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Congenital infiltrating lipomatosis of the face (CILF) is a rare congenital disease of the head and neck region. In this study, the cases of 20 patients diagnosed with CILF were reviewed retrospectively to analyse the characteristics of the disease. The symptoms, signs, and clinical progression were investigated. Radiological changes were analysed according to the distribution of the trigeminal nerve. The pathological features of the fatty facial lesions, jaw hyperplasia, and lingual lesions were further identified. All 20 patients demonstrated hemifacial hypertrophy at birth. None had a family history of the disease. Significant radiological features of CILF (prevalence ≥90%) included thickened buccal subcutaneous fat, palatal submucosal fat, and temporal subcutaneous fat, maxillary tuberosity heteroplasia, and fatty infiltration of the masseteric intermuscular space. With regard to the trigeminal nerve, the frontal branch region (CNV1) was rarely affected, while the maxillary (CNV2) and mandibular (CNV3) branch regions showed considerable changes. Pathologically, CILF was observed to be characterized by the infiltration of mature adipose tissue into the adjacent buccal soft tissue, osteal remodelling surrounded by sheets of mature lipocytes and supporting fibrovascular stroma, and lingual hamartoma. In summary, CILF exhibits distinct characteristics that are related to the regions controlled by the maxillary and mandibular branches of the trigeminal nerve, suggesting that CILF may be associated with early neural development. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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 threedimensional enhanced computed tomography imaging can aid in accurate diagnosis, while complete resection of the affected small intestine is crucial to improve patient prognosis. [ABSTRACT FROM AUTHOR]

Macrodystrophia lipomatosa (MDL) is a rare congenital, nonhereditary anomaly characterized by overgrowth of all the mesenchymal elements, predominantly the fibroadipose tissue in a sclerotomal distribution commonly involving the median nerve territory in the upper extremity and plantar nerve territory in the lower extremity. It can be either static or progressive, with the former being the more common. MDL is usually present since birth and the affected digit/region increases in length and girth, and growth ceases after puberty. We discuss a rare case of ulnar nerve territory involvement that progressed to grow even after puberty. [ABSTRACT FROM AUTHOR]

Abstract 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.

A rare disorder called congenital infiltrating lipomatosis of the face is characterized by a diffuse fatty infiltration of the soft tissues of the face. Muscle involvement and related bony hyperplasia may coexist. This particular form of lipomatous tumor is rare and typically appears in childhood. It is congenital in nature. Collections of mature, nonencapsulated lipocytes that infiltrate local tissues and frequently recur following surgery define congenital infiltrating lipomatosis, a unique clinicopathologic condition. The best modalities are, CT scan and MRI since they can determine the extent of the lesions and reveal their fat content. The treatment of this disease is surgical as soon as possible to restrict their infiltrative growth and improve the appearance of the face. We describe a case of massive facial invading lipoma that was investigated using MRI.

Synovial lipomatosis is a controversial entity of uncommon intraarticular joint lesions. Most studies focused on radiological findings and surgical resection modalities. Pathologic findings were limited to case reports. Detailed descriptions of the histopathologic features are lacking. We aim to highlight the salient histopathologic features of synovial lipomatosis. We performed a retrospective review study over 15 years retrieving cases of synovial lipomatosis. We found 5 patients (age range: 8-78, average age: 50 years, male to female ratio: 4:1) demonstrating unilateral synovial lipomatosis out of 241 (2.0%) patients with knee joint lesions. Four patients had osteoarthritis. One patient was obese. The resected specimens showed synovial hyperplasia, surface fibrin, hemosiderin pigment, microcalcifications, lymphoplasmacytic infiltrates, lymphoid aggregates, stromal fibrotic, degenerative, and metaplastic alterations shared by other synovitis related changes. Consistent features included abundant adipocytic components, surface adipocytes, prominent large vessel vasculatures, plasma cells, and dense perivascular lymphocytic cuff-like infiltrates. One patient demonstrated superimposed sarcoid-type epithelioid granulomas. A distinct fibrous band separated the lesional tissue from the underlying normal fatty tissue. Synovial lipomatosis predominates in older males with degenerative joint conditions with a second peak in children and adolescents. Obesity is not a risk factor. Some histopathologic features help distinguish synovial lipomatosis from look-alike joint lesions. The findings may suggest an angiolipomatous hamartomatous growth or an exaggerated synovial reaction inducing florid subsynovial stromal proliferative, metaplastic, and degenerative changes. Regardless of its etiopathogenesis, pathologists have a role in confirming the diagnosis and ensuring a complete arthroscopic synovectomy by assessing the presence of the fibrous septa. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Benign symmetric lipomatosis (BSL), also known as Madelung's disease, is a rare disease generally characterized by fat deposits painlessly and symmetrically distributed in the body. In former studies, the incidence of BSL is highest in male patients and more frequent in the Mediterranean area. Asian females seem to be rarely affected. BSL often occurs in the neck or upper-back of patients, and is related to various metabolic disorders. Unusual clinical appearances may add difficulties in diagnosis. Case Report: In this report, we present a case of BSL in a 33-year-old woman's perineal region, with no clear BSL risk factors (sex, medical history, sites, and comorbidities), which increased the difficulties in diagnosis. The patient's quality of life was seriously affected by the continuous growth of fat tissue. Based on MRI and B-ultrasonic examinations, she underwent excision at our outpatient facility. Combined with the patient's clinical appearance, imaging results, and pathological tests, we could finally determine the diagnosis of BSL. After 18 months of follow-up, this patient recovered well with no recurrence. Conclusions: Difficulties in diagnosis can seriously affect doctors' treatment approaches. BSL rarely occurs in the lower body, and our patient showed no clear risk factors. Therefore, imaging and pathological examinations can be essential tools for dermatological and plastic surgeons to diagnose and treat rare BSL. [ABSTRACT FROM AUTHOR]

