Xantomas tuberosos en un paciente pediátrico: la clave en el diagnóstico precoz de una patología grave y poco frecuente / Tuberous xanthomas in a pediatric patient: a clue to the early diagnosis of a severe and infrequent disease

Los xantomas cutáneos reflejan el depósito de lípidos en la piel y pueden ser la única manifestación temprana de dislipidemias de inicio en la infancia. Las características y distribución de los xantomas orientan a la patología de base; los xantomas tuberosos tienen una fuerte asociación con la hipercolesterolemia homocigota familiar, una patología muy infrecuente. Su detección temprana otorga una ventana terapéutica para prevenir la ateroesclerosis acelerada y la mortalidad. Se presenta el caso de una paciente que comenzó a los dos años con xantomas tuberosos, que fueron la clave diagnóstica para identificar la hipercolesterolemia homocigota familiar subyacente.

Cutaneous xanthomas reflect lipid deposition on the skin and may be the only early manifestation of a childhoodonset dyslipidemia. Characteristics and distribution of the xanthomas signalize the underlying pathology, tuberousxanthomas being strongly associated with homozygous familial hypercholesterolaemia, an extremely rare condition. Its early detection provides a therapeutic window to prevent accelerated atherosclerosis and mortality. We present the case of a patient who started at two years with tuberous xanthomas, which were the diagnostic clue to identify the underlying homozygous familial hypercholesterolaemia.

Xantoma del tendón de aquiles bilateral: debut de xantomatosis cerebrotendinosa / Bilateral achilles tendon xanthoma: cerebrotendinous xanthomatosis debut

OBJETIVO Presentación de un inusual caso de xantomatosis cerebrotendinosa en un paciente de edad cuya primera manifestación fueron xantomas bilaterales del tendón de Aquiles. MATERIAL Y MÉTODOS Mujer de 62 años, que presenta tumoraciones, que presenta tumoraciones sólidas y polilobuladas, en la cara posterior de ambos tendones de Aquiles de 8 años de evolución. El diagnóstico se realizó mediante el hallazgo de hiperlipidemia y estudio genético. Se realió la exóresis quirúrgica parcial de las tumoraciones. RESULTADOS A los 5 años de la cirugía del pie izquierdo y 4 años del pie derecho la paciente estaba asintomática. Presentaba una fuerza para la flexión plantar bilateral de 5/5, pudiendo caminar y subir escaleras sin molestias. Presentaba una escala AOFAS de 85 y 90 puntos en el pie izquierdo y derecho, respectivamente. No hubo recidivas. DISCUSIÓN Los xantomas son depósitos de colesterol en el tejido conectivo de la piel, tendones o fascia, como resultado de una hiperlipoproteinemia. La importancia del caso radica en su sospecha diagnóstica, ya que la xantomatosis cerebrotendinosa suele manifestarse en pacientes de menos de 30 años de edad y en los que se ha recomendado la resección radical de las tumoraciones, e incluso del tendón, debido a las frecuentes recidivas. CONCLUSIÓN En pacientes de mayor edad con lesiones que infiltran el tendón, se puede optar por un tratamiento menos agresivo con un buen resultado clínico.

OBJETIVE Presentation of an unusual case of cerebrotendinous xanthomatosis in an elderly patient whose first manifestation was bilateral Achilles tendon xanthomas. MATERIAL AND METHODS 62-year-old woman presenting solid and polylobed tumors on the posterior aspect of both Achilles tendons for eight years. The diagnosis was made by means of hyperlipidemia and a genetic study. Surgical partial excision of the tumors was performed. RESULTS Five years after surgery on the left foot and four years after the right foot, the patient was asymptomatic. Bilateral plantar flexion force was 5/5, The patient was able to walk and climb stairs without discomfort. AOFAS score was 85 and 90 on the left and right feet, respectively. There were no recurrences. DISCUSSION Xanthomatosis is a genetic alteration with deposits of cholesterol in connective tissue of the skin, tendons or fascia, because of hyperlipoproteinemia. The importance of the present case lies in its diagnostic suspicion, since cerebrotendinous xanthomatosis manifests usually in patients under 30 years of age and in whom radical resection of tumors, and even of the tendon, has been recommended due to frequent recurrences . CONCLUSION In older patients with tumors that infiltrate the tendon, a less aggressive treatment can be chosen with a good clinical result.

