Subject(s)
Xanthomatosis , Humans , Xanthomatosis/diagnosis , Xanthomatosis/pathology , Male , FemaleABSTRACT
Xanthoma typically occurs in the subcutaneous tissues, with rare cases of xanthoma in the joints. However, the case of knee joint osteonecrosis combined with xanthoma is even more uncommon. In this article, we described a 50-year-old female patient who suffered xanthoma in the knee joint on the basis of osteonecrosis of the knee joint. The primary clinical symptoms were knee joint pain and limited mobility. The patient initially received conventional treatment for osteonecrosis. However, there was no significant improvement. Later, we found a synovial xanthoma in the patient's knee. Finally, she underwent arthroscopic excision of the knee joint synovial xanthoma. Following the procedure, her VAS score decreased from 7 to 2, and knee joint mobility increased from 10-103° to 10-140°. Through our follow-up, the patient did not exhibit symptom recurrence. This case is valuable as it provides a feasible therapeutic approach for future clinical applications.
Subject(s)
Arthroscopy , Knee Joint , Osteonecrosis , Xanthomatosis , Humans , Female , Middle Aged , Knee Joint/surgery , Knee Joint/diagnostic imaging , Osteonecrosis/surgery , Osteonecrosis/diagnostic imaging , Osteonecrosis/complications , Osteonecrosis/etiology , Xanthomatosis/surgery , Xanthomatosis/complications , Xanthomatosis/diagnosis , Treatment Outcome , Range of Motion, Articular , Magnetic Resonance ImagingABSTRACT
PURPOSE: Within the large umbrella of histiocytosis are a few similar yet heterogenous entities involving the orbit and periocular tissues with or without systemic infiltration, termed adult onset xanthogranuloma or orbital xanthogranuloma. Due to rarity of these conditions, different classifications in use, diverse clinical presentations and still unknown etiology, the aim of this paper was to provide an up-to-date literature review of the actual understanding of histiocytosis and its subgroups involving the orbit and periocular area, diagnostic strategies and therapeutic modalities. METHODS: We present a review of literature and small case series comprising four patients diagnosed and treated in the period from 2001 until 2023 in our hospital. Clinical files of 4 patients with adult-onset xanthogranulomatous disease of the orbit and ocular adnexa (AOXGD) were reviewed retrospectively. Clinical, laboratory, radiological, histopathological, and immunohistochemical findings were reexamined. RESULTS: Reviewing medical records of our patients with AOXGD, we found significant overlap between histiocytosis and different immune disorders. A broad workup should be considered in these patients as they can harbour severe immune disfunctions and hematologic disorders. Preferred treatment modality depends on a histopathologic type of AOXGD, clinical presentation and systemic involvement and should be conducted multidisciplinary. CONCLUSION: The diagnosis is often delayed because of its rarity and diverse clinical findings. Development of molecular genetic tests, detection of BRAF V600E mutation and different types of kinase mutations, mutations in transcriptional regulatory genes as well as tyrosine kinase receptors have shed a new light on the etiopathogenesis and potential targeted treatment of histiocytosis.
Subject(s)
Orbital Diseases , Adult , Female , Humans , Male , Middle Aged , Granuloma/diagnosis , Histiocytosis/diagnosis , Orbital Diseases/diagnosis , Retrospective Studies , Tomography, X-Ray Computed , Xanthomatosis/diagnosis , AgedABSTRACT
The oral verruciform xanthoma (OVX) is a rare, benign lesion that occurs predominantly in the masticatory region of the oral cavity. The OVX is small, slow growing, and mostly free of clinical symptoms. The exact pathogenesis is unknown, and a viral etiology such as from a human papillomavirus (HPV) infection has not been proven. Although primarily observed in healthy individuals, there have been cases in patients with autoimmune diseases and with chronic graft-versus-host disease (GvHD). The treatment of choice is complete excision of the lesion. This case report showcases a successful surgical removal of an oral verruciform xanthoma on the left buccal mucosa in a 56-year-old patient with GvHD 14 years after allo-genic stem cell transplantation due to a Non-Hodgkin lymphoma.
