Breast Cancer Leptomeningeal Metastases on Spinal Epidural Lipomatosis.

We present a case of breast cancer metastases superimposed on epidural lipomatosis and although none of these findings are considered rare, their coexistence leads to unique image findings, and as far as we know there are no other cases like this in literature.

Single-cell sequencing of facial adipose tissue unveils FKBP5 as a therapeutic target for facial infiltrating lipomatosis.

BACKGROUND: Facial infiltrating lipomatosis is characterized by excessive growth of adipose tissue. Its etiology is associated with somatic phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) variants, but the specific mechanisms are not yet fully understood. METHODS: We collected facial adipose tissue from both FIL patients and non-FIL individuals, isolated the stromal vascular fraction (SVF) and performed single-cell transcriptome sequencing on these samples. RESULTS: We mapped out the cellular landscape within the SVF, with a specific focus on a deeper analysis of fibro-adipogenic precursor cells (FAPs). Our analysis revealed that FAPs from FIL patients (FIL-FAPs) significantly overexpressed FK506 binding protein 51 (FKBP5) compared to FAPs from individuals without FIL. Further experiments indicated that FKBP5 is regulated by the PI3K-AKT signaling pathway. The overactivation of this pathway led to an increase in FKBP5 expression. In vitro experiments demonstrated that FKBP5 promoted adipogenic differentiation of FAPs, a process that could be hindered by FKBP5 knockdown or inhibition. Additionally, in vivo assessments confirmed FKBP5's role in adipogenesis. CONCLUSIONS: These insights into the pathogenesis of FIL underscore FKBP5 as a promising target for developing non-surgical interventions to manage the excessive adipose tissue growth in FIL.

A challenging diagnosis of spinal epidural lipomatosis: A case report and review of the literature.

INTRODUCTION: Spinal Epidural Lipomatosis (SEL) is a rare disorder of pathological overgrowth of the spinal epidural fat in the extradural space. The pathogenesis of SEL usually involves exogenous steroid use or endogenous steroids overproduction. However, idiopathic cases have been reported. Magnetic resonance imaging (MRI) is the gold standard for diagnosis. Both conservative and surgical approaches are employed in management of these patients. CASE PRESENTATION: A 17-year-old male presented to our hospital complaining of progressive lower limb weakness, loss of sensation with urinary incontinence which ended up with paraplegia. He underwent extensive investigations and received multiple inaccurate diagnoses. MRI of the thoracic spine showed spinal epidural lipomatosis with dorsal kyphosis. Hemi-laminectomy for spinal cord decompression and trans-pedicular fixation for correction of kyphosis were performed showing excellent outcomes. CLINICAL DISCUSSION: Diagnosing SEL can be challenging due to its symptom overlap with other neurological conditions. Thus, higher levels of clinical suspicions and utilization of numerous diagnostic modalities including MRI are required. Treatment is largely determined by the clinical presentation and the severity of symptoms. Given the severity of neurological symptoms in our case, surgical intervention was performed resulting in fully regained functionality of previously paralyzed muscles. CONCLUSION: This case highlights the rare presentation and the diagnostic challenges of spinal epidural lipomatosis SEL in a young patient who was misdiagnosed for 9 consecutive months before receiving the correct diagnosis, emphasizing the importance of considering SEL in the differential diagnosis for progressive neurological deficits and the importance of MRI, especially in atypical cases.

A case report of small intestinal volvulus caused by lipomatosis of the small intestine successfully treated with enterectomy.

Small intestinal lipomatosis is a rare condition that presents a diagnostic challenge due to the absence of identifiable clinical symptoms and limitations of small intestine examination methods. Consequently, preoperative diagnosis is difficult and only a limited number of cases have been documented in the scientific literature. Here, we report a rare case of volvulus caused by small intestinal lipomatosis. A 58-year-old female patient was tentatively diagnosed with acute ileus. The whirl sign was detected using abdominal three-dimensional enhanced computed tomography, along with marked local intestinal dilation and multiple irregular fat-like containing lesions. During surgery, abnormal dilation of the small intestine between 80 and 220 cm from the ileocecal valve was detected and the affected intestine displayed a folded and twisted configuration. Examination of the resected intestine showed that the inner wall of the diseased intestinal lumen was covered with more than 100 lipomas of different sizes, the largest of which measured ~8.0 cm in diameter. Based on clinical symptoms alone, it was difficult to identify the cause of intestinal volvulus before surgery. Complete resection of the affected small intestine and subsequent pathological analysis yielded a definitive diagnosis of small intestinal lipomatosis. While small intestinal lipomatosis is a rare condition, prognosis is favorable if diagnosed early and treated appropriately. The application of three-dimensional enhanced computed tomography imaging can aid in accurate diagnosis, while complete resection of the affected small intestine is crucial to improve patient prognosis.