Critérios diagnósticos e estratificação de risco na hipercolesterolemia familiar / Criteria diagnosis and risk stratification of familial hypercholesterolemia

A hipercolesterolemia familiar (HF) é uma doença genética relativamente comum caracterizada por níveis elevados de LDL-colesterol (LDL-C) e, por conseguinte, associada a risco de desenvolvimento prematuro de doença cardiovascular aterosclerótica. O tratamento hipolipemiante reduz significativamente o risco cardiovascular desses pacientes, tornando fundamental a identificação precoce desses indivíduos, seguida de tratamento adequado assim que possível. Para tanto, existem escores diagnósticos de HF, como o escore holandês Dutch Lipid Clinic Network, que avalia níveis de LDL-C, antecedente familiar e/ou pessoal de evento cardiovascular isquêmico e a presença de sinais físicos, como xantomas. Uma vez feito o diagnóstico de HF, torna-se muito importante a estratificação de risco desses pacientes. A identificação de fatores de risco associados (como tabagismo,diabetes mellitus, hipertensão arterial, aumento de Lp(a), entre outros) aliada ao uso de métodos para detecção de doença aterosclerótica subclínica em indivíduos com HF pode auxiliar na identificação daqueles que têm maior risco cardiovascular e são candidatos a estratégias mais agressivas de redução de LDL-C. Nesse artigo, revisamos os principais critérios diagnósticos de HF e a estratificação de risco desses pacientes

Familial hypercholesterolemia (FH) is a relatively common genetic disease that is characterized by elevated LDL-cholesterol (LDL-C) levels. As a consequence, it is associated with the risk of premature development of atherosclerotic cardiovascular disease.Lipid-lowering therapies significantly reduces the cardiovascular risk in these patients, making early identification of these individuals essential, followed by adequate treatment as soon as possible. There are diagnostic scores of FH for this purpose, such as the Dutch Lipid Clinic Network score, which evaluates LDL-C levels, family history and/or personal history of ischemic cardiovascular event and the presence of physical signs, such as xanthomas. Once FH has been diagnosed, it is very important to stratify the risk in these patients. The identification of associated risk factors (such as smoking, diabetes mellitus, high blood pressure, elevated Lp(a), among others), together with the use of methods to detect subclinical atherosclerotic disease in individuals with FH, can assist in the identification of those with a higher cardiovascular risk, and who are therefore candidates for more aggressive strategies to reduce LDL-C. This article gives a review of the main diagnostic criteria of FH, and the risk stratification in these patients

Tumor fibromixoma lipoesclerosante óseo: Presentación de un caso y revisión de la literatura / Bone liposclerosing myxofibrous tumor: Case presentation and literature review

El tumor fibromixoma lipoesclerosante óseo (TFMLE) fue descrito inicialmente por Ragsdale en 1986, como una lesión fibroósea polimórfica de hueso con una mezcla de elementos histológicos incluyendo lipoma, fibroxantoma, mixoma, mixofibroma, necrosis grasa, osificación isquémica, áreas de displasia fibrosa y rara vez cartílago o cambios quísticos. La localización más frecuentemente descrita es en la región intertrocantérica del fémur. Es un hallazgo en pacientes asintomáticos o bien estar asociado a fractura. Radiológicamente es una lesión lítica, geográfica, de margen bien definido y habitualmente esclerótico, en algunos casos puede observarse mineralización en el interior de la lesión o un cierto grado de expansión en el contorno. Se ha descrito la estrecha relación del TFMLE con la displasia fibrosa por las características histológicas y la presencia de una mutación Gsα, otra hipótesis de la etiología de la lesión incluye la reacción de la displasia fibrosa a la fatiga por estrés.