Subject(s)
Cheek , Graft vs Host Disease , Xanthomatosis , Humans , Middle Aged , Xanthomatosis/diagnosis , Xanthomatosis/surgery , Graft vs Host Disease/diagnosis , Mouth Diseases/diagnosis , Mouth Diseases/surgery , Mouth Diseases/therapy , Male , Mouth Mucosa/pathology , Diagnosis, DifferentialABSTRACT
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.
Subject(s)
Eyelid Diseases , Xanthomatosis , Humans , Xanthomatosis/therapy , Xanthomatosis/diagnosis , Eyelid Diseases/therapy , Eyelid Diseases/diagnosis , Eyelid Diseases/metabolism , Female , Eyelids/pathology , Male , AdultABSTRACT
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.
Subject(s)
Mandibular Diseases , Xanthomatosis , Humans , Male , Adolescent , Xanthomatosis/pathology , Xanthomatosis/diagnosis , Xanthomatosis/surgery , Mandibular Diseases/pathology , Mandibular Diseases/diagnostic imaging , Mandibular Diseases/surgery , Mandibular Diseases/diagnosis , Tomography, X-Ray Computed , Mandible/pathology , Mandible/diagnostic imaging , Mandible/surgery , BiopsyABSTRACT
BACKGROUND The gallbladder develops from the hepatic diverticulum during the fourth week of gestation, which also give rise to the liver, extrahepatic biliary ducts, and ventral part of the pancreas. Infrequently, the gallbladder has malformation or disruption in embryogenesis, leading to congenital anomalies. There are various congenital anomalies that can arise in the gallbladder. True or congenital diverticulum of the gallbladder is a rare entity that accounts for only 0.06% of gallbladder congenital anomalies and 0.0008% of cholecystectomies at the Mayo Clinic. CASE REPORT Herein, we report a rare case of a 38-year-old woman who presented to Jubail General Hospital's surgery clinic with right upper-quadrant (RUQ) pain associated with vomiting after meals for 1 month. Laparoscopic cholecystectomy was done and gallbladder tissue was sent to histopathology. Gross examination revealed an outpouching mucosa within the wall that was proven to consist of muscularis and serosa layers under light microscope. Interestingly, xanthogranulomatous inflammation was confined to the diverticulum, unlike the chronic inflammation involving the remaining gallbladder. Based on the above findings, the diagnosis of congenital diverticulum with xanthogranulomatous cholecystitis was made. CONCLUSIONS Gallbladders associated with a true diverticulum are uncommonly found to be buried in the liver, leading to surgical difficulties during cholecystectomy. Therefore, background knowledge of occasional anomalies plays a crucial role in guiding the surgeon to choose the optimal method of management. We also discuss the associated complications that accompany these anomalies, such as non-specific prolonged ailments, acalculous cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis, and carcinoma of the gallbladder.
Subject(s)
Cholecystitis , Diverticulum , Gallbladder , Xanthomatosis , Humans , Female , Adult , Xanthomatosis/surgery , Xanthomatosis/diagnosis , Cholecystitis/surgery , Cholecystitis/diagnosis , Diverticulum/surgery , Diverticulum/diagnosis , Diverticulum/complications , Gallbladder/abnormalities , Gallbladder/pathology , Granuloma/surgery , Granuloma/diagnosis , Cholecystectomy, LaparoscopicABSTRACT
Sitosterolemia is an autosomal recessive and very rare disease. Its main characteristic is that there is a greater absorption and a decrease in the excretion of sterols, which leads to them being deposited in tissues. It is given by mutations in the ABCG5 or ABCG8 genes found on chromosome 2p21. In this clinical note, we describe the first two patients with familial sitosterolemia described in Colombia, brothers, one of them with xanthomas in extremities as the only symptom, and the other, completely asymptomatic. Genetic studies were performed as a diagnostic test in both patients, where a pathogenic homozygous variant could be identified in the ABCG8 gene in the first case (symptomatic), and a heterozygous variant in the ABCG8 gene in the second case (asymptomatic); the first patient has responded to treatment with ezetimibe. In conclusion, xanthomas should be studied in depth in pediatric age as they may be the only visible sign of such complex and hereditary diseases as familial sitosterolemia, which can be controlled and prevent cardiovascular complications of the disease.