SOLAMEN syndrome with cardiovascular damage.

SOLAMEN syndrome is a rare, recently recognized congenital syndrome that is characterized by progressive and hypertrophic diseases involving multiple systems, including segmental overgrowth, lipomatosis, arteriovenous malformation (AVM) and epidermal nevus. According to literatures, SOLAMEN syndrome is caused by heterozygous PTEN mutation. Phenotypic overlap complicates the clinical identification of diseases associated with PTEN heterozygous mutations, making the diagnosis of SOLAMEN more challenging. In addition, SOLAMEN often presents with segmental tissue overgrowth and vascular malformations, increasing the possibility of misdiagnosis as klipple-trenaunay syndrome or Parks-Weber syndrome. Here, we present a case of a child presenting with macrocephaly, patchy lymphatic malformation on the right chest, marked subcutaneous varicosities and capillaries involving the whole body, overgrowth of the left lower limb, a liner epidermal nevus on the middle of the right lower limb, and a large AVM on the right cranial thoracic entrance. Based on the typical phenotypes, the child was diagnosed as SOLAMEN syndrome. detailed clinical, imaging and genetic diagnoses of SOLAMEN syndrome was rendered. Next-generation sequencing (NGS) data revealed that except for a germline PTEN mutation, a PDGFRB variant was also identified. A subsequent echocardiographic examination detected potential cardiac defects. We suggested that given the progressive nature of AVM and the potential severity of cardiac damage, regular echocardiographic evaluation, imaging follow-up and appropriate interventional therapy for AVM are recommended.

Mass Effect of Large Pelvic Lipoma Resulting in Femoral Hernia.

A 73-year-old lady presented with a three-day history of constipation, vomiting, and abdominal pain. On examination, a right femoral hernia was identified, and this was confirmed on computed tomography imaging with evidence of mechanical small bowel obstruction. There was an incidental finding of a large pelvic lipoma causing a mass effect. This lady underwent open repair of the femoral hernia. Intra-abdominal lipomatosis is a rare finding and can present itself in a variety of manifestations, or it can be identified as an incidental finding on cross-sectional imaging. Bowel obstructions, abdominal pain, lipoma, and abdominopelvic hernias are some examples of symptomatic presentations of intra-abdominal lipomas.

Chiropractic management of lumbar spinal epidural lipomatosis in a U.S. Veterans Affairs clinic: a report of two cases.

Background: Spinal epidural lipomatosis (SEL) is a rare contributor of low back pain (LBP) that can present with or without radicular symptoms. Case Presentation: A 51-year-old and 65-year-old male presented with chronic LBP to the Veterans Affairs chiropractic clinic for a trial of care. One had a moderate degree of lumbar spinal stenosis with known SEL and the other had severe. The patient with moderate grade stenosis responded favorably with weeks of transient benefit after visits and the patient with severe grade did not find benefit with care. Summary: SEL is a condition that conservative care providers should be aware of as a potential cause of central canal stenosis or neuroforaminal narrowing. Chiropractic management of SEL has been scarcely reflected in the published literature, but may be a viable option for transient symptom management.

Lipomatoses.

Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple, encapsulated or not, subcutaneous or sometimes visceral. In some cases, they form large areas of non-encapsulated fat hypertrophy, with a variable degree of fibrosis. They can develop despite the absence of obesity. They may be familial or acquired. At difference with lipodystrophy syndromes, they are not associated with lipoatrophy areas, except in some rare cases such as type 2 familial partial lipodystrophy syndromes (FPLD2). Their metabolic impact is variable in part depending on associated obesity. They may have functional or aesthetic consequences. Lipomatosis may be isolated, be part of a syndrome, or may be visceral. Isolated lipomatoses include multiple symmetrical lipomatosis (Madelung disease or Launois-Bensaude syndrome), familial multiple lipomatosis, the painful Dercum's disease also called Adiposis Dolorosa or Ander syndrome, mesosomatic lipomatosis also called Roch-Leri lipomatosis, familial angiolipomatosis, lipedema and hibernomas. Syndromic lipomatoses include PIK3CA-related disorders, Cowden/PTEN hamartomas-tumor syndrome, some lipodystrophy syndromes, and mitochondrial diseases, especially MERRF, multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson disease, Pai or Haberland syndromes. Finally, visceral lipomatoses have been reported in numerous organs and sites: pancreatic, adrenal, abdominal, epidural, mediastinal, epicardial… The aim of this review is to present the main types of lipomatosis and their physiopathological component, when it is known.