The bone liposclerosing myxofibrous tumor (LSMFT) was initially described by Ragsdale in 1986 as a polymorphic fibroosseous bone lesion with a mix of histologic elements that include lipoma, fibroxanthoma, myxoma, myxofibroma, fat necrosis, ischemic ossification, areas of fibrous dysplasia, and infrequent presence of cartilage or cystic changes. The most frequently reported location is the intertrochanteric area of the femur. Radiologically it is a lytic, geographic lesion, with well-defined margins and usually sclerotic. In some cases findings include mineralization inside the lesion or a certain degree of expansion to the contour. The close relationship between LSMFT and fibrous dysplasia has been described based on the histologic characteristics and the presence of the Gsα mutation. Another hypothesis of the etiology of the lesion is the reaction of fibrous dysplasia to stress.

Xanthogranulomatous cholecystitis: A rare radiological diagnosis.

Xanthogranulomatous cholecystitis [XGC] is an unusual focal or diffuse destructive inflammatory process of the gallbladder that may mimic a malignant neoplasm with associated complications. We present a rare case of Xanthogranulomatous cholecystitis with associated complications of liver abscess and enterobiliary fistula that was diagnosed radiologically and confirmed on histopathology.

Differential diagnosis and treatment options for xanthogranulomatous cholecystitis

To describe the differential diagnosis and treatment options for xanthogranulomatous cholecystitis [XGC], the presentations and management of 68 patients were described. Demographical and clinical data from 68 cases of XGC treated between January 2004 and January 2010 were analyzed. Clinical characteristics, radiological and surgical findings, histopathological features and postoperative recoveries were recorded. Clinical features of laparoscopic cholecystectomy versus open surgery and XGC versus gallbladder [GB] cancer were compared. The CA19-9 levels of XGC and coexisting GB cancer were significantly different [p = 0.0034]. In radiological findings, focal thickening of the GB wall was more frequent in coexisting GB cancer, early enhancement of the GB was observed more often in coexisting GB cancer, and lymph node enlargement was seen more often in coexisting GB cancer [p < 0.05]. There were also significant differences between laparoscopic and open surgery for CA19-9, intramural hypoattenuated nodule, pericholecystic invasion, lymph node enlargement and maximum thickness, focal thickening, heterogeneous enhancement and early enhancement of the GB wall [p < 0.05]. These findings were confirmed by multivariate analysis. Ultrasound, computed tomography scan and intraoperative frozen section were the helpful modalities for XGC diagnosis. CA19-9 [>37 kU/l], pericholecystic invasion, lymph node enlargement [>10 mm], and focal thickening and early enhancement of the GB wall were the criteria for open surgery. In some selected cases, laparoscopic cholecystectomy was preferable

Xantomas eruptivos: manifestación cutánea de desórdenes de las lipoproteínas / Eruptive xanthomas: skin manifestation of the lipoprotein disorders

Los xantomas constituyen tumores cutáneos, y se presentan por depósitos de lipoproteínas en los macrófagos tisulares. Clínicamente se manifiestan como lesiones papulosas o nodulares de color amarillento, estando relacionada su distribución con las diferentes formas clínicas de presentación. Aunque no se observan con frecuencia, su presencia puede alertar sobre la existencia de alteraciones en los niveles lipídicos en sangre, y es por lo que se presentó este caso, donde la presencia de los xantomas fue indicador de un incremento de los niveles de colesterol y triglicéridos, lo que pudo constituir un importante factor de riesgo para que la paciente presentara alteraciones en otros sistemas...

Xanthomas are skin tumors, and they present as a cause of lipoprotein deposits in tissue macrophages. Clinically they take the form of yellow papular or nodular lesions, being related its distribution with their different forms of presentation. Though they are not very frequent, their presence can alert about the existence of alterations in the lipid levels in blood. That is why we presented this case, where the presence of xanthomas was an indicator of the cholesterol and triglycerides level increase, what probably was an important risk fact for the patient to present alterations in other systems...

