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Background:Dyslipidemia is a growing problem in India, with familial hypercholesterolemia (FH) being an under diagnosed and under treated cause of the same. FH is a common genetic disorder associated with high LDL cholesterol, leading to premature CAD and peripheralvascular diseases. The prevalence of FH is 1 in 250 individuals. True global prevalence of FH is underestimated. The prevalence of FH in Indian population is still unknown. Methods:A total 4000 patients who had tested their lipid profile at Max hospital, between Aug 2017-Aug 2019 were screened. Out of these we found 530 patients with LDL cholesterol ?155 mg/dl. Amongst these, 90 patients consented for clinic visit and examination, and thus enrolled and assessed for FH using the Dutch lipid clinic network (DLCN) criteria. Based on scores, patients were diagnosed as definite, probable, possible, or no FH. Other risk factors known to cause dyslipidemia such as smoking, diabetes mellitus and hypertension were excluded.Results:In a general population of 4000 patients, 4 individuals were detected with definite FH, showing a prevalence of 1 in 1000 (0.1%). Out of the enrolled 90 patients with high LDL cholesterol, 4 (4.44%) were diagnosed as definite, 14 (15.56%) as probable, 33 (36.67%) as possible, and 39 (43.33%) as unlikely FH.Conclusions:Prevalence of FH appears to be much higher among Indians with high LDL cholesterol. Therefore, it should not be ignored in individuals with high LDL cholesterol. To detect patients with FH, routine screening with simple DLCN criteria may be effectively used
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Background: Macrophages are immune cells with diverse profiles and functions. Macrophages play significant roles in the repair and resolution of inflammatory and reactive lesions. They secrete cytokines and modulate the tissue microenvironment and surrounding cellular responses. Objectives: The present article reviews the histological presentation and role of macrophages in the pathogenesis of oral inflammatory and benign lesion. Materials and Methods: Data was collected by electronic search of databases including PubMed and Google Scholar for Mac- rophages, Periapical Granuloma, Mucocele, and Verruciform Xanthoma. Result: Distinct profiles of macrophages participate in regulation of pathogenesis, lesion size, and resolution of periapical lesions. In trauma-associated reactive or benign lesions, macrophages show phagocytosis and exhibit characteristic foamy his- tological appearance. The immunohistochemical profiles of macrophages aid in identifying the surface receptors and profiles of macrophages in oral lesions. Conclusion: Identifying and understanding macrophage-mediated pathogenesis can help diagnose and develop targeted therapies against various oral lesions.
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RESUMEN Los xantomas tendinosos están habitualmente asociados con hiperlipidemia, de ahí que son infrecuentes los xantomas tendinosos normolipémicos. La histopatología de este cuadro es característica por la presencia de células espumosas, hendiduras de colesterol y células de Touton. Presentamos el caso de un paciente varón de 22 años portador de xantomas tendinosos normolipémicos, en coexistencia con glaucoma terminal bilateral y sindactilia donde la histología y la inmunohistoquímica fueron de gran utilidad para el diagnóstico definitivo.
ABSTRACT Tendinous xanthomas are usually associated with hyperlipidemia, normolipemic tendinous xanthomas are uncommon. The histopathology of this condition is characterized by the presence of foam cells, cholesterol clefts, and Touton cells. We present a 22-year-old male patient with normolipemic tendon xanthomas, coexisting with bilateral terminal glaucoma and syndactyly, where histology and immunohistochemistry were very useful to reach the definitive diagnosis.
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Xanthelasma, also known as Xanthoma or lipid island, is an uncommon gastrointestinal tract (GIT) tumor-like lesion and the stomach is its most frequent location in upper GI lesions, specifically in the gastric antrum, as a single lesion. The pathogenesis appears to be related to healing processes in response to tissue damage provoked by inflammation induced by Helicobacter pylori infection. Many studies have reported that successful H. pylori eradication helps prevent gastric cancer (GC) development. We present a case of a 77 years old patient that showed endoscopic diagnosis of erythematous gastropathy, a gastric antrum xanthelasma and H. Pylori infection. After confirmed H. pylori eradication, the lesion had complete regression. The successful eradication of H. pylori probably led to a total regression of the lesion. Gastric xanthelasma (GX) has been shown to be an independent predictive marker for early GC detection after H. pylori eradication. GX could be a useful marker for predicting the development of gastric cancer.