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-yearold 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. [ABSTRACT FROM AUTHOR]

Introduction: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes. Case series: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions. Discussion: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement. Conclusion: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities. [ABSTRACT FROM AUTHOR]

Salivary duct carcinoma (SDC) is a rare and highly aggressive malignant salivary gland neoplasm, accounting for only 0.2% of salivary gland tumours. It predominantly affects the parotid gland and represents a significant concern with limited prevalence (1-1.2 individuals per million). We present a case of a 65-year-old female patient with a clinical history of swelling and pain in the right lower jaw region for six months. Diagnostic investigations revealed a well-defined submandibular gland lesion. Subsequent histopathological and immunohistochemical findings confirmed the lesion to be SDC. This case report emphasises the challenges in diagnosing this aggressive malignancy, which stems from its rarity and resemblance to other neoplasms. It is worth noting that the involvement of the submandibular gland is observed in a mere 12% of SDC cases, while females account for only 25% of the reported instances. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Diffuse intestinal lipomatosis is a rare condition that infiltrates mature fatty tissue into the intestinal submucosa and subserosa of the small or large intestine and can present with intestinal obstruction or torsion. This report is of the case of a 58-year-old woman who had acute torsion of the small bowel due to diffuse small intestinal lipomatosis. Case Report: A 58-year-old woman, who was otherwise in good health, arrived at our Emergency Department experiencing sudden, intense pain in the lower abdomen. She also reported abdominal swelling, feelings of nausea, vomiting, and reduced ability to defecate for at least 2 days. The next morning, contrast-enhanced abdominal computed tomography (CT) scan was performed, showing diffuse thickening of the small intestinal wall with hypodensity, fatty density, lumen narrowing, and wall thinning. The small intestine demonstrated a whirlpool-like distribution in the lower right abdomen and localized thickening of the small intestinal wall, suggesting acute intestinal torsion. An hour later, an emergency operation was performed to remove part of the small intestine. Three days later, pathological results showed a thin intestinal wall, expansion of the mucosal layer and submucosa, and hyperplasia of adipose tissue. Conclusions: This report presents a rare case of torsion and small bowel obstruction caused by diffuse intestinal lipomatosis and focuses on the abdominal enhanced CT scan, which showed diffuse thickening of the small intestine, with multiple areas of fat density and torsion of the small intestine in the right lower abdomen. Histopathology is also presented, with the result showing intestinal lipomatosis. [ABSTRACT FROM AUTHOR]

