Prevalence, Anatomical Distribution, and Risk Factors of Adipocytic Tumors and Xanthomas in Psittaciformes: 1096 Cases (1998-2018).

Adipocytic tumors are mesenchymal tumors that are commonly reported in psittacine birds; however, large-scale studies evaluating their prevalence and associated risk factors are lacking. A retrospective study of adipocytic tumors in psittacine birds was performed by reviewing pathology submissions from the University of California, Davis-Drury Reavill Pathology Database, containing 26 013 submissions from psittacine birds (1998-2018). Age, sex, genus, anatomic distribution, and pathological diagnosis were collected for each case when available. The prevalence, risk factors, and association with other lipid-accumulation disorders were reported. A total of 450 cases of lipoma, 129 cases of myelolipoma, 35 cases of hemangiolipoma, 31 cases of liposarcoma, and 451 cases of xanthoma were identified. The prevalence of adipocytic tumors and xanthomas on necropsy was 1.3% (158/11 737, 95% confidence interval [CI]: 1.1-1.6). Adipocytic tumors were identified in 27 genera. Amazona (odds ratio [OR] = 1.93, 95% CI: 1.24-2.99, p = 0.004), Myiopsitta (OR = 2.3, 95% CI: 1.0-5.2, p = 0.041), Melopsittacus (OR = 3.4, 95% CI: 2.1-5.5, p < 0.001), and Agapornis (OR = 3.5, 95% CI: 2.0-6.1, p < 0.001) had significantly higher odds of developing adipocytic tumors compared with other genera, whereas Ara had significantly lower odds (OR = 0.5, 95% CI: 0.3-0.9, p = 0.030). Age was also a significant risk factor for many types of adipocytic tumors. There was no significant association between general adipocytic tumor formation and atherosclerosis or hepatic lipidosis. Xanthomas were associated with atherosclerosis (OR = 1.88, 95% CI: 1.01-3.51, p = 0.048), but not hepatic lipidosis (p = 0.503). On necropsy, the trunk and air sacs were the most common sites of xanthoma formation, whereas the trunk and liver were the most common sites of lipoma and myelolipoma formation, respectively.

Analysis of the characteristics of reflectance confocal microscopy images of xanthogranuloma and xanthoma.

BACKGROUND: Both xanthogranuloma and xanthoma clinically manifest as yellowish skin lesions. Historically, the gold standard for diagnosis was skin histopathological examination. Currently, the advent of reflectance confocal microscopy (RCM) offers additional diagnostic support for these diseases by revealing their microscopic features, thereby enhancing the theoretical foundation for diagnosis. OBJECTIVE: This study aimed to elucidate the distinctive characteristics of RCM images in xanthogranuloma and xanthoma, assess their diagnostic value, and investigate the relationship between RCM and histopathological features, ultimately boosting diagnostic accuracy. METHODS: RCM and histopathological examinations were conducted on 13 patients with xanthogranuloma and 12 with xanthoma, recruited from our Dermatology Clinic between August 2022 and November 2023. The study involved analyzing RCM image features and correlating them with histopathological findings. RESULTS: The RCM images of 13 xanthogranuloma and 12 xanthoma cases showed similar features. Xanthogranuloma predominantly exhibited epidermal atrophy and thinning in 6 cases (46.15%). Additionally, in 69.23% of cases, scattered small mononuclear inflammatory cells were infiltrated in the superficial and middle dermis layers. Medium to high refractive cells, predominantly vacuolated and resembling foam, were observed in 61.54% of cases. All cases demonstrated high refractive cells with distinct target-shaped, disc-shaped, horseshoe-like, and flower-ring structures. Concordance rates with histopathological examinations were 69.23, 92.31, 92.31, and 100%, respectively. Regarding xanthoma, epidermal atrophy and thinning occurred in two cases (16.67%), and mononuclear inflammatory cell infiltration was observed in 25% of cases. High refractive cells with the previously mentioned shapes were present in 100% of cases, though only 16.67% displayed these characteristics exclusively. The concordance rates were 66.67, 91.67, 100, and 91.67%, respectively. CONCLUSION: RCM imaging of xanthogranuloma and xanthoma presents distinctive, highly consistent features with their histopathology, offering valuable insights for clinicians in diagnosing and differentiating these conditions.