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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.
Subject(s)
Humans , Female , Middle Aged , Achilles Tendon , Xanthomatosis/surgery , Xanthomatosis/diagnosis , Xanthomatosis, Cerebrotendinous/complications , Tendinopathy/surgery , Tendinopathy/diagnosis , Magnetic Resonance Imaging , Xanthomatosis/etiology , Xanthomatosis/diagnostic imaging , Tendinopathy/etiology , Tendinopathy/diagnostic imaging , HyperlipidemiasABSTRACT
Xanthomas are lesions characterised by accumulations oflipid laden macrophages within the dermis. Tuberousxanthomas are large nodular lesions those develop inpatients with underlying hyperlipoproteinemias. A 26-yearold female presented to our hospital with multiple tuberousswellings on the extensor surface of the body since 15 years.We also incidentally detected presence of Nodular thyroidswelling while examining the patient in our lab. Routineinvestigations along with Lipid profile were within normalrange and serum protein electrophoresis showed normalpattern. FNAC from few Tuberous nodules and multiple sitesof thyroid nodule was then performed. Cytosmears in alltuberous nodules showed good number of foamy histiocytesin clusters and discretely admixed with plenty of giant cellsand collections of cholesterol crystals over a dirtyhaemorragic background. Surprisingly FNAC done fromthyroid smears shows good number of epithelioid cellclusters, group of benign follicular cells and other featuressimilar to aspiration of tuberous nodules. Thyroid functionrevealed increased TSH with low normal T3,T4. Histopathology from a single excised nodular lesionshowed attenuated epidermal lining with collection of foamymacrophages in the dermis with plenty of giant cell reactionand cholesterol crystals that confirmed our findings to beTuberous xanthoma. We present a case of normolipemictuberous xanthomas with its association with thyroid disorder(hypothyroidism), which is an uncommon occurrence.
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Diffuse plane xanthoma (DPX) presents with symmetric yellow-orange plaques primarily on the neck, upper trunk, flexural folds, and the periorbital region. Based on serum lipid and lipoprotein levels, these xanthomas are classified as normolipemic or hyperlipoproteinemic DPX. Diffuse normolipemic plane xanthoma (DNPX) is a rare condition that is not well studied yet. It is associated with reticulo-endothelial diseases, particularly multiple myeloma and monoclonal gammopathy of unknown significance (MGUS). A 62-year-old woman developed yellowish hyperpigmented papules and diffuse patches in the medial canthal area of her neck. Based on a skin biopsy and laboratory analyses, she was diagnosed with DNPX associated with multiple myeloma. This diagnosis demonstrates that dermatological lesions should be carefully assessed as they may be the first manifestation of an underlying hematological disease. We report herein a rare case of diffuse plane xanthoma associated with multiple myeloma and review the relevant literature.
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Female , Humans , Middle Aged , Biopsy , Diagnosis , Hematologic Diseases , Lipoproteins , Multiple Myeloma , Neck , Paraproteinemias , Skin , XanthomatosisABSTRACT
Objective @# To explore the etiology, clinical manifestations, diagnosis and treatment of verruciform xanthoma (VX) in adolescents to provide a reference for clinical diagnosis and treatment.@*Methods @#The clinical data of a case of a palatal mass in a juvenile were analyzed, and the related literature was reviewed.@*Results@#The palatal mass was proven to be VX by histopathological examination. Surgical resection was performed, and the prognosis was good. A review of the literature shows that VX is a rare benign mucosal skin lesion of an unknown etiology, with an incidence of approximately 0.025%-0.094%; VX is mostly found in middle-aged people, with no significant difference by sex. The clinical manifestations are similar to those of a variety of diseases, such as squamous papilloma, verruca vulgaris, fibroma, warty carcinoma and squamous cell carcinoma, which are not easy to distinguish and require histopathological diagnosis. The treatment of choice is surgical excision, with a low recurrence rate.@*Conclusion@#In the clinical experience of solitary mucosal masses in juveniles, it is necessary to send biopsy for pathological examination and avoid overtreatment.