Diffuse thyroid lipomatosis (DTL) is a rare entity of unknown etiology that can be associated with amyloidosis and rarely, thyrotoxicosis. Here, we present a case of DTL with amyloid deposits and concurrent thyrotoxicosis. A 64-year-old South-Asian woman with a several-year history of an enlarging goiter, unintentional weight loss, and work-up 10 months prior suggestive of thyroiditis presented with a viral syndrome in setting of several weeks of progressive fatigue. Her examination was notable for resting sinus tachycardia and massive painless goiter. Initial work-up revealed nephrotic range proteinuria with hypoalbuminemia, which progressed to end-stage-renal disease, elevated inflammatory markers, and elevated free thyroxine (FT4) with a suppressed thyrotropin. Hemodialysis was initiated. Further testing revealed a negative antithyroid antibody panel, an enlarged fatty thyroid per thyroid ultrasound and neck computed tomography, and normal 24-hour uptake on radioactive iodine uptake scan. Both renal and thyroid core biopsies showed amyloid deposits, with the latter confirming benign adipose tissue with entrapped thyroid follicles. Given her rising FT4 levels and persistent tachycardia, methimazole and atenolol were initiated. FT4 levels nearly normalized after uptitration of methimazole and dosing after dialysis. Although the etiopathogenesis and natural history of DTL remain unclear, we discuss the possible mechanisms of thyrotoxicosis in our patient. [ABSTRACT FROM AUTHOR]

A 2‐year‐old neutered male bullmastiff dog was presented with chronic left hind limb lameness. Physical examination revealed left stifle effusion and medial buttress without cranial tibial thrust. Radiographs showed joint effusion and new bone formation at the patella apex. Magnetic resonance imaging showed increased synovial fluid, widening of the joint space, abnormal infrapatellar fat body and thinning of the cranial cruciate ligament. Synoviocentesis and cytologic evaluation of synovial fluid revealed marked mononuclear inflammation with abundant fatty tissue, suggesting synovial lipomatosis in conjunction with the imaging findings. The disease was confirmed histologically after sampling the lesion during arthrotomy. Synovial lipomatosis, characterized by extensive synovial adipose tissue proliferation of the synovial membrane, is a rare "tumor‐like" disorder that usually affects the stifle. Although the etiology remains unclear, joint trauma, inflammation, instability, and lipid abnormalities have been proposed as causes. Inflammatory factors may promote synoviocyte and adipocyte hyperplasia that perpetuate the process. Surgical removal may be suggested to eliminate triggers and prevent future recurrences. The report provides the first cytological description of adipocytes in synovial fluid associated with the diagnosis of synovial lipomatosis in dogs. This case report underscores the potential effectiveness of cytologic analysis of synovial fluid smears, in combination with magnetic resonance imaging (MRI), for diagnosing this condition and reducing complications associated with arthrotomy for sampling purposes. Additionally, the case highlights that synovial lipomatosis should be considered as a potential differential diagnosis for synovial masses in dogs. Further cases are needed to validate these observations in veterinary medicine. [ABSTRACT FROM AUTHOR]

Background: Facial infiltrating lipomatosis (FIL) is a rare condition characterized by congenital facial enlargement. Beyond its impact on physical appearance, FIL can also impair essential facial functions such as swallowing, chewing, vision, and breathing, imposing a substantial physiological and psychological burden. Currently, fewer than 80 cases of FIL have been reported, and the characteristics and management strategies for FIL remain unclear. Methods: We reviewed the clinical, surgical, and radiological records of 39 FIL patients who were treated at our center. Of these, genetic testing was performed for 21 patients. Results: Aberrant overgrowth involves subcutaneous fat, bones, muscles, glands, tongue, lips, and teeth. Epidermal nevi could be observed in the dermatomes innervated by the three branches of the trigeminal nerve, with the highest frequency seen in the dermatome of the mandibular branch. Four patients exhibited concurrent hemimegalencephaly (HMEG), with one case presenting HMEG on the opposite side of the FIL. Nineteen patients were confirmed to harbor the PIK3CA mutation. Thirty-three patients underwent surgical procedures, with a post resection recurrence rate of approximately 25%. Conclusions: A variety of maxillofacial structures may be involved in FIL. PIK3CA mutations are important pathogenic factors. Emerging targeted therapies could present an additional treatment avenue in the future. However, surgery currently remains the predominant treatment choice for FIL. The timing and modality of surgery should be individually customized, taking into account each patient's unique circumstances. Notably, there is a significant possibility of postoperative recurrence during childhood and adolescence, necessitating early strategic planning of disease management. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Lipid hemihypertrophy should be considered in the differential diagnosis of neonatal asymmetry. Early recognition and further evaluation for associated disorders are important for appropriate management and surveillance of potential complications. We present the case of a 5‐day‐old female neonate who presented with a visibly enlarged right thigh, right labia majora, and below the right mandible. This case report highlights the importance of early identification, comprehensive evaluation, and multidisciplinary management in neonates with lipid hemihypertrophy to optimize their long‐term outcomes and quality of life. [ABSTRACT FROM AUTHOR]