A Case of Perforated Xanthogranulomatous Cholecystitis Presenting as Biloma / 대한소화기학회지

Xanthogranulomatous cholecystitis is an unusual inflammatory disease of the gallbladder characterized by severe proliferative fibrosis and the accumulation of lipid-laden macrophages in areas of destructive inflammation. Its macroscopic appearance may occasionally be confused with gallbladder carcinoma. We present a case of perforated xanthogranulomatous cholecystitis presenting as biloma. An 80-year-old woman was referred to our hospital with a 1-week history of abdominal pain and febrile sensation. Abdominal CT showed a biloma in the subhepatic area. The follow-up CT showed that the biloma increased in size. Therefore, ultrasonography-guided aspiration was performed. The aspirated fluid/serum bilirubin ratio was greater than 5, which was strongly suggestive of bile leakage complicated by perforated cholecystitis. She underwent a laparoscopic cholecystectomy with cyst aspiration and adhesiolysis. A histological diagnosis of perforated xanthogranulomatous cholecystitis was made.

Xantomas eruptivos: A propósito de dos casos familiares / Eruptive xanthomas: Two familial clinical cases

Se presentan dos pacientes de sexo masculino, familiares de primer grado, tabaquistas y etilistas severos, sin antecedentes patológicos conocidos. Ambos presentan en forma eruptiva la aparición de xantomas y uno de ellos una pancreatitis necrohemorrágica atribuida a su hipertrigliceridemia, complicación muy grave de este trastorno. Si bien los xantomas eruptivos no son muy frecuentes de observar, deben hacernos sospechar en una dislipidemia severa, confirmándola con una examen de laboratorio que pondrá de manifiesto una elevación significativa de los triglicéridos y frecuentemente alteración de los niveles de glucosa en sangre. Además, el estudio histopatológico de las lesiones mostrará macrófagos cargados de lípidos, de aspecto espumoso e infiltrado polimorfonuclear y mononuclear en dermis.

We report a case of two male patients, first-grade relatives, who are heavy drinkers and smokers but apparently have no pathological records. Both show eruptive xanthomas and one of them presents acute necrotic and hemorrhagic pancreatitis due to hypertriglyceridemia, a serious complication of this disorder. Despite the fact that eruptive xanthomas are not frequently observed, they should make us suspect an instance of severe dyslipidemia. In order to verify it, a laboratory test will show a dramatic raise of serum triglyceride levels and usual changes in the blood glucose levels. Moreover, a histopathologic study of the lesion will reveal macrophages full of lipids (foam cells) with polymorphonuclear and mononuclear infiltrate.

Lipemia retinalis in a 35-day-old infant with hyperlipoproteinemia: case report / Lipemia retinalis em recém-nascido com 35 dias: relato de caso

A rare case of hyperlipropoteinemia in a 35-day-old infant who presented not only high blood levels of cholesterol and triglycerides but also an ocular manifestation described as lipemia retinalis. The fundoscopic abnormality cleared as the levels of chilomicrons in plasma dropped. Lipemia retinalis is an important and reliable parameter of high levels of chilomicrons and triglycerides and should be considered as a significant clue while diagnosing.

Caso raro de hiperlipoproteinemia em recém-nascido com 35 dias de idade. Identificados altos níveis de colesterol e triglicérides associados a manifestãção ocular descrita como lipemia retinalis. As alterações oculares mostraram melhora uma vez que os níveis séricos foram controlados. Lipemia retinalis é parâmetro confiável e importante a ser considerado como suspeita de alterações de colesterol e triglicérides em crianças e em adultos.

