RESUMEN
BACKGROUND: Telangiectatic osteosarcoma is rare and it rarely affects flat bones, especially the bones of the pelvis. It is uncommon for telangiectatic osteosarcoma to be considered as a differential diagnosis when assessing a large intrabdominal mass. CASE REPORT: We present our case of a 33-year-old African female who presented with a sizeable telangiectatic osteosarcoma of the left iliac bone. She reported a 3-year duration of a painless, slow-growing mass arising from the left flank. At examination, a large bony hard mass extending from the left ilium to the umbilicus was noted, almost mimicking an intra-abdominal pregnancy. All laboratory tests were within normal limits and an unconventional surgical approach was used for a one-stage excision of the tumor without complications. The definitive histopathological diagnosis postexcision was that of a telangiectatic osteosarcoma only on the second review of the histological specimen. CONCLUSIONS: Pelvic telangiectatic osteosarcoma is rare, and the ilium is the commonly affected pelvic bone. These tumors can be sizeable at presentation with intra-abdominal or pelvic extension with a high chance of misdiagnosis. Fortunately surrounding soft tissue involvement seems to be a rare and late finding when present.
Asunto(s)
Neoplasias Óseas , Ilion , Osteosarcoma , Telangiectasia , Humanos , Femenino , Osteosarcoma/patología , Osteosarcoma/diagnóstico por imagen , Osteosarcoma/cirugía , Osteosarcoma/diagnóstico , Adulto , Telangiectasia/patología , Telangiectasia/diagnóstico , Neoplasias Óseas/patología , Neoplasias Óseas/cirugía , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/diagnóstico , Ilion/patología , Ilion/diagnóstico por imagen , Diagnóstico Diferencial , Tomografía Computarizada por Rayos XRESUMEN
Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment.
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Livedo Reticularis , Enfermedades Cutáneas Vasculares , Telangiectasia , Humanos , Femenino , Telangiectasia/congénito , Telangiectasia/complicaciones , Telangiectasia/diagnóstico , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/complicaciones , Lactante , Coagulación con Láser/métodos , Vasos Retinianos/anomalías , Vasos Retinianos/diagnóstico por imagen , Retina/anomalías , Retina/diagnóstico por imagenAsunto(s)
Malformaciones Arteriovenosas , Disnea , Epistaxis , Humanos , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/diagnóstico por imagen , Malformaciones Arteriovenosas/diagnóstico , Disnea/etiología , Disnea/diagnóstico , Epistaxis/etiología , Epistaxis/diagnóstico , Telangiectasia/complicaciones , Telangiectasia/diagnóstico , Tomografía Computarizada por Rayos XAsunto(s)
Livedo Reticularis , Enfermedades Cutáneas Vasculares , Telangiectasia , Humanos , Telangiectasia/congénito , Telangiectasia/diagnóstico , Livedo Reticularis/diagnóstico , Recién Nacido , Enfermedades Cutáneas Vasculares/diagnóstico , Enfermedades Cutáneas Vasculares/congénito , Masculino , FemeninoRESUMEN
In recent years, deep learning (DL) has been used extensively and successfully to diagnose different cancers in dermoscopic images. However, most approaches lack clinical inputs supported by dermatologists that could aid in higher accuracy and explainability. To dermatologists, the presence of telangiectasia, or narrow blood vessels that typically appear serpiginous or arborizing, is a critical indicator of basal cell carcinoma (BCC). Exploiting the feature information present in telangiectasia through a combination of DL-based techniques could create a pathway for both, improving DL results as well as aiding dermatologists in BCC diagnosis. This study demonstrates a novel "fusion" technique for BCC vs non-BCC classification using ensemble learning on a combination of (a) handcrafted features from semantically segmented telangiectasia (U-Net-based) and (b) deep learning features generated from whole lesion images (EfficientNet-B5-based). This fusion method achieves a binary classification accuracy of 97.2%, with a 1.3% improvement over the corresponding DL-only model, on a holdout test set of 395 images. An increase of 3.7% in sensitivity, 1.5% in specificity, and 1.5% in precision along with an AUC of 0.99 was also achieved. Metric improvements were demonstrated in three stages: (1) the addition of handcrafted telangiectasia features to deep learning features, (2) including areas near telangiectasia (surround areas), (3) discarding the noisy lower-importance features through feature importance. Another novel approach to feature finding with weak annotations through the examination of the surrounding areas of telangiectasia is offered in this study. The experimental results show state-of-the-art accuracy and precision in the diagnosis of BCC, compared to three benchmark techniques. Further exploration of deep learning techniques for individual dermoscopy feature detection is warranted.