Congenital infiltrating lipomatosis of the face is a rare and benign condition involving a hamartomatous proliferation of mature adipose cells. The final diagnosis derives from a combination of clinical data, histology, and imaging features and affects the treatment decision. This report describes the clinical case of a young patient suffering from facial lipomatosis with particular emphasis on radiological findings detected at CT-scan and magnetic resonance imaging. [ABSTRACT FROM AUTHOR]

Introduction: Madelung's disease is a rare condition characterised by the symmetric growth of fatty tumours (lipomas) around the neck, shoulders, upper arms and trunk. Case report: We present a description of a male patient with extensive adipose tissue overgrowth around the neck. Once the possibility of malignancy was excluded, the patient's history and clinical and radiological findings led to the diagnosis of Madelung's disease. A two-stage surgery was planned and the patient underwent lipectomy of the lipomas around the neck. Conclusions: This article analyses the clinical data with Madelung's disease; discusses its aetiology, clinical manifestations, diagnosis and treatment methods; and provides help with clinical diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder caused by somatic FGFR1 and KRAS variants. It shares significant phenotypic overlap with several closely related disorders caused by mutations in the RAS‐MAPK pathway (mosaic RASopathies). We report a diagnostically challenging case of ECCL in which next‐generation sequencing of affected tissue identified a pathologic FGFR1 p.K656E variant, thereby establishing a molecular diagnosis. Patients with FGFR1‐associated ECCL carry a risk of developing malignant brain tumors; thus, genetic testing of patients with suspected ECCL has important management implications. [ABSTRACT FROM AUTHOR]