Solitary primary intraosseous xanthoma of the mandible in a 15-year-old boy: a case report.

BACKGROUND: A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor. CASE REPORT: A 15-year-old Caucasian male has been presented to our department. He had radiological changes in the area of the left mandibular angle, with an area of diffuse osteolysis of 3.0 cm by 2.0 cm. Computed tomography reveals an area of diffuse osteolysis that starts from the distal root of the lower second molar and reaches the ascending process. A bone biopsy was performed, which revealed a benign proliferative process composed of histiocytic cells involving and infiltrating trabecular bone in a background of loose fibrous connective tissue devoid of any other significant inflammatory infiltrate. The size of the formation was 2.9 cm by 2.0 cm. Immunohistochemical staining for CD68 was strongly positive and negative for S-100 and CD1a. From routine blood tests, cholesterol, triglycerides, and blood sugar are within normal values, which excludes systemic metabolic disease. Subsequent to the surgical intervention, the patient underwent postoperative assessments at intervals of 14, 30, 60 days, and a year later, revealing the absence of any discernible complications during the aforementioned observation periods. CONCLUSION: The diagnosis of primary xanthoma of the mandible is rare and can often be confused with other histiocytic lesions. A differential diagnosis should be made with nonossifying fibroma and Langerhans cell histiocytosis, as in our case. In these cases, immunohistochemistry with CD 68, S-100, and CD1a, as well as blood parameters, are crucial for the diagnosis.

Examining treatment strategies for xanthelasma palpebrarum: a comprehensive literature review of contemporary modalities.

Xanthelasma palpebrarum (XP) is the predominant form of cutaneous xanthoma, as it accounts for greater than 95% of cases. It is characterized by the presence of foam cell clusters containing a large amount of low-density lipoprotein (LDL), which are located in the connective tissue of skin, tendons, and fascia. XP lesions commonly present as distinctive yellow-orange macules, papules, or nodules, and are primarily on the upper eyelids as well as the inner canthus. Women are affected twice as often as men, with lesions typically emerging between the ages of 35 and 55. The pathophysiology of XP involves abnormal lipid metabolism and is often associated with hyperlipidemic states like Type II and IV hyperlipidemia, hypothyroidism, weight gain, and fatty diet. Despite the availability of various treatment methods, current XP management lacks standardization, particularly due to limited comparative research. To address this gap, we conducted an extensive literature review of 45 studies published between 2012 to 2023, which provides an updated overview of current XP treatment modalities. This comprehensive analysis will inform researchers and clinicians on the evolving landscape of XP management.

Eruptive xanthoma as a warning sign of uncontrolled hypertriglyceridemia presenting with acute pancreatitis and uncontrolled type II diabetes mellitus: A case report.

Key Clinical Message: Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying insulin deficiency, the presence of severe hyperlipidemia with eruptive xanthomas warrants additional consideration. Early initiation of lipid-lowering agents can expedite the resolution of cutaneous lesions and substantially mitigate the risk of severe complications such as pancreatitis, along with attenuating long-term cardiovascular risks. Abstract: Xanthomas are the benign lesions which are generated by localized lipid deposits in the skin, tendons, and subcutaneous tissue. They appear clinically as yellowish papules, nodules, or plaques. Acute pancreatitis and eruptive xanthomas can occur as complications of hyperlipidemia. Uncontrolled diabetes mellitus in one of the risk factors for hypertriglyceridemia. Early recognition and treatment of the eruptive xanthomatosis as a warning sign of hypertriglyceridemia can decrease the morbidity and mortality due to acute pancreatitis. Here, we discuss a case of 37-years old female patient with uncontrolled type II diabetes mellitus presented with acute pancreatitis and eruptive xanthomas as result of raised triglycerides and uncontrolled diabetes.

Primary intraosseous xanthoma of the frontal bone in a child: illustrative case.