Lipectomia e lipoaspiração seriadas para manejo de síndrome de Madelung: A respeito de um caso / Serial lipectomy and liposuction for management of Madelung syndrome: About a case

A doença de Madelung é caracterizada pelo acúmulo simétrico e difuso de tecido adiposo com crescimento tumoral lento e progressivo. Neste relato de caso, um paciente portador dessa síndrome foi atendido no Hospital das Clínicas, em Recife, PE, com o objetivo de realizar uma redução do conteúdo lipomatoso através de lipectomia. O paciente apresentava volumosas massas de tecido adiposo elástico ao redor do pescoço e região supraclavicular e a proposta terapêutica consistiu em uma cirurgia em dois tempos, com lipoaspiração e lipectomia cervical anterior, seguida de lipoaspiração e lipectomia cervical posterior. Antes da cirurgia, foi solicitado um parecer cardiológico, que indicou um risco intermediário, mas não contraindicou o procedimento. Após 4 dias da cirurgia, o paciente apresentou equimoses e edema periférico na ferida operatória cervical, porém estava assintomático. As técnicas de lipectomia e lipoaspiração são consideradas os métodos de tratamento mais eficazes para a doença de Madelung. No entanto, a escolha da cirurgia deve ser baseada em uma avaliação abrangente da gravidade da doença, localização da massa e expectativas do paciente, uma vez que ambas as técnicas possuem vantagens e desvantagens.

Madelung's disease is characterized by the symmetric and diffuse accumulation of adipose tissue with slow and progressive tumor growth. In this case report, a patient with this syndrome was treated at Hospital das Clínicas, in Recife, PE, to reduce the lipomatous content through a lipectomy. The patient presented large masses of elastic adipose tissue around the neck and supraclavicular region and the therapeutic proposal consisted of a two-stage surgery, with liposuction and anterior cervical lipectomy, followed by liposuction and posterior cervical lipectomy. Before surgery, a cardiological opinion was requested, which indicated an intermediate risk but did not contraindicate the procedure. Four days after surgery, the patient presented bruises and peripheral edema in the cervical surgical wound but was asymptomatic. Lipectomy and liposuction techniques are considered the most effective treatment methods for Madelung disease. However, the choice of surgery should be based on a comprehensive assessment of the severity of the disease, location of the mass, and patient expectations, as both techniques have advantages and disadvantages.

Unilateral biportal endoscopy vs. open decompression for lumbar epidural lipomatosis-cohort study using a prospective registry.