Background: Acute appendicitis (AA) is the most common surgical emergency in patients who visit the emergency department with abdominal pain. In some of the patients who were operated with a prediagnosis of AA, lymphoid hyperplasia, fecalitis, enterobius vermicularis, carcinoid tumor, or adenoma are determined without transmural inflammation in microscopic examination. 'Submucosal lipomatosis' is also another entity that has been rarely reported in appendix localization. In this study, we aimed to determine the frequency and severity of submucosal fatty tissue (SFT) in appendectomy specimens and identify risk factors. Materials and Methods: 293 appendectomy specimens were evaluated retrospectively. The amounts of SFT (A0: None, A1: Isolated adipocytes (Mild), A2: Small adipocyte groups (Moderate), A3: Prominent adipocyte groups (Marked), A4: Severe adipocyte groups that narrow the lumen (Severe)) and the groups that were created according to the amounts of SFT (Group 1: Cases with A1,2,3,4, group 2: Cases with A2,3,4, group 3: Cases with A3,4) were determined in hematoxylin-eosin sections. Results: 91.47% of the cases had different amounts of SFT. Amounts of SFT were mild in 23.89%, moderate in 46.76%, marked in 18.09%, and severe in 2.73%. All of the cases without SFT were in pediatric age. It was observed that the a mount of SFT increased with i ncreasing age (p<0.05). As 68% of the cases without SFT were female, male predominance was observed in cases with SFT. There was a correlation between male gender and increase in the amount of SFT (p<0.05). AA wasn't determined in 26,28% of the cases. The AA rate in the group without SFT (20%) was marked lower than group 1 (78,73%), group 2 (82,32%), and group 3 (83,87%) (p<0.05). The most prominent increase in AA rate was between the group without SFT and group 1 which was the most sensitive group to the amount of SFT. When group 1,2,3 were compared, no significant increase in the AA ratio was found. Conclusions: The presence of SFT in the appendix is a common condition. Age increase and male gender are risk factors for the accumulation of SFT. Because of SFT accumulation increases the risk of AA, it would be logical to classify it as mild/moderate/marked/severe, and accept it as 'Submucosal lipomatosis'. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of our study was to provide a novel schematized and comprehensive classification of causes and severity grading system for lumbosacral stenosis. Materials and methods: The MRI system proposed consisted of a severity grading scale for central and lateral (recess and foramen) stenosis, together with a schematized indication of the main causes of the disease (disc, arthritis, epidural lipomatosis, and their combinations). The system was applied to a cohort of patients from a single Institution in the last 2-years. Two radiologists evaluated all the MRIs to determine intra- and inter-observer reliability according to Cohen Kappa (Kc, for non-ordered categorical variables) and weighted Kappa (Kw, for ordered variables). Two orthopaedic surgeons clinically evaluated all patients and provided a schematic grading system with a central and lateral stenosis clinical score (CS-CS and LS-CS). Associations between ordinals were tested with chi-square test and measured with the Goodman and Kruskal's gamma index (Gi, with 95% confidence interval [95% CI]). Lastly, the most used previous MRI systems were applied, and their performances were compared to the new system proposed. Results: One hundred and twelve patients were included (55 females—mean age 63.3 ± 10.7 years). An almost perfect intra-observer agreement for the assessment of central stenosis, foramen stenosis, and lateral recess stenosis was found (Kw = 0.929, 0.928, and 0.924, respectively). The inter-observer agreement was almost perfect for central stenosis and foramen stenosis and substantial for lateral recess stenosis (Kw = 0.863, 0.834, and 0.633, respectively). Whatever the aetiologies involved in central and lateral stenosis, the intra-observer agreement was perfect (all Kc = 1), whereas the inter-observer agreements were almost perfect for arthritis (Kc = 0.838) and lipomatosis (Kc = 0.955) and substantial for disc (Kc = 0.691) regarding central stenosis. The inter-observer agreement for the causes of lateral stenosis was lower and variable, ranging from perfect (lipomatosis) to fair (disc, Kc = 0.224). The grading system revealed a strong association with CS-CS for both readers, with GI = 0.671 (95% CI 0.535–0.807) and 0.603 (95% CI = 0.457–0.749), respectively. The association with MRI grading and LS-CS was moderate for foraminal stenosis and for the concomitant presence of foraminal and lateral recess stenosis, with Gi = 0.337 (95% CI 0.121–0.554) and Gi = 0.299 (95% CI 0.098–0.500), respectively. A weak association was found between lateral recess grading alone and LS-CS with Gi = 0.102 (95% CI 0.193–0.397). The new grading systems showed higher Gi for associations with clinical symptoms, compared with previous ones, both for CS-CS and LS-CS. Conclusions: A standardized visual grading system for lumbar spinal stenosis that takes into account all of the major contributing factors—including disc, arthritis, and lipomatosis, for the central canal, lateral recess, and neural foramina could be a useful and practical tool for defining the stenosis, lowering inter-observer variability, and directing the various treatment options. [ABSTRACT FROM AUTHOR]

A middle-aged male with end-stage renal disease underwent cadaveric transplantation. Intraoperatively, a large mass was seen in the pelvis surrounding the vessels, native ureter, and bladder. Ultrasound showed echogenic fatty tissue in the pelvis suggestive of pelvic lipomatosis vessels were dissected, layers were separated with a lot of difficulty. The urinary bladder could not be defined. Hence, ureteroureterostomy was done and a DJ stent was placed. The patient had immediate graft function and attained a nadir creatinine of 0.6 mg/dl on postoperative day 6.

Hemifacial hyperplasia (HFH) is a rare congenital disorder characterized by marked unilateral overgrowth of the facial tissues. A subtype of HFH is congenital infiltrating lipomatosis of the face (CIL-F). This disease is characterized by unilateral diffuse infiltration of mature adipose cells in the facial soft tissue and is associated with skeletal hypertrophy. This work aims to report a case of a CIL-F patient with right facial asymmetry and progressive growth at adolescent age, causing mandibular asymmetry due to signs of concomitant unilateral condylar hyperplasia. At the age of seventeen, a condylectomy was performed to stop the progression of asymmetric mandibular growth. Five years later, the patient developed CIL-F-associated temporomandibular joint ankylosis, manifesting as progressive restricted mouth opening along with temporal facial pain. In this CIL-F patient, a TMJ reconstruction with an alloplastic total joint prosthesis was successfully performed with optimal maximal mouth opening, complete alleviation of temporal facial pain, and stable dental occlusion one year postoperatively. A TMJ reconstruction with a complete alloplastic total joint prosthesis proved to be a predictable, stable, and safe treatment option in a patient with CIL-F-associated TMJ ankylosis who was previously treated with condylectomy due to progressive mandibular asymmetry. [ABSTRACT FROM AUTHOR]