BACKGROUND: Skull lesions are a common finding in children, with dermoid cysts and eosinophilic granulomas observed most frequently. However, primary intraosseous xanthomas of the calvaria, which are lytic, expansile lesions that develop without underlying hyperlipidemic disease, are rare in children, with only one prior case reported. OBSERVATIONS: The authors describe the case of a healthy 6-year-old male who presented with a 2-month history of an enlarging midline skull mass that developed after a recent minor trauma. Imaging showed a full-thickness, lytic frontal bone lesion with an aggressive appearance and heterogeneous contrast enhancement. The patient underwent gross-total resection of the lesion with placement of a mesh cranioplasty. Histopathology revealed a primary intraosseous xanthoma. The patient was discharged on postoperative day 2 and required no further treatment at the 1-month follow-up. LESSONS: This is the first reported case of a primary intraosseous xanthoma in the frontal bone of a pediatric patient. It emphasizes the need to include primary xanthomas in the differential diagnosis for pediatric skull lesions, particularly when the lesion has an aggressive radiographic appearance or the patient has a history of focal trauma. Furthermore, our findings indicate that resection, together with subsequent monitoring for lesion reccurrence, is an adequate first-line treatment.

A Case of Verruciform Xanthoma of Labia in a Child.

Purpose: Verruciform xanthoma (VX) is a rare, chronic, and benign lesion affecting the skin and mucous membranes. We reported a case of VX in the vulva of a female child. Patients and Methods: A 12-year-old female had vulvar lesions for over 10 years without any discomfort. Physical examination revealed red lobulated patches on the left labia majora with a few scales attached to the surface. Histopathological examination indicated excessive and incomplete keratinization, hypertrophic spinous layer hyperplasia, neutrophil infiltration in the epidermis, and foam-like tissue could be seen in the dermal papilla. Lymphocyte-dominated inflammatory cell infiltration was scattered around the blood vessels. Immunohistochemical results showed positive CD68. Results: The final diagnosis confirmed the presence of VX. Conclusion: Surgical intervention proved successful in achieving favorable outcomes for the patient.

Verruciform xanthoma (VX) is a rare and non-cancerous skin condition that usually appears in the mouth but can occur on the genitals. In this case, a 12-year-old girl had red, warty lesions on her left labia majora for over 10 years. The cause of VX is not well understood but may be linked to inflammation, trauma, or immune disorders rather than lipid metabolism. The girl's condition was confirmed through a biopsy, and she underwent surgical removal with no recurrence after a year. VX in the genital area is known as Vegas xanthomas. Though VX can look like other skin issues, a detailed examination of tissue samples is crucial for an accurate diagnosis. Treatment options include surgery, laser therapy, or topical creams. While VX is generally benign, seeking medical attention is important to rule out other concerns.

Resolution of Extensive Xanthomas Associated With Severe Hypertriglyceridemia via Modified Therapeutic Plasma Exchange.

Severe hypertriglyceridemia can be manifested by xanthomas. Therapeutic plasma exchange (TPE) is an invasive medical procedure that has been documented as a viable approach for severe hypertriglyceridemia when cases would be refractory to conventional therapies. TPE is mainly an optional therapeutic modality for cases of severe acute pancreatitis or preventing the recurrence of pancreatitis. Beyond this clinical application, data are scarce on TPE utilization in managing cutaneous lesions associated with hypertriglyceridemia. We present a case of severe hypertriglyceridemia accompanied by extensive xanthomas of various types and a history of recurrent pancreatitis. After conventional therapy failed, a modified plasmapheresis regimen was used and was able to achieve a fast and marked reduction in the patient's serum triglyceride levels with complete resolution of the extensive cutaneous lesions, providing him a newfound comfort he had not experienced in some time and suggesting the regimen potentially could be considered in the treatment of refractory severe hypertriglyceridemia with debilitating cutaneous complications.

Xanthoma of the Jaw Bones: Cases Series and Review of Literature.