Subject(s)
ATP Binding Cassette Transporter, Subfamily G, Member 8 , Ezetimibe , Hypercholesterolemia , Intestinal Diseases , Lipid Metabolism, Inborn Errors , Phytosterols , Humans , Lipid Metabolism, Inborn Errors/genetics , Lipid Metabolism, Inborn Errors/diagnosis , Male , Colombia , Phytosterols/adverse effects , Phytosterols/genetics , Intestinal Diseases/genetics , Intestinal Diseases/diagnosis , ATP Binding Cassette Transporter, Subfamily G, Member 8/genetics , Hypercholesterolemia/genetics , Hypercholesterolemia/drug therapy , Hypercholesterolemia/diagnosis , Ezetimibe/therapeutic use , Xanthomatosis/genetics , Xanthomatosis/pathology , Xanthomatosis/diagnosis , Anticholesteremic Agents/therapeutic use , Anticholesteremic Agents/administration & dosage , Mutation , ATP Binding Cassette Transporter, Subfamily G, Member 5/genetics , Homozygote , Child , Heterozygote , Lipoproteins/geneticsABSTRACT
A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39⯰C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA. We diagnosed xanthogranulomatous adrenalitis and discussed the differential diagnoses (Langerhans cell histiocytosis, Rosai-Dorfman disease, malakoplakia, Erdheim-Chester disease).
Subject(s)
Adrenal Gland Neoplasms , Xanthomatosis , Humans , Adult , Female , Diagnosis, Differential , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/pathology , Adrenal Gland Neoplasms/surgery , Xanthomatosis/diagnosis , Xanthomatosis/pathology , Xanthomatosis/surgery , Granuloma/diagnosis , Granuloma/pathology , Granuloma/surgery , Adrenal Gland Diseases/diagnosis , Adrenal Gland Diseases/pathology , Erdheim-Chester Disease/diagnosis , Erdheim-Chester Disease/pathology , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/surgeryABSTRACT
BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare. Although 2 distinct conditions, each may be difficult to differentiate on CT imaging when occurring in the facial skeleton. METHODS: We report a case of an incidental finding on craniofacial CT of a frontal bone lesion originally thought to be FD. The finding was in a 55-year-old transgender woman who was assigned male at birth before receiving multiprocedural facial feminization surgery. RESULTS: The clinical features, radiological findings, and treatment are discussed. Postoperatively, the patient had no sequelae secondary to facial feminization surgery or to the orbital lesion biopsy procedure. Bone graft appeared stable on CT imaging, although FD did not appear to resolve completely. CONCLUSIONS: Diagnosis of such lesions is challenging and may require both radiographic and histopathologic assessment. As in the case of this patient, intraosseous xanthomas may also be misdiagnosed as other benign lesions such as FD. In most known cases, surgical intervention leads to complete resolution without recurrence of the lesion.
Subject(s)
Xanthomatosis , Humans , Middle Aged , Female , Xanthomatosis/surgery , Xanthomatosis/diagnosis , Xanthomatosis/pathology , Male , Tomography, X-Ray Computed , Transgender Persons , Incidental Findings , Diagnosis, Differential , Frontal Bone/surgery , Frontal Bone/pathology , Sex Reassignment Surgery/methods , Bone Diseases/surgery , Bone Diseases/pathology , Bone Diseases/diagnosisABSTRACT
Juvenile xanthogranuloma is a benign self-limiting lesion commonly described in infants and young children. It most commonly involves the skin presenting as single or multiple yellowish-brown papules. Clinical scenario with the classic histomorphology showing histiocytic aggregates in the dermis with xanthomatous cytoplasm, toutan type giant cells, immunohistochemistry with positive CD68, CD163, factor XIIIa and negative CD1a and S-100 help in diagnosis. However, diagnosis becomes challenging with predominant systemic bone marrow involvement in post-B-lymphoblastic leukemia settings.