Objective: Rare disease Background: Multiple symmetric lipomatosis (MSL), also known as Launois-Bensaude syndrome, is a rare syndrome that is frequently misinterpreted as simple obesity. It has seldom been reported. Both conditions can coexist; however, unlike common obesity, in which total body fat is well distributed, patients affected by MSL present with symmetrical, painless fat masses that predominantly appear in the face, neck, occipital region and supraclavicular fossa. Launois-Bensaude syndrome's etiology is still poorly understood but an association with alcohol use has been documented. Case Report: A 49-year-old woman was referred to our department due to class II obesity (body mass index of 39.8 kg/m2). She had a history of arterial hypertension and daily wine consumption (2 glasses on average). She complained of weight gain after menopause and she reported having tried multiple times to lose weight by herself without success. On physical examination, the patient had an unusual pattern of fat distribution: exuberant symmetrical fat masses that were localized in her arms and thighs and spared her face, neck, forearms, and lower legs. She claimed that these masses had a rapid onset and then stabilized. The clinical history and the patient's phenotype were compatible with a non-classic type of Launois-Bensaude syndrome. Conclusions: We concluded that our patient's condition encompasses more than just simple obesity; it involved a distinct form of adiposopathy that led to a completely different clinical approach. A detailed physical examination seems to be key for clinical suspicion of this rare syndrome, which can be a true pitfall in obesity evaluation. [ABSTRACT FROM AUTHOR]

The association of multiple symmetric lipomatosis (MSL) and mitochondrial disorders is not frequent. We report a male patient with multiple lipomas, hearing loss, progressive limb-girdle muscle weakness, neuropathy and myoclonia. Serum creatinine kinase was mildly elevated. Electromyography revealed sensory axonal polyneuropathy and myopathy with sparse denervation. A muscle biopsy showed ragged-red fibers. Next-generation DNA sequencing revealed a heteroplasmic m.8344A>G mutation in the MT-TK gene. To the best of our knowledge, this is the first patient to be reported from Turkey with a diagnosis of MSL and myoclonic epilepsy with ragged red fibers (MERRF). [ABSTRACT FROM AUTHOR]

Background: In contrast to osteoligamentous lumbar stenosis (LSS), outcome of surgical treatment for spinal epidural lipomatosis (SEL) is still not well defined. We present risk factors for SEL and clinical long-term outcome data after surgical treatment for patients with pure SEL and a mixed-type pathology with combined SEL and LSS (SEL+LSS) compared to patients with pure LSS. Methods: From our prospective institutional database, we identified all consecutive patients who were surgically treated for newly diagnosed SEL (n = 31) and SEL+LSS (n = 26) between 2018 and 2022. In addition, a matched control group of patients with pure LSS (n = 30) was compared. Microsurgical treatment aimed for posterior decompression of the spinal canal. Study endpoints were outcome data including clinical symptoms at presentation, MR-morphological analysis, evaluation of pain-free walking distance, pain perception by VAS-N/-R scales, and patient's satisfaction by determination of the Odom score. Results: Patients with osteoligamentous SEL were significantly more likely to suffer from obesity (body mass index (BMI) of 30.2 ± 5.5 kg/m2, p = 0.03), lumbar pain (p = 0.006), and to have received long-term steroid therapy (p = 0.01) compared to patients with SEL+LSS and LSS. In all three groups, posterior decompression of the spinal canal resulted in significant improvement of these symptoms. Patients with SEL had a significant increase in pain-free walking distance during the postoperative course, at discharge, and last follow-up (FU) (p < 0.0001), similar to patients with SEL+LSS and pure LSS. In addition, patients with pure SEL and SEL+LSS had a significant reduction in pain perception, represented by smaller values of VAS-N and -R postoperatively and at FU, similar to patients with pure LSS. In uni- and multivariate analysis, domination of lumbar pain and steroid long-term therapy were significant characteristic risk factors for SEL. Conclusions: Surgical treatment of pure SEL and SEL+LSS allows significant improvement in pain-free walking distance and pain perception immediately postoperatively and in long-term FU, similar to patients with pure LSS. [ABSTRACT FROM AUTHOR]

We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations. [ABSTRACT FROM AUTHOR]