Asunto(s)
Carcinoma Basocelular , Aprendizaje Profundo , Neoplasias Cutáneas , Telangiectasia , Humanos , Carcinoma Basocelular/diagnóstico por imagen , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/diagnóstico por imagen , Neoplasias Cutáneas/patología , Telangiectasia/diagnóstico por imagen , Telangiectasia/patología , Telangiectasia/diagnóstico , Interpretación de Imagen Asistida por Computador/métodos , Dermoscopía/métodos , Sensibilidad y EspecificidadAsunto(s)
Ascitis , Inmunoglobulina M , Paraproteinemias , Policitemia , Telangiectasia , Anciano , Humanos , Persona de Mediana Edad , Ascitis/etiología , Ascitis/diagnóstico , Ascitis/patología , Inmunoglobulina M/sangre , Paraproteinemias/diagnóstico , Paraproteinemias/complicaciones , Policitemia/diagnóstico , Policitemia/etiología , Policitemia/complicaciones , Síndrome , Telangiectasia/diagnóstico , Telangiectasia/etiología , Telangiectasia/patologíaRESUMEN
Capillary malformations (CMs) are the most common type of vascular anomalies, affecting around 0.3% of newborns. They are usually caused by somatic pathogenic variants in GNAQ or GNA11. PIK3CA and PIK3R1, part of the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin pathway, are mutated in fainter CMs such as diffuse CM with overgrowth and megalencephaly CM. In this study, we present two young patients with a CM-like phenotype associated with cerebral anomalies and severe epilepsy. Pathogenic variants in PIK3CA and PIK3R1, as well as GNAQ and GNA11, were absent in affected cutaneous tissue biopsies. Instead, we identified two somatic pathogenic variants in the AKT3 gene. Subsequent analysis of the DNA obtained from surgically resected brain tissue of one of the two patients confirmed the presence of the AKT3 variant. Focal cortical dysplasia was also detected in this patient. Genetic analysis thus facilitated workup to reach a precise diagnosis for these patients, associating the vascular anomaly with the neurological symptoms. This study underscores the importance of searching for additional signs and symptoms to guide the diagnostic workup, especially in cases with atypical vascular malformations. In addition, it strongly emphasizes the significance of genotype-phenotype correlation studies in guiding clinicians' informed decision-making regarding patient care.
Asunto(s)
Capilares , Epilepsia , Proteínas Proto-Oncogénicas c-akt , Telangiectasia , Malformaciones Vasculares , Femenino , Humanos , Recién Nacido , Masculino , Capilares/anomalías , Capilares/patología , Epilepsia/genética , Epilepsia/patología , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mosaicismo , Mutación/genética , Fenotipo , Proteínas Proto-Oncogénicas c-akt/genética , Telangiectasia/genética , Telangiectasia/patología , Telangiectasia/diagnóstico , Malformaciones Vasculares/genética , Malformaciones Vasculares/patología , Malformaciones Vasculares/diagnóstico , Malformaciones Vasculares/complicaciones , AdolescenteAsunto(s)
Humanos , Masculino , Lactante , Telangiectasia/diagnóstico , Livedo Reticularis/diagnósticoRESUMEN
Introducción: El síndrome de Peutz-Jeghers se caracteriza por hiperpigmentación mucocutánea y hamartomas gastrointestinales que pueden aparecer desde el estómago hasta el ano. Tiene un patrón de herencia autosómico dominante y expresividad variable. El diagnóstico se basa en los hallazgos clínicos y la apariencia histológica de los pólipos. No ha sido reportado hasta ahora asociación de esta entidad a telangiectasias y prolapso de la válvula mitral. Objetivo: Describir los hallazgos que permitieron establecer el diagnóstico de Síndrome de Peutz-Jeghers en un paciente y brindar asesoramiento genético. Presentación del caso: Paciente masculino de 36 años de edad con antecedentes de prolapso de la válvula mitral que acude a consulta de genética clínica con su esposa para solicitar asesoramiento genético, debido a que tienen una hija con diagnóstico de Síndrome de Peutz-Jeghers y desean conocer el riesgo de tener otro hijo afectado. Al examen físico se observa mácula hiperpigmentada en labio inferior y varias de estas en encías. Con tales hallazgos y el antecedente de tener la hija Síndrome de Peutz-Jeghers se emite el mismo diagnóstico en el padre. Como dato de interés se constatan en este individuo múltiples telangiectasias en tórax, cuello y espalda. Los estudios realizados en busca de la causa de estas fueron negativos. Conclusiones: Los antecedentes y los hallazgos encontrados en el paciente permitieron realizar el diagnóstico de Peutz-Jeghers y brindar asesoramiento genético. Se presenta el primer reporte de esta enfermedad asociada a telangiectasias y prolapso de la válvula mitral en la literatura científica(AU)