Subject(s)
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Xanthogranuloma, Juvenile , Xanthomatosis , Infant , Child , Humans , Child, Preschool , Bone Marrow/pathology , Skin/pathology , Xanthogranuloma, Juvenile/diagnosis , Xanthogranuloma, Juvenile/pathology , Histiocytes/pathology , Xanthomatosis/diagnosis , Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathologyABSTRACT
INTRODUCTION AND OBJECTIVES: Tendon xanthomas (TX) are lipid deposits highly specific to familial hypercholesterolemia (FH). However, there is significant variability in their presentation among FH patients, primarily due to largely unknown causes. Lipoprotein(a) is a well-established independent risk factor for atherosclerotic cardiovascular disease in the general population as well as in FH. Given the wide variability of lipoprotein(a) among FH individuals and the likelihood that TX may result from a proatherogenic and proinflammatory condition, the objective of this study was to analyze the size of TX in the Achilles tendons of FH participants and the variables associated with their presence, including lipoprotein(a) concentration. METHODS: A cross-sectional study was conducted on 377 participants with a molecular diagnosis of heterozygous FH. Achilles tendon maximum thickness (ATMT) was measured using ultrasonography with standardized equipment and procedures. Demographic variables and lipid profiles were collected. A multivariate linear regression model using a log-Gaussian approach was used to predict TX size. Classical cardiovascular risk factors and lipoprotein(a) were included as explanatory variables. RESULTS: The mean low-density lipoprotein cholesterol level was 277mg/dL without lipid-lowering treatment, and the median ATMT was 5.50mm. We demonstrated that age, sex, low-density lipoprotein cholesterol, and lipoprotein(a) were independently associated with ATMT. However, these 4 variables did not account for most the interindividual variability observed (R2=0.205). CONCLUSIONS: TX, a characteristic hallmark of FH, exhibit heterogeneity in their presentation. Interindividual variability can partially be explained by age, male sex, low-density lipoprotein cholesterol, and lipoprotein(a) but these factors account for only 20% of this heterogeneity.
Subject(s)
Achilles Tendon , Hyperlipoproteinemia Type II , Xanthomatosis , Humans , Xanthomatosis/diagnosis , Xanthomatosis/epidemiology , Xanthomatosis/complications , Xanthomatosis/etiology , Male , Hyperlipoproteinemia Type II/complications , Hyperlipoproteinemia Type II/blood , Hyperlipoproteinemia Type II/diagnosis , Female , Cross-Sectional Studies , Achilles Tendon/diagnostic imaging , Middle Aged , Adult , Risk Factors , Ultrasonography , Lipoprotein(a)/blood , Cholesterol, LDL/bloodABSTRACT
BACKGROUND: Xanthogranulomatous cholecystitis (XGC) is an uncommon variant of chronic cholecystitis which can resemble gallbladder adenocarcinoma (GAC) on preoperative imaging and present technical challenges in the performance of cholecystectomy. We examined our experience with each pathology to identify distinguishing characteristics that may guide patient counseling and surgical management. METHODS: A retrospective review of all pathologically confirmed cases of XGC and GAC following cholecystectomy between 2015 and 2021 at a single institution was performed. Clinical, biochemical, radiographic, and intraoperative features were compared. RESULTS: There were 37 cases of XGC and 20 cases of GAC. Patients with GAC were older (mean 70.3 years vs 58.0, p = 0.01) and exclusively female (100% vs 45.9%, p < 0.0001). There were no significant differences in accompanying symptoms between groups (nausea/vomiting, fevers, or jaundice). The mean maximum white blood cell count was elevated for XGC compared to GAC (16.4 vs 8.6 respectively, p = 0.044); however, there were no differences in the remainder of the biochemical profile, including bilirubin, liver transaminases, CEA, and CA 19-9. The presence of an intraluminal mass (61.1% vs 9.1%, p = 0.0001) and lymphadenopathy (18.8%. vs 0.0%, p = 0.045) were associated with malignancy, whereas gallbladder wall thickening as reported on imaging (87.9% vs 38.9%, p = 0.0008) and gallstones (76.5% vs. 50.0%, p = 0.053) were more often present with XGC. Cases of XGC more often had significant adhesions/inflammation (83.8% vs 55.0%, p = 0.03). CONCLUSION: Clinical features that may favor benign chronic cholecystitis over gallbladder adenocarcinoma include younger age, male gender, current or prior leukocytosis, and the absence of an intraluminal mass or lymphadenopathy. Laparoscopic cholecystectomy is a safe surgical option for equivocal presentations. Intraoperative frozen section or intentional staging of more extensive procedures based upon final histopathology are valuable surgical strategies.