Alipoma is one of the commonest types of benign tumor and a neurolipoma is one of its rarer variants. It is also called as Neurofibrolipoma (NFL) or lipomatosis of nerve. It can occur in a person with neurofibromatosis. The most common sites of occurrence are the volar aspects of the hands, wrists, and forearms. These NFLs are observed in young people, usually men. The median nerve is most commonly involved. Lower-extremity cases are extremely rare. We report here a rare case involving the lower limb without any skeletal deformities occurring in a young man. [ABSTRACT FROM AUTHOR]

This article discusses a rare condition called Madelung's disease (MD), which is characterized by non-encapsulated symmetrical lipomatosis. The article presents a case study of a 60-year-old Chinese man with MD who also had chronic kidney disease, gouty arthritis, hyperlipidemia, and a history of heavy alcohol misuse. The patient had multiple large lipomas in his neck and shoulder, as revealed by magnetic resonance imaging (MRI). The article provides details about the patient's medical history, physical examination findings, and laboratory test results. The document emphasizes the importance of addressing and effectively managing the metabolic disorders associated with MD to prevent serious medical consequences. [Extracted from the article]

Inflammatory bowel disease is one of the most common clinical conditions in industrialized countries. Crohn's disease is a chronic inflammatory condition that can cause lesions from the mouth to the anus. It is a progressive disease and may cause many intestinal and extraintestinal complications. Therefore, early diagnosis and disease management are very important. The aim of this research is to explore new parameters that help facilitate the diagnosis of Crohn's disease. Medical history, physical examination, and histological and microbial examinations are accepted for diagnosis, but studies on anatomical changes are quite inadequate. There are reports that increased ileocecal lipomatosis diameter may be associated with inflammation. But, the relationship between the diameter of ileocecal lipomatosis and Chron's disease has never been discussed before. Patients diagnosed with Crohn's disease (n=102) and patients not diagnosed with Crohn's disease (n=77) were included in this study. The mean diameter of ileocecal lipomatosis between the two groups was compared by evaluating CT images. The values were significantly higher in the Crohn's disease positive group than in the Crohn's disease negative group (p=0.001). The increase in diameter in ileocecal lipomatosis may be a useful marker for the diagnosis of Crohn's disease. Further research is recommended to understand the relationship between Crohn's disease and ileocecal lipomatosis. [ABSTRACT FROM AUTHOR]

PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity. [ABSTRACT FROM AUTHOR]

Key Clinical Message Lipid hemihypertrophy should be considered in the differential diagnosis of neonatal asymmetry. Early recognition and further evaluation for associated disorders are important for appropriate management and surveillance of potential complications. Abstract We present the case of a 5‐day‐old female neonate who presented with a visibly enlarged right thigh, right labia majora, and below the right mandible. This case report highlights the importance of early identification, comprehensive evaluation, and multidisciplinary management in neonates with lipid hemihypertrophy to optimize their long‐term outcomes and quality of life.

Madelung's disease (MD) is a rare disease characterized by diffuse, nonencapsulated, multiple fat masses in different areas of the body. In this case report, we present a case of MD in Asia and its management. A 66-year-old man with a history of hypertension presented with massive growth of soft tissue around the neck, breasts, upper back, and lower abdomen. Preoperative magnetic resonance imaging revealed remarkably hypertrophic fat tissue around the neck and anterior chest was wall, which consistent with the diagnosis of MD. Multiple linear incisions were made on the neck and 763, 186, 635 g of posterior, right, and left fat tissues were excised, respectively. A single wide, transverse incision was done to excise 1,072 g of fat from the upper back. Masses of both breasts were excised, preserving the inferior pedicle, weighing 1,086 (right) and 1,164 g (left). The recovery was optimal and the patient was discharged without complications. In this case, we excised the adipose masses as much as possible and improved contour and symmetry. However, the fat infiltrations in the patient were diffusely distributed, making total fat excision difficult. This rare case report may help in managing patients with MD.

Lipomas are common benign mesenchymal tumours, whereas lipomatoses are uncommon. Familial multiple lipomatosis (FML) is a rare syndrome characterized by multiple usually painless lipomas which may be associated with other conditions. FML is considered to be genetic, with various patterns of inheritance suggested. In this case report, we described a case of multiple familial lipomatosis that was misdiagnosed as dercum's disease. [ABSTRACT FROM AUTHOR]