Introduction: Peutz-Jeghers syndrome is characterized by mucocutaneous hyperpigmentation and gastrointestinal hamartomas that can appear from the stomach to the anus. It has an autosomal dominant inheritance pattern and variable expressiveness. The diagnosis is based on clinical findings and histological appearance of the polyps. No association between this entity and telangiectasias and mitral valve prolapse has been reported so far. Objective: To describe the findings that made it possible to establish the diagnosis of Peutz-Jeghers syndrome in a patient and to provide genetic counseling. Case presentation: Thirty-six-year-old male patient with a history of mitral valve prolapse who attends a clinical genetics consultation with his wife to request genetic counseling due to the fact that their daughter was diagnosed with Peutz-Jeghers Syndrome and they want to know about the risk of having another affected child. On physical examination, a hyperpigmented macule on the lower lip and several of these on the gums were observed. With such findings and the antecedent of having a daughter with Peutz-Jeghers syndrome, the same diagnosis is made in the father. As data of interest, multiple telangiectasias on the thorax, neck and back were found in this individual. The studies carried out to identify the same cause were negative. Conclusions: The history and findings in this patient allowed us to make the diagnosis of Peutz-Jeghers syndrome as well as to provide genetic counselling. The first report of this disease associated with telangiectasias and mitral valve prolapse is presented in the scientific literature(AU)
Asunto(s)
Humanos , Masculino , Adulto , Telangiectasia/diagnóstico , Síndrome de Peutz-Jeghers/genética , Prolapso de la Válvula Mitral , Hiperpigmentación , Asesoramiento Genético/ética , Genética , Patrón de Herencia/fisiologíaRESUMEN
El xantogranuloma juvenil es un trastorno benigno poco frecuente, que pertenece al amplio grupo de las histiocitosis de células no Langerhans. Se presenta con uno o más nódulos eritematosos o amarillentos, ubicados preferentemente en la cabeza y el cuello. La mayoría de los casos se inician durante el primer año de vida, incluyendo lesiones congénitas. La afectación extracutánea es rara, sugiriéndose tradicionalmente en la literatura estudiar el compromiso ocular. El diagnóstico del xantogranuloma juvenil es fundamentalmente clínico, sin embargo, en ocasiones se requiere confirmarlo con biopsia de piel. Las lesiones cutáneas son autolimitadas, por lo que suelen no requerir tratamiento. En la presente revisión se describen los distintos aspectos clínicos y terapéuticos de esta enfermedad, resaltando la evidencia respecto al estudio diagnóstico del compromiso extracutáneo
Juvenile xanthogranulomas (JXGs) are rare, benign lesions that belong to the large group of non-Langerhans cell histiocytoses. JXG presents with 1 or more erythematous or yellowish nodules that are usually located on the head or neck. Most JXG lesions are congenital or appear during the first year of life. Extracutaneous involvement is rare, but the literature traditionally suggests investigating the possibility of ocular compromise. JXG is mainly a clinical diagnosis, but a skin biopsy may sometimes be needed for confirmation. JXGs on the skin are self-limiting and usually do not require treatment. This review describes the clinical and therapeutic aspects of JXG, emphasizing available evidence and the diagnosis of extracutaneous involvement
Asunto(s)
Humanos , Masculino , Femenino , Lactante , Xantogranuloma Juvenil/diagnóstico , Xantogranuloma Juvenil/epidemiología , Xantogranuloma Juvenil/clasificación , Inmunohistoquímica , Telangiectasia/diagnóstico , Biopsia , Piel/patología , Ultrasonografía Doppler , Diagnóstico Diferencial , Xantogranuloma Juvenil/terapiaRESUMEN
ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.
RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.
Asunto(s)
Humanos , Masculino , Niño , Anomalías del Ojo/diagnóstico , Glaucoma/diagnóstico , Síndromes de Tricotiodistrofia/diagnóstico , Telangiectasia/diagnóstico , Trabeculectomía , Anomalías del Ojo/cirugía , Glaucoma/cirugía , Eritema/diagnóstico , Presión IntraocularRESUMEN
A escleroterapia continua sendo um dos procedimentos mais executados pelos cirurgiões vasculares brasileiros. O conhecimento das suas complicações é imprescindível para que possamos evitá-las. Os efeitos colaterais graves desse método de tratamento para as telangiectasias dos membros inferiores são raros e frequentemente associados a um erro técnico ou à dosagem injetada. São predominantemente locais, apresentando-se, algumas vezes, como uma situação de difícil resolução. Relatamos um caso de formação de necrose cutânea após escleroterapia química com glicose hipertônica (75%) e sua cicatrização utilizando preparação tópica contendo vaselina e glicose 60%, cujo resultado estético foi satisfatório
Sclerotherapy remains one of the procedures most frequently performed by Brazilian vascular surgeons. Knowledge of its complications is indispensable to enable us to avoid them. The severe side effects of this method of treatment for telangiectasias of the lower limbs are rare and are often associated with technical errors or the dose injected. Complications are predominantly local, but are sometimes difficult to resolve. We report a case of formation of cutaneous necrosis after chemical sclerotherapy using hypertonic glucose (75%), which healed when treated with a topical preparation containing vaseline and 60% glucose, with satisfactory esthetic results
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Telangiectasia/diagnóstico , Glucosa , Necrosis/complicaciones , Vaselina/uso terapéutico , Soluciones Esclerosantes/uso terapéutico , Úlcera Cutánea/diagnóstico , Úlcera Cutánea/terapia , Várices/terapia , Cicatrización de Heridas , Fibrosis , Escleroterapia/métodos , Ecocardiografía Doppler en Color/métodos , Extremidad Inferior , EritemaRESUMEN
Resumen: Introducción: El osteosarcoma es uno de los tipos de cáncer más común en la etapa escolar y en la adolescencia, y es el más común de los tumores óseos malignos en este grupo de edad. Frecuentemente, el osteosarcoma es hallado en los huesos largos de las extremidades. Existen muy pocos casos descritos en menores de 5 años. Hasta donde se sabe, no hay ningún caso reportado en lactantes. La variedad telangiectásica es poco común y no existen casos reportados antes de la edad preescolar. Caso clínico: Se presenta el caso clínico de una paciente lactante de 10 meses de edad que presentó un tumor lítico en la novena costilla derecha, que posterior a la resección fue clasificado como osteosarcoma telangiectásico. Conclusiones: El osteosarcoma telangiectásico en la edad pediátrica es poco común. A la fecha, la paciente ha presentado buena respuesta al tratamiento, aunque se desconoce el pronóstico y la supervivencia de este padecimiento.
Abstract: Background: Osteosarcoma is one of the most common types of cancer in childhood and adolescence and it is the most common malignant bone tumor in this group of age. Osteosarcoma is frequently found in long bones of the extremities. There are very few cases described in children under 5 years of age, and according to this review, none in infants. The telangiectatic variant is uncommon, and there are no reported cases before preschool age. Case report: A 10-month-old female infant with a lithic tumor of the ninth right rib, which was classified after resection as a telangiectatic osteosarcoma, is presented. Conclusions: Telangiectatic osteosarcoma in the pediatric age is very uncommon. To date, the patient has presented good response to treatment, although the prognosis and survival of this condition is unknown.