BACKGROUND: Intraosseous xanthomas are rare benign lesions sometimes associated with excess lipid production. Xanthoma of the jaw bones (XJB) was first reported in 1964, and fewer than 50 cases have been reported in the English literature to date. The etiopathogenesis of XJB is highly suggestive of a reactive process or a metabolic condition. METHOD: Seven cases of XJBs were retrieved from the archives of 4 oral and maxillofacial pathology services. Clinical, radiographic and histopathologic features of all these cases were retrospectively analyzed. Immunohistochemical (IHC) stains for S100 and CD68 were performed. RESULTS: All seven cases involved the mandible. Patients' age ranged between 13 and 69 years with an evenly distributed female to male ratio. One patient had a medical history of hyperlipidemia, but the medical and dental histories of the others were unremarkable. For most cases, XJB was an incidental finding discovered during routine radiographic examination. Swelling and cortical expansion were noted in a few cases. Radiographically, cases typically presented as either well-defined multilocular or unilocular lesions, which were either radiolucent or mixed radiolucent/radiopaque. All the lesions were treated with surgical curettage and no recurrence was observed during subsequent follow-ups. Each of the seven cases exhibited sheets of foamy macrophages. The diagnosis is established by exclusion of entities with overlapping microscopic features and involved correlation with the clinical, histological, radiographic and IHC profiles. Immunohistochemically, all the cases expressed diffuse positivity for CD68 and were negative for S100. CONCLUSION: XJB is a rare lesion of unknown etiology, which may mimic other benign or reactive jaw lesions. Due to its rarity and the potential diagnostic challenges it presents, clinicians must remain vigilant and consider CXJ in their differential when assessing radiolucent jaw anomalies.

Bladder xanthoma: clinical analysis of 22 cases from multiple centers.

This study aims to outline the clinical and pathological characteristics of bladder xanthoma, alongside its diagnostic and treatment approaches. METHODS: We reviewed bladder xanthoma literature spanning the last 60 years from databases such as PubMed, Web of Science, Embase, and Medline. Additionally, we analyzed clinical data from a singular case of bladder xanthoma treated at our hospital. Patient particulars, including age, gender, symptoms, tumor size, associated neoplasms, imaging results, and pathological findings, were documented. Tumors underwent surgical removal, followed by pathological examination of the excised tissues. Subsequent to surgery, patients underwent cystoscopy follow-up after 3 months. RESULTS: Among the 22 identified cases of bladder xanthoma, 15 were solitary (comprising both single and multiple lesions), while 7 were associated with urinary tract epithelial tumors. There were 6 male patients and 1 female patient concurrently diagnosed with urinary tract epithelial carcinoma. Males exhibited an average onset age of 56.0 years, with an average tumor diameter of 21.57 mm. Females presented an average onset age of 63.00 years, with an average tumor diameter of 20.86 mm. The onset age for females was notably lower than that for males, and their tumor diameter was significantly smaller than that of males (P<0.05). Among the 9 patients with lipid metabolism disorders, 7 were males and 2 were females, indicating a marked male predominance. No instances of recurrence or malignant transformation were observed during follow-up. In this study, we treated a 65-year-old female patient who, during cystoscopy, exhibited a round, hanging lesion measuring about 2.5 × 1 × 1 cm on the left side of the ureteral opening in the bladder trigone. Post-surgery, pathological examination disclosed bladder xanthoma with multiple groups of foam cells. Immunohistochemistry findings were as follows: CD68 (+), CD163 (+), Vimentin (+), CK (-), Desmin (-). A follow-up cystoscopy after 3 months did not reveal any tumor recurrence. CONCLUSION: Bladder xanthoma is an uncommon benign condition predominantly affecting older males. It frequently manifests on the side walls and trigone region of the bladder and may be linked to lipid metabolism disorders. Approximately 50% of patients exhibit concurrent urinary tract epithelial tumors, with diagnosis primarily reliant on microscopic tissue examination. Prolonged post-surgical follow-up is imperative.

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

Background: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX. Methods: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings. The available clinical details, and investigations, including imaging, electrophysiological, pathological and genetic data, were documented. Results: Five patients (4 males) were recruited in the study. The median age at presentation was 32 years (range: 21-66 years). Walking difficulty was the most common symptom at presentation. All patients had cataracts, tendon xanthomas, eye movement abnormalities, dysarthria, pyramidal signs, ataxia and gait abnormality. Dystonia was noted in three patients. Palatal tremor and parkinsonism were noted in one patient each. In MRI brain, dentate, and corticospinal tract involvement were the most frequent imaging findings. Bilateral hypertrophic olivary degeneration was noted in one patient and hot cross bun sign in two. Three patients underwent genetic testing and all had pathogenic variants confirming the diagnosis. Discussion: CTX is a rare treatable disorder. Apart from the usual neurological presentation with spastic-ataxia, it can present at a later age with parkinsonism. Typical patterns of imaging findings are helpful in early diagnosis which aids in the treatment to prevent the neurological sequelae of the disease.