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Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. Premature malignant atherogenesis leading to aortic root abnormalities causing supravalvular aortic stenosis is rare. Our case demonstrates the diagnostic imaging findings of the phenotype of patients who have severe elevated LDL with familial hypercolesterolemia.
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Xanthomas are the dermatological manifestations of underlying lipid disorders. The underlying hyperlipidemias may be hereditary or secondary in nature. The familial causes have been well described by Fredrickson into five major categories. The secondary causes of hyperlipidemia range from uncontrolled diabetes mellitus to various dietary factors. We report a case of giant tuberous xanthomas due to secondary hyperlipidemias in an alcoholic patient.
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No abstract available.
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Hyperlipoproteinemia Type IV , Hyperlipoproteinemias , XanthomatosisABSTRACT
Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques, or nodules in skin. They are commonly associated with all types of hyperlipidemia. Xanthoma striatum palmare characterized by xanthomas of the palmar creases is a rare but important diagnostic physical sign of dysbetalipoproteinemia, also known as type III hyperlipoproteinemia. Type III hyperlipoproteinemia is characterized by the early onset of cardiovascular disease and peripheral vascular disease. We describe herein the case of a 51-year-old female patient affected by xanthoma striatum palmare associated with elevated plasma levels of triglycerides and cholesterol and a lipoprotein electrophoresis pattern consistent with type III hyperlipoproteinemia.
Subject(s)
Female , Humans , Middle Aged , Cardiovascular Diseases , Cholesterol , Electrophoresis , Hyperlipidemias , Hyperlipoproteinemia Type III , Lipoproteins , Peripheral Vascular Diseases , Plasma , Skin , Triglycerides , XanthomatosisABSTRACT
El xantoastrocitoma pleomórfico, por su extrema rareza, conlleva alta complejidad en el diagnóstico histopatológico. Se presenta el caso clínico en un sujeto de sexo masculino, de 40 años, con antecedentes de crisis convulsivas de presentación tardía, secundarias a meningioma atípico grado II localizado en región occipital izquierda, resecado por dos ocasiones en el transcurso de 6 años. Recibió radioterapia a dosis completa luego de la segunda resección. El diagnóstico histopatológico inicial fue meningioma atípico gra-do II. El paciente acude al HCAM por cefalea holocraneal intensa y hemiparesia braquiocrural derecha; en los estudios de resonancia magnética nuclear con gadolinio se observó el crecimiento de una lesión occipi-tal izquierda con edema perilesional que ameritó resección total de la lesión a través de la craniectomía previa. Como hallazgo macroscópico, se describe una masa violácea que infiltra duramadre carente de un plano de clivaje; el estudio histopatológico detalla una neoplasia glial hipercelular con infiltración difusa con reacción inmunohistoquímica intensa para PGAF (proteína glial acida fibrilar), S100 y CD56 en células tumorales, CD34 positivo. KI67 positivo en 3% y P53 débilmente positivo, compatible con xantoastroci-toma pleomórfico WHO II.(AU)
The pleomorphic xantoastrocytoma, due to its extreme rarity, carries high complexity in the histo-pathological diagnosis. The clinical case is presented in a male subject, 40 years old, with a history of sei-zures with late presentation, secondary to atypical meningioma grade II located in the left occipital region, resected twice in the course of 6 years. He received full-dose radiation therapy after the second resection. The initial histopathological diagnosis was atypical meningioma grade II. The patient comes to HCAM due to intense holocranial headache and right brachiocrural hemiparesis; In the gadolinium nuclear magnetic resonance studies the growth of a left occipital lesion with perilesional edema that warranted total resec-tion of the lesion through previous craniectomy was observed. As a macroscopic finding, a violaceous mass is described which infiltrates dura mater lacking a plane of cleavage; The histopathological study details a hypercellular glial neoplasia with diffuse infiltration with intense immunohistochemical reaction for PGAF (glial acidic glial protein), S100 and CD56 in tumor cells, CD34 positive. It was KI67 positive in 3% and P53 weakly positive, compatible with pleomorphic xantoastrocytoma WHO II. (AU)
Subject(s)
Humans , Male , Female , Middle Aged , Xanthomatosis , Meningioma , Nutritional and Metabolic Diseases , Astrocytoma , Neoplasms, Germ Cell and Embryonal , Environmental ChemistryABSTRACT
Objective To evaluate the value of ultrasonography in diagnosing tendon xanthoma.Methods The ultrasonographic images of 17 patients with tendon xanthomas confirmed by surgery and pathology were retrospectively analyzed.The ultrasonographic features were summarized.Results The ultrasonographic images showed the location,number,size,shape,boundary,internal echo,involvement and blood supply of tendon xanthomas clearly.Tendon xanthomas showed hypoechoic masses within the tendons,mostly located on the extensor aspect of the hands,feet or bilateral Achilles tendons,symmetric growth,irregular-shaped and inhomogeneous,with loss of the normal fibrillar pattern in longitudinal plane.The abundant blood flow inside the tendon can be detected by color Doppler examination.Conclusions High frequency sonography is the preferred imaging method for diagnosis of tendon xanthomas.