Objective: This study aimed to compare the outcomes of unilateral biportal endoscopy, unilateral laminectomy bilateral decompression (UBE-ULBD), and open lumbar decompression (OLD) in patients with lumbar epidural lipomatosis (LEL). Methods: This prospective observational study was conducted from March 2019 to May 2022 and encompassed 33 patients with LEL who underwent lumbar decompression. The study included 15 cases of UBE-ULBD decompression and 18 cases of open decompression, which were followed up for 1 year. The baseline characteristics, initial clinical manifestations, and surgical details [including estimated blood loss (EBL) and preoperative complications] of all patients were recorded. Radiographic evaluation included the cross-sectional area (CSA) of the thecal sac and paraspinal muscles on MRI. Clinical results were analyzed using the Short Form-36 Score (SF-36), the Numeric Pain Rating Scale (NRS) for lumbar and leg pain, creatine kinase, the Roland and Morris Disability Questionnaire (RMDQ), and the Oswestry Disability Index (ODI). Results: The dural sac CSA increased considerably at the 1-year postoperative follow-up in both groups (p < 0.001). The operative duration in the OLD group (48.2 ± 7.2 min) was shorter than that in the UBE-ULBD group (67.7 ± 6.3 min, p < 0.001). The OLD group (97.2 ± 19.8 mL) was associated with more EBL than the UBE-ULBD group (40.6 ± 13.6 mL, p < 0.001). The duration of hospitalization in the OLD group (5.4 ± 1.3 days) was significantly longer compared with the UBE-ULBD group (3.5 ± 1.2 days, p < 0.01). The SF-36, NRS, RMDQ, and ODI scores improved in both groups postoperatively (p < 0.001). Serum creatine kinase values in the UBE-ULBD group (101.7 ± 15.5) were significantly lower than those in the OLD group (330.8 ± 28.1 U/L) 1 day after surgery (p < 0.001). The degree of paraspinal muscle atrophy in the UBE-ULBD group (4.81 ± 1.94) was significantly lower than that in the OLD group (12.15 ± 6.99) at 1 year (p < 0.001). Conclusion: UBE-ULBD and OLD demonstrated comparable clinical outcomes in treating LEL. However, UBE-ULBD surgery was associated with shorter hospital stays, lower rates of incision infection, lighter paravertebral muscle injury, and lower EBL than OLD surgery. Consequently, UBE-ULBD can be recommended in patients with LEL if conservative treatment fails.

Diffuse Thyroid Lipomatosis and Amyloid Goiter With Incidental Papillary Thyroid Carcinoma: A Rare Case Report.

Lipoid lesions of the thyroid gland are very rare. Fat-containing thyroid lesions include a variety of clinical-pathological disorders, such as adenolipomas, thyrolipomatosis, and lipomatous tissue, in the event of amyloidosis. Herein, we report a case of diffuse thyrolipomatosis with amyloidosis and incidentally detected papillary carcinoma of the thyroid in a 51-year-old female patient who clinically presented with a multinodular goiter. Amyloidosis in papillary carcinoma of the thyroid is very rare and can be primary or secondary amyloidosis. Thyrolipomatosis, amyloid goiter, and papillary carcinoma of the thyroid is a rare combination, and to our knowledge, this is the third reported case in the literature. The association of amyloidosis and the rare occurrence of a differentiated carcinoma have to be considered, as in the case of thyroid lipomatosis.

Two cases of congenital lipomatosis in calves.

Fetal tumours in domestic animals are considered rare. Congenital lipomatous changes have been sporadically reported in fetal, neonatal and young bovids. Their prognosis is often guarded compared with benign lipocytic tumours and depends on their location and degree of infiltration. They can infiltrate the subcutis, deeper musculature and even the skeleton. Four cases of congenital infiltrative lipomatosis have been described in bovine fetuses and young calves. In this report we describe an additional two cases in a neonatal Belgian Blue White calf and a fetal dairy calf. A potential role in bovine abortion needs further investigation. Furthermore, a suggestion is made to adapt the nomenclature from infiltrative lipoma to lipomatosis in order to emphasize the poor prognosis due to the local infiltrative behaviour of these lesions.

Unusual Presentation of Synovial Lipomatosis Mimicking As Septic Arthritis of Knee: A Case Report.

Synovial lipomatosis or lipoma arborescens is a very uncommon pseudo-tumorous lesion of the synovium which more commonly affects the knee joint. The most probable cause of this pathological lesion is degenerative articular disorders of the joint and improper fat accumulation. It is characterized by presence of villous proliferation of the synovium and replacement of the sub-synovial tissue by mature adipocytes which is infiltrated by dense chronic inflammatory cells like lymphocytes, plasma cells and eosinophils. This condition is rarely seen in smaller joints. Its aetiology is still unknown. We report a patient who presented with features of septic arthritis which on intraoperative and histopathological assessment showed features of synovial lipomatosis.

Cor Adiposum as the Cause of Sudden Cardiac Death: A Case Report and Literature Review.

We present a case of sudden cardiac death in a 65-year-old patient who came to the emergency room with shortness of breath. The gross examination of the heart was significant for extensive left ventricular lipomatosis in association with myocardial fibrosis. Microscopic examination revealed extensive fatty replacement of the myocardial tissue throughout the entire thickness of the ventricular wall (transmural lipomatous myocardial remodeling). We suggest using the term "cor adiposum" to categorize this morphological condition when the transmural lipomatous transformation of the myocardium is present. The fatty replacement of the heart muscle would have led to impaired cardiac function, ultimately resulting in sudden cardiac death in this patient. We also hypothesize that the accumulation of fat in the myocardium might be a compensatory process to preserve ventricular wall compliance.