Asunto(s)
Femenino , Humanos , Lactante , Telangiectasia/diagnóstico , Neoplasias Óseas/diagnóstico , Osteosarcoma/diagnóstico , Pronóstico , Costillas/patología , Telangiectasia/patología , Neoplasias Óseas/cirugía , Neoplasias Óseas/patología , Osteosarcoma/cirugía , Osteosarcoma/patologíaRESUMEN
La Telangiectasia Macular Eruptiva Perstans (TMEP), forma infrecuente de mastocitosis cutánea consiste en la proliferación anormal de mastocitos en dermis papilar sin participación de otros órganos. Afecta mayormente a adultos, con algunos informes en niños. Típicamente, las lesiones de TMEP son máculas eritematosas con finas telangiectasias, distribuidas principalmente en tronco y extremidades superiores con un patrón simétrico, puede presentar afectación sistémica o asociarse con neoplasias linfoproliferativas. Se presentan dos casos de TMEP en una mujer de 32 años cuyo inicio coincidió con su primera gestación y el de una mujer de 55 años, ambas sin síntomas sistémicos, se discute la presentación clínica, histopatología y tratamiento.
Macular telangiectasia eruptiva perstans (TMEP), an uncommon form of cutaneous mastocytosis, consists in the abnormal proliferation of mast cells in the papillary dermis without the participation of other organs. It affects almost exclusively adults, with some reports in children. Typically, TMEP lesions are erythematous macules with fine telangiectasias, distributed mainly in the trunk and upper limbs with a symmetrical pattern, may present systemic involvement or be associated with lymphoproliferative neoplasms. We present two cases of TMEP in a 32-year-old woman whose onset coincided with her first pregnancy and that of a 55-yearold woman, both without systemic symptoms, whose clinical presentation, histopathology and treatment are discussed.
Asunto(s)
Humanos , Femenino , Adulto , Persona de Mediana Edad , Telangiectasia/diagnóstico , Telangiectasia/patología , Mastocitosis/patología , Mastocitosis Cutánea/diagnóstico , Telangiectasia/tratamiento farmacológico , Mastocitosis Cutánea/tratamiento farmacológico , Antagonistas de los Receptores Histamínicos/uso terapéuticoRESUMEN
La piel marmórea telangiectásica congenita (cutis marmorata telangiectatica congenita, CMTC) es una anomalía vascular congenita rara, a menudo benigna, localizada o generalizada, de etiología desconocida. Se caracteriza por piel marmórea persistente, telangiectasia y flebectasia. Podrían presentarse manifestaciones extracutáneas asociadas con la CMTC en el 18,8-70% de los casos. El diagnóstico de este trastorno se basa en los hallazgos clínicos. El pronóstico es bueno y suele mejorar dentro de los dos años de vida. En este artículo presentamos el caso de un varón recien nacido con CMTC en la piel de todas las extremidades, el tronco y el rostro, y una anomalía asociada, que incluía sindactilia. Presentamos este caso debido a su rareza.
Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.
Asunto(s)
Humanos , Masculino , Recién Nacido , Pronóstico , Telangiectasia/diagnóstico , Recien Nacido Prematuro , Enfermedades Cutáneas Vasculares/diagnóstico , Sindactilia/diagnósticoRESUMEN
No disponible
Asunto(s)
Anciano , Humanos , Masculino , Telangiectasia/diagnóstico , Síndrome de la Vena Cava Superior/complicaciones , Timoma/complicaciones , Diagnóstico Diferencial , Prurito/etiologíaRESUMEN
The authors describe a 50-year-old woman with group 2 juxtafoveolar retinal telangiectasis and macular detachment treated with a single-dose of intravitreous bevacizumab injection. There was an improvement in her visual acuity, with a decrease in retinal thickness showed by the optical coherence tomography and fluorescein leakage in the angiography on follow-up visits. No adverse events were observed as a result of the treatment used. After one year of follow-up, the vision remained stable and macular detachment did not recur.
Os autores descrevem uma paciente do sexo feminino com 50 anos de idade portadora de telangiectasia justafoveolar idiopática tipo 2, associada a descolamento macular e tratada com injeção intravítrea de bevacizumabe, dose única. Houve uma melhora da acuidade visual com diminuição da espessura retiniana documentada por tomografia de coerência óptica e angiografia fluoresceínica durante seu acompanhamento. Não observou-se efeitos adversos em consequência do tratamento. Após um ano de acompanhamento, sua visão permaneceu estável e o descolamento macular não recorreu.