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Objective To investigate the relationship between endoscopic diagnosis and pathological nature of gastric mucosal leukoplakia. Methods Analysis of gastric mucosal leukoplakia patients’ endoscopic features and pathological characteristics of last 3 years. Results Endoscopic diagnosis was made in 116 cases of gastric mucosal leukoplakia. Samples were gray white, round, round shaped or patchy in general observation. Diameter was 0.2 ~1.6 cm, foam cell aggregation appeared in the natural layer of mucous membrane in 88 cases (75.9 %), with varying degrees of inflammatory cells infiltration. The foam cells accumulation were observed in high rate among the gastric mucosal leukoplakia cases. Conclusion Pathological changes of gastric mucosal leukoplakia is gastric xanthoma with chronic inflammation of mucosa.
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PURPOSE: Adult xanthogranulomatous disease of the orbit including adult-onset asthma and periocular xanthogranuloma is rare. To the best of the author's knowledge, adult-onset asthma and periocular xanthogranuloma have not been previously reported in Korea. CASE SUMMARY: A 75-year-old man presented with a 15-year history of progressive bilateral yellowish eyelid mass. He had a history of adult-onset asthma diagnosed 13 years ago. On ocular examination, there were firm yellowish bilateral eyelid masses and ptosis markedly on the right eye. Exophthalmos was noted in the right eye. There were exotropia, hypertropia, and gaze restriction of the right eye. Orbit magnetic resonance imaging demonstrated an ill-defined bilateral infiltrative orbital mass extending to the lid, lacrimal gland, and sinuses. A right orbital mass extended to the posterior orbit. Enlargement of extraocular muscles was also noted in the right eye. Left upper eyelid mass debulking surgery was performed. A combination therapy of azathioprine and prednisolone was started. Mass debulking surgeries of the right upper and lower eyelids were performed. CONCLUSIONS: Adult-onset asthma and periocular xanthogranuloma is known as a refractory disease. Combination therapy with azathioprine and steroid therapy with mass debulking surgery is a good treatment option for adult-onset asthma and periocular xanthogranuloma.
Subject(s)
Adult , Aged , Humans , Asthma , Azathioprine , Exophthalmos , Exotropia , Eyelids , Immunotherapy , Korea , Lacrimal Apparatus , Magnetic Resonance Imaging , Muscles , Orbit , Prednisolone , StrabismusABSTRACT
No abstract available.
Subject(s)
Histiocytosis , Histiocytosis, Non-Langerhans-Cell , Stomach , XanthomatosisABSTRACT
We report the case of a 25-year-old woman presenting with left hip pain. A lesion was found in the proximal femoral metaphysis. Benign bone tumor, such as intraosseous lipoma or liposclerosing myxofibrous tumor, was suspected based on simple radiographs and magnetic resonance images. Curettage of the lesion and bone grafting was performed. Histologic findings reflected primary intraosseous xanthoma of the proximal femur. Laboratory tests revealed the patient to be normolipidemic, while immunoelectrophoretic fractionation of lipoproteins revealed normal values for alpha, pre-beta, beta, and chylomicrons. At the one-year follow-up, there was no evidence of local recurrence. This is the first reported case of primary intraosseous xanthoma of the proximal femur in a normolipidemic patient.