Subject(s)
Adenocarcinoma , Cholecystitis , Gallbladder Neoplasms , Lymphadenopathy , Xanthomatosis , Humans , Male , Female , Gallbladder/surgery , Cholecystitis/diagnosis , Cholecystitis/surgery , Gallbladder Neoplasms/diagnostic imaging , Gallbladder Neoplasms/surgery , Xanthomatosis/diagnosis , Xanthomatosis/surgery , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/surgery , Lymphadenopathy/pathologySubject(s)
Xanthomatosis , Humans , Xanthomatosis/complications , Xanthomatosis/diagnosis , Diagnosis, Differential , PatientsABSTRACT
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the sterol 27-hydroxylase gene (CYP27A1). Due to the deficiency of 27-hydroxylase, the synthesis of bile acids from cholesterol is impaired and excessive cholestanol accumulates in various tissues, such as the central nervous system, tendons, and lenses. Patients with CTX typically manifest intellectual decline, pyramidal tract symptoms, cerebellar symptoms, tendon xanthomas, juvenile cataracts, neonatal jaundice, chronic diarrhea, osteoporosis, and premature cardiovascular disease. Here, we report the atypical case of a 35-year-old female with CTX having massive xanthomas but without a considerable increase in serum cholestanol levels (3.9 µg/mL). In the differential diagnosis of xanthoma, CTX should not be ruled out even if the serum levels of cholestanol are not high, and genetic testing is necessary to make the appropriate diagnosis.
Subject(s)
Xanthomatosis, Cerebrotendinous , Xanthomatosis , Female , Infant, Newborn , Humans , Adult , Xanthomatosis, Cerebrotendinous/complications , Xanthomatosis, Cerebrotendinous/diagnosis , Xanthomatosis, Cerebrotendinous/genetics , Cholestanol , Xanthomatosis/diagnosis , Cholestanetriol 26-Monooxygenase/genetics , MutationABSTRACT
This report describes an unusual and diagnostically challenging case of subcutaneous soft tissue xanthogranulomas of bilateral orbits of a 58-year-old female patient seen in a private oculoplastics practice. Accurate and timely diagnosis is crucial in xanthogranulomatous diseases so that any systemic manifestations can be identified and addressed in a multidisciplinary fashion. Periorbital xanthogranuloma is a frequent early manifestation of adult xanthogranulomatous disease, and its association with life-threatening systemic disease requires accurate diagnosis and prompt work-up. This case describes an otherwise asymptomatic patient who presented with bilateral orbital masses causing visually significant ptosis, initially diagnosed as soft tissue xanthomas, and later identified as xanthogranulomas. It is important for physicians of all fields, from primary care to surgical subspecialty, to be aware that xanthogranulomatous disease may first present as periorbital lesions and/or orbital masses, and that further work-up for vision and life-threatening systemic disease is warranted.