A middle-aged male with end-stage renal disease underwent cadaveric transplantation. Intraoperatively, a large mass was seen in the pelvis surrounding the vessels, native ureter, and bladder. Ultrasound showed echogenic fatty tissue in the pelvis suggestive of pelvic lipomatosis vessels were dissected, layers were separated with a lot of difficulty. The urinary bladder could not be defined. Hence, ureteroureterostomy was done and a DJ stent was placed. The patient had immediate graft function and attained a nadir creatinine of 0.6 mg/dl on postoperative day 6. [ABSTRACT FROM AUTHOR]

Lipomas are benign tumors composed of adipose tissue that can occur in various locations throughout the body, including the gastrointestinal (GI) tract. Lipoma of the small bowel is a rare clinical condition. It infrequently results in small bowel obstruction and volvulus. In most of the patients, it is an incidental diagnosis. However, it may present with abdominal pain, nausea, vomiting, GI bleeding, and constipation. It is commonly diagnosed using imaging studies, such as computerized tomography scan or magnetic resonance imaging. The management of small bowel lipomas depends on the presence of symptoms and the risk of complications. Asymptomatic lipomas can be safely monitored with imaging studies, as the risk of complications is low. However, in symptomatic cases, surgical or endoscopic treatment may be necessary to relieve obstruction and prevent complications. We report a case of volvulus of small bowel in a middle-aged female presenting to our hospital with acute GI symptoms. [ABSTRACT FROM AUTHOR]

Madelung's disease (MD) is a rare disease characterized by diffuse, nonencapsulated, multiple fat masses in different areas of the body. In this case report, we present a case of MD in Asia and its management. A 66-year-old man with a history of hypertension presented with massive growth of soft tissue around the neck, breasts, upper back, and lower abdomen. Preoperative magnetic resonance imaging revealed remarkably hypertrophic fat tissue around the neck and anterior chest was wall, which consistent with the diagnosis of MD. Multiple linear incisions were made on the neck and 763, 186, 635 g of posterior, right, and left fat tissues were excised, respectively. A single wide, transverse incision was done to excise 1,072 g of fat from the upper back. Masses of both breasts were excised, preserving the inferior pedicle, weighing 1,086 (right) and 1,164 g (left). The recovery was optimal and the patient was discharged without complications. In this case, we excised the adipose masses as much as possible and improved contour and symmetry. However, the fat infiltrations in the patient were diffusely distributed, making total fat excision difficult. This rare case report may help in managing patients with MD. [ABSTRACT FROM AUTHOR]

Syringomyelia associated with epidural lipomatosis is a rare finding. Only three published cases of epidural lipomatosis associated with syringomyelia exist in the literature. We report the case of a 46-year-old woman who presented with progressive myelopathy over an 18-month period. Imaging revealed significant thoracic spinal cord compression secondary to epidural lipomatosis from T3 to T8 with cephalad cervical syringomyelia extending from C7 to T1. Imaging was unremarkable for Chiari malformation or a craniospinal space-occupying lesion. A T2 to T8 laminoplasty was performed, removing excessive epidural adipose tissue to decompress the thoracic spinal cord. Postoperatively, the patient reported symptom improvement with complete symptom resolution at 3 months. Follow-up imaging at 3-months demonstrated thoracic spinal cord decompression with mild syrinx reduction. At two-year follow-up the patient remained asymptomatic with unchanged imaging. Syringomyelia in the setting epidural lipomatosis is a rare finding. [ABSTRACT FROM AUTHOR]

71‐year‐old male with epidural spinal lipomatosis and spondylolisthesis. Conservative treatment failed, and a spinal fusion and laminectomy were performed. Postoperatively, the patient reported a reduction in pain; however, the pain recurred soon after surgery. After losing 53 pounds with medical management, the patient reported a complete absence of pain. Epidural spinal lipomatosis is a rare condition characterized by the deposition and hypertrophy of adipose tissue in the spinal canal, sometimes resulting in stenosis or compression of the dural sac and nerve roots (Glob Spine J. 2018;9:658). Although several factors are considered to precipitate the disease, steroid use (J Am Acad Dermatol. 2017;76:1) and obesity (Neurosurg Focus. 2004;16:1) are considered among the most prevalent, with obesity controversially being listed under "idiopathic" causes occasionally (Glob Spine J. 2018;9:658). Weight reduction and decreased steroid use are first‐line treatments for this disorder, and usually surgery is considered only when conservative treatment is ineffective (Glob Spine J. 2018;9:658). To describe a case of treating spinal lipomatosis within an evidence‐based multidisciplinary medical weight management clinic. [ABSTRACT FROM AUTHOR]