico por imagen , Nevo Azul/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen
8.
Orbit ; 39(4): 293-297, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31691617

RESUMEN

A 62-year-old white woman presented with a diagnosis of blue rubber bleb nevus syndrome (BRBNS). The right eye appeared enophthalmic, yet the patient complained of episodes of right proptosis on bending forward. The remainder of the examination was unremarkable. Orbital ultrasound (US) in an upright posture revealed a single low reflectivity cavity (4.27 mm x 2.82 mm) of uncertain interpretation. In a forward-leaning posture the lesion increased in size (maximum thickness of 13.72 mm), demonstrating multiple low reflectivity spaces with highly reflective septae. This case first reports the use of US with postural changes to assess the presence of orbital venous malformation in BRBNS. The expansile nature upon postural changes supports the venous origin of the orbital lesion.


Asunto(s)
Neoplasias Gastrointestinales/diagnóstico por imagen , Nevo Azul/diagnóstico por imagen , Órbita/irrigación sanguínea , Neoplasias Orbitales/diagnóstico por imagen , Postura , Neoplasias Cutáneas/diagnóstico por imagen , Malformaciones Vasculares/diagnóstico por imagen , Venas/anomalías , Femenino , Neoplasias Gastrointestinales/patología , Humanos , Persona de Mediana Edad , Nevo Azul/patología , Neoplasias Orbitales/patología , Neoplasias Cutáneas/patología , Ultrasonografía , Venas/diagnóstico por imagen
9.
Clin Exp Dermatol ; 45(1): 79-85, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31074881

RESUMEN

Blue rubber bleb naevus syndrome (BRBNS) is an extremely rare venous malformation that often manifests as multiple haemangioma-like lesions in the skin and gastrointestinal tract. The drug sirolimus plays a key role in the signalling pathway of angiogenesis and subsequent development of BRBNS and its use has been described in several case reports. We present a case series of four patients with BRBNS who exhibited good treatment response to sirolimus. All four patients were administered oral sirolimus at doses of 1.0-1.5 mg/m2 /day with a target drug level of 5-10 ng/mL and median treatment duration of 20 months. All patients had a reduction in the size of the lesions and a normalization of coagulopathy with tolerable drug adverse reactions at follow-up. Sirolimus may be effective and safe in paediatric patients with BRBNS. Further prospective studies are suggested to evaluate the long-term effectiveness of this drug.


Asunto(s)
Neoplasias Gastrointestinales/tratamiento farmacológico , Nevo Azul/tratamiento farmacológico , Sirolimus/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico , Administración Oral , Niño , Preescolar , Dermoscopía , Femenino , Neoplasias Gastrointestinales/diagnóstico por imagen , Neoplasias Gastrointestinales/patología , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Nevo Azul/diagnóstico por imagen , Nevo Azul/patología , Sirolimus/administración & dosificación , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/patología
10.
Rev. medica electron ; 41(2): 522-529, mar.-abr. 2019. graf
Artículo en Español | CUMED, LILACS | ID: biblio-1004284

RESUMEN

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.


ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.


Asunto(s)
Humanos , Femenino , Niño , Trastornos Psicomotores/diagnóstico , Síndrome , Nevo Azul/diagnóstico , Nevo Azul/microbiología , Nevo Azul/diagnóstico por imagen , Hemangioma/diagnóstico , Hemangioma/microbiología , Hemangioma/diagnóstico por imagen , Nevo Azul/rehabilitación , Epilepsia/diagnóstico
14.
Radiologia (Engl Ed) ; 61(2): 124-133, 2019.
Artículo en Inglés, Español | MEDLINE | ID: mdl-30292466

RESUMEN

Vascular malformations and tumors, also known as "vascular anomalies", comprise an extensive variety of lesions involving all parts of the body. Due to a lack of a complete understanding of the origin and histopathology of such lesions, this field has been traditionally obscured by the use of an unclear nomenclature. Knowledge of the classification and clinical and imaging characteristics of this group of lesions is paramount when managing these patients. The objective of this series of two articles is to review the current classification of vascular anomalies, to describe the role of imaging in their diagnosis, to summarize their distinctive histopathologic, clinical and imaging features, and to discuss the treatment options. High-flow lesions were discussed in the first article of this series. In this second article, we will focus on low-flow lesions, including complex syndromes with associated low-flow malformations.


Asunto(s)
Sistema Linfático/anomalías , Neoplasias de los Tejidos Blandos/diagnóstico por imagen , Malformaciones Vasculares/diagnóstico por imagen , Tejido Adiposo/irrigación sanguínea , Tejido Adiposo/diagnóstico por imagen , Humanos , Síndrome de Klippel-Trenaunay-Weber/diagnóstico por imagen , Sistema Linfático/diagnóstico por imagen , Nevo Azul/diagnóstico por imagen , Mancha Vino de Oporto/diagnóstico por imagen , Mancha Vino de Oporto/terapia , Síndrome de Proteo/patología , Flujo Sanguíneo Regional , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias de los Tejidos Blandos/clasificación , Neoplasias de los Tejidos Blandos/terapia , Síndrome de Sturge-Weber/diagnóstico por imagen , Malformaciones Vasculares/clasificación , Malformaciones Vasculares/terapia , Venas/anomalías
20.
Sci Rep ; 6: 36871, 2016 11 11.
Artículo en Inglés | MEDLINE | ID: mdl-27833147

RESUMEN

Pump-probe microscopy is an emerging technique that provides detailed chemical information of absorbers with sub-micrometer spatial resolution. Recent work has shown that the pump-probe signals from melanin in human skin cancers correlate well with clinical concern, but it has been difficult to infer the molecular origins of these differences. Here we develop a mathematical framework to describe the pump-probe dynamics of melanin in human pigmented tissue samples, which treats the ensemble of individual chromophores that make up melanin as Gaussian absorbers with bandwidth related via Frenkel excitons. Thus, observed signals result from an interplay between the spectral bandwidths of the individual underlying chromophores and spectral proximity of the pump and probe wavelengths. The model is tested using a dual-wavelength pump-probe approach and a novel signal processing method based on gnomonic projections. Results show signals can be described by a single linear transition path with different rates of progress for different individual pump-probe wavelength pairs. Moreover, the combined dual-wavelength data shows a nonlinear transition that supports our mathematical framework and the excitonic model to describe the optical properties of melanin. The novel gnomonic projection analysis can also be an attractive generic tool for analyzing mixing paths in biomolecular and analytical chemistry.


Asunto(s)
Melaninas/metabolismo , Melanoma/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Algoritmos , Humanos , Melanoma/metabolismo , Microscopía Confocal , Nevo Azul/diagnóstico por imagen , Nevo Azul/metabolismo , Piel/metabolismo , Neoplasias Cutáneas/metabolismo
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...