Successful treatment of xanthoma disseminatum with pulsed dye laser: A case report.

Xanthoma disseminatum is a rare form of non-Langerhans cell histiocytosis with limited treatment options due to its unknown aetiology and diffuse skin lesions. This case report presents the successful treatment of a 31-year-old male with severe pan-facial xanthoma disseminatum lesions following a facial burn and traumatic brain injury resulting from a car accident. After 5 sessions of monthly pulsed dye laser treatment, there was a clinically significant reduction in the lesions. Over the course of 3 years, the patient underwent a series of monthly pulsed dye laser treatments, and the lesions were almost cleared. These findings suggest that pulsed dye laser therapy may offer an effective treatment option for managing xanthoma disseminatum. This is the first report on use of the pulsed dye laser for treatment of xanthoma disseminatum.

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.

Tendinous xanthomas are usually a sign of genetic dyslipidemias and are said to be pathognomonic for familial hypercholesterolemia. However, the differential diagnosis must also include rarer forms of genetic dyslipidemias such as cerebrotendinous xanthomatosis (CTX). In this report, we present the diagnostic odyssey of a French-Canadian patient presenting with Achilles tendon xanthomas and an unusual mild to moderate hypercholesterolemia. Comprehensive biochemical and genetic investigations confirmed the diagnosis of CTX, 20 years after the onset of her first symptoms. We also describe a new variant in the CYP27A1 gene associated with this atypical case and expand the clinical phenotype of this rare genetic condition. CTX is thought to be underdiagnosed, and early diagnosis and treatment of this disease is essential as it has been shown to greatly improve the patient's symptoms and prognosis.

Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.

PURPOSE/AIM OF THE STUDY: Cerebrotendinous xanthomatosis is a disease with important clinical and molecular heterogeneity. CYP27A1 gene was described as the cause of these defects, with more than 50 mutations involved in the disease. The objective of this study was to carry out a genetic study and a clinical description of a patient with unusual clinical manifestation of the disease. MATERIALS AND METHODS: DNA sequencing was used for the evaluation of CYP27A1 exon sequences and their intron/exon boundaries. Copy number variants were calculated using a method based on depth of sequencing coverage. In addition, the potential effects of the missense variants were analyzed, and an in-silico protein modeling tool was used. Finally, a patient case description was performed in order to evaluate patient phenotype according to genetic results. RESULTS: Patient clinical features indicate the possible presence of a disease milder phenotype. When analyzing the CYP27A1 gene, patient presents a pathogenic variant (p.Arg474Trp) and a variant of unknown significance (p.Met130Ile) that causes a slight modification of the protein functional structure. This variant in homozygosis or double or compound heterozygosis together with other biallelic pathological mutations may be the cause of the clinical phenotype observed in the reported patient. CONCLUSIONS: Clinical manifestations of cerebrotendinous xanthomatosis are heterogeneous, and sometimes wrongly suggest the presence of other diseases. Some patients seem to present an "incomplete" phenotype, which could be redefined as a variant of the disease with further studies. The evaluation of new mutations allows for earlier diagnosis and greater effectiveness in its treatment.

Management of Asymptomatic Severe Hypertriglyceridemia With Oral Therapy Only: A Case Study Shedding Light on Treatment Approaches and Potential Complications.

We present a rare case of a 52-year-old male with asymptomatic severe hypertriglyceridemia exceeding 11,000 mg/dL, managed initially with oral therapy without the need for an insulin drip or plasmapheresis. However, due to non-compliance at home, the patient subsequently developed pancreatitis requiring treatment with an insulin drip. He was discharged on a regimen of fenofibrate, rosuvastatin, and omega-3, with no further episodes of symptoms. Asymptomatic patients with severe hypertriglyceridemia and a low risk of developing symptoms can be safely managed through close monitoring, statin, fibrate therapy, and lifestyle modifications, but the risk of acute pancreatitis persists with elevated triglyceride levels of over 500 mg/dL and a marked increase in risk with a triglyceride level of greater than 880 mg/dL.