Xanthogranulomatous cystitis: case report and literature review

A cistite xantogranulomatosa (CX) é uma rara doença inflamatória crônica e benigna de etiologia desconhecida. É apresentado um caso de cistite xantogranulomatosa em um paciente masculino de 53 anos. A evolução do paciente incluiu estudos clínicos, radiológicos e histológicos. Não houve recorrência em 32 meses de seguimento após o tratamento. Este caso é provavelmente o 21o a ser relatado no mundo, e o primeiro caso na literaturabrasileira

Xanthogranulomatous cystitis (XC) is a rare benign chronic inflammatory disease of unknown etiology. A case of Xanthogranulomatous cystitis in a 53 year-old male is presented. Patient evolution included clinical, radiological, and histological studies. He had no recurrence of XC 32 months after treatment. The present case is probably the 21st to be reported in the world, and the first case in the Brazilian literature

Isolated giant xanthogranuloma of the orbit.

Xanthogranuloma is an uncommon tumor in the orbit and is usually associated with systemic diseases or blood abnormalities. We report an extremely rare presentation of isolated orbital xanthogranuloma unassociated with any systemic disease, hematological or biochemical abnormalities. A 47-year-old physician presented with proptosis of the left eye of three years duration with yellowish skin plaques. The CT scan revealed a well-defined heterogeneous mass in the medial orbit. There was no evidence of systemic, serum or biochemical abnormalities. The mass was removed by a medial orbitotomy. Histopathology confirmed the diagnosis based on the presence of inflammatory infiltrates, histiocytes and Touton giant cells.

Verruciform xanthoma of the oral mucosa.

Verruciform xanthoma is a rather rare lesion that is mostly confined to the oral mucosa. The clinical picture may vary considerably. The diagnosis is based on the presence of numerous xanthoma cells in the connective tissue papillae. A case of verruciform xanthoma on the gingiva in relation to lower right posterior region in a 43-year-old man is presented. The findings reported in the literature are also discussed.

Colecistitis xantogranulomatosa / Xanthogranulomatous cholecystitis

Se presenta un reporte de cuatro casos de colecistitis xantogranulomatosa, de un total de 1920 biopsias de pacientes colecistectomizados en el servicio de cirugía del Hospital de Quilpué, entre los años 1993 y 2002. Esto constituye un 0,2 por ciento del total de vesículas extirpadas. Tres casos corresponden al sexo masculino, uno al femenino; con una edad promedio de 62 años. El diagnóstico preoperatorio fue de ictericia obstructiva en tres casos y en dos de ellos, el diagnóstico macroscópico intraoperatorio fue de cáncer vesicular. El estudio histopatológico demostró una colecistitis xantogranulomatosa, sin evidencia de malignidad.

Xanthomas: a marker for hyperlipidemias

Xanthomas are deposits of lipids in the skin and sometimes of the subcutaneous tissue that are expressed clinically as yellowish papules and plaques, nodules, and tumors. They are often, but not always, a consequence of hyperlipidemia. In these cases, a meticulous work-up nearly always reveals some disturbance in regards to the metabolism of the lipids-lack of certain lipoproteins, for example. Xanthoma tuberosum and tendinosum occur in persons with familiar hypercholesterolemia, palmar crease xanthoma in familial dysbetalipoproteinemia, plane xanthoma in persons with an underlying lymphoproliferative disorder (or normolipemic), and eruptive xanthoma in those with a genetically-transmitted lipoprotenemia. In sum, each type of xanthoma and any associated abnormality in lipid metabolism can be diagnosed with specificity. Xanthomas are deposits of lipid in the skin or subcutaneous tissue that manifest clinically as yellowish papules, nodules and tumors. They are often associated with hyperlipidemias, although some of them may be normolipemic. Xanthomas result when abnormalities in the transportation of lipids such as cholesterol, triglycerides and phospholipids cause these lipids to be deposited in the skin and being ingested by tissue macrophages. When they are deposited in the walls of arteries, they promote the development of atherosclerosis. Sometimes, by identifying the clinical variant of the xanthoma, the lipoprotein that is deposited and the clinical associations can be predicted. This discussion will focus on those xanthomas associated with hyperlipidemias