Synovial lipomatosis of the ankle joint: A rare case report.

INTRODUCTION AND IMPORTANCE: Synovial lipomatosis is a rare disease that often results in joint discomfort, swelling, and effusion. Only a few reported cases have been documented so far. CASE PRESENTATION: We reported a 50-year-old woman with synovial lipomatosis of the ankle joint. The patient presented with left ankle pain since the least two years, accompanied by swelling and redness. Physical examination demonstrated swollen ankle with warmth palpation. Magnetic resonance imaging (MRI) demonstrated hyperintensity of the ankle joint on the posterior and anterolateral side, thickening of the synovium, and bone marrow edema around the talar bone, surrounding the sinus tarsi. Histopathological examination demonstrated fatty tissues with nonspecific inflammation, suggesting synovial lipomatosis. We performed synovectomy, and the pain did not recur at 1 year of follow-up. CLINICAL DISCUSSION: Synovial lipomatosis is a highly uncommon benign condition. Histopathologically, synovial lipomatosis is characterized by notable adipocyte infiltration into the subsynovial tissue and a villous or frond-like morphology of the synovium. It also features transversely hyperplastic synovial lining cells. CONCLUSION: Synovial lipomatosis of the ankle joint is a rare entity. Further studies are required to investigate this disease and its management.

Madelung's Disease Evolving to Liposarcoma: An Uncommon Encounter.

(1) Background: Madelung's disease-known also as Benign Symmetric Adenolipomatosis (BSA) or Multiple Symmetric Lipomatosis (MSL), is a rare subcutaneous tissue disease characterized by the proliferation of non-encapsulated fat tissue with mature adipocytes. Patients develop symmetrical fatty deposits of varying sizes, (located particularly around the neck, shoulders, upper and middle back, arms, abdomen, and thighs), having clinical, esthetic, and psychiatric repercussions. (2) Methods: We report a case diagnosed with BSA upon admission to the Neurological and Internal Medicine Departments of the Emergency Clinical Hospital of Galati. (3) Results: This patient developed compressive phenomena and liposarcoma with liver metastasis, followed by death shortly after hospital presentation. The histopathology examination confirmed right latero-cervical liposarcoma and round cell hepatic metastasis. The specific metabolic ethiopathogenic mechanism has not been elucidated, but the adipocytes of BSA are different from normal cells in proliferation, hormonal regulation, and mitochondrial activity; a rare mitochondrial gene mutation, together with other interacting genetic or non-genetic factors, have been considered in recent studies. A thorough literature search identified only three cases reporting malignant tumors in BSA patients. (4) Conclusions: The goal of our paper is to present this rare case in the oncogenic synergism of two tumors. In the management of this BSA disorder, possible malignant transformation should be considered, although only scarce evidence was found supporting this.

Epidural lipomatosis with foci of hemorrhage and acute compression of the spinal cord in a child with CLOVES syndrome: illustrative case.

BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, spinal/skeletal anomalies, and/or scoliosis (CLOVES) syndrome is the most recently described combined vascular anomaly characterized by congenital excessive growth of adipose tissue, vascular malformations, epidermal nevi, and skeletal deformities. This condition exhibits a significant variability in clinical manifestations and a tendency for rapid progression and affects extensive anatomical regions. Information regarding the association of epidural lipomatosis with low-flow venous lymphatic malformations is rare, with few reports in the literature. OBSERVATIONS: The authors present a case of a 6-year-old girl who was admitted to the emergency department complaining of rapidly progressing weakness in her lower extremities and partial loss of sensation in the inguinal area. Radiologically, an extradural mass was identified at the T2-6 level, causing acute spinal cord compression. Urgent decompression and partial resection of the mass were performed. Despite satisfactory intraoperative hemo- and lymphostasis, postoperative lymphorrhea/seroma leakage was encountered as a delayed complication and was managed conservatively. LESSONS: CLOVES syndrome is characterized by the combination of various clinical symptoms, not all of which are included in the abbreviation, as well as a progressively deteriorating course, the emergence of new symptoms, and complications throughout the patient's life. This necessitates ongoing monitoring of such patients.