Managing facial infiltrating lipomatosis associated with PIK3CA mutation:From surgery to targeted therapy

Facial infiltrating lipomatosis(FIL)is a congenital asymmetrical deformity of the maxillofacial region that can significantly affect a patient’s facial appearance and function.With the development of sequencing technologies,PIK3CA mutations are considered among the potential etiologies of FIL.The management and treatment of FIL involves plastic surgery;more recently,an improved understanding of its pathogenesis has given rise to new treatment options,including targeted therapy.Here we report the clinical data of two patients diagnosed with FIL and present current curative concepts.

Pelvic lipomatosis with cystitis glandularis managed with cyclooxygenase-2 inhibitor:A case report

BACKGROUND Pelvic lipomatosis(PL)is a rare benign condition with characteristic overgrowth of histologically benign fat and invasion and compression of pelvic organs,often leading to non-specific lower urinary tract symptoms(LUTS).Approximately 40%of patients with PL have cystitis glandularis(CG).The cause of PL combined with CG is poorly understood,and there is currently no effective treatment.Refractory CG with upper urinary tract obstruction even requires partial or radical bladder resection.CASE SUMMARY In this case,a patient suffering from PL with CG was treated by transurethral resection of bladder tumour(TUR-BT)and oral administration of celecoxib,a selective cyclooxygenase-2(COX-2)inhibitor.The LUTS were alleviated,and the cystoscopy results improved significantly.Immunohistochemistry showed upregulated COX-2 expression in the epithelium of TUR-BT samples,suggesting that COX-2 may participate in the pathophysiological process of PL combined with CG.CONCLUSION We report for the first time that celecoxib may be an effective treatment strategy for PL combined with refractory CG.

Ileo-colonic intussusception secondary to small-bowel lipomatosis:A case report

Intestinal lipomatosis is a rare disease with an incidence at autopsy ranging from 0.04% to 4.5%.Because the lipomas are diffusely distributed in the intestine,most patients are symptom-free,and invasive intervention is not advised by most doctors.Here,we describe a case with intussusception due to small-bowel lipomatosis.Partial small bowel resection and anastomosis were performed because the intestinal wall was on the verge of perforation.This case indicates that regular followup is necessary and endoscopic treatment should be considered to avoid surgical procedures if the lipoma is large enough to cause intestinal obstruction.

Benign symmetric lipomatosis (Madelung’s disease) with concomitant incarcerated femoral hernia: A case report

BACKGROUND Benign symmetric lipomatosis(BSL)was first described by Brodie in 1846 and defined as Madelung’s disease by Madelung in 1888.At present,about 400 cases have been reported worldwide.Across these cases,surgical resection remains the recommended treatment.Here we report a case of neck BSL with concomitant thick fatty deposit in the inguinal region,which concealed the signs of a right incarcerated femoral hernia.CASE SUMMARY A 69-year-old male patient was admitted to our hospital with“abdominal pain,abdominal distension,nausea-vomiting and difficult defecation for half a month”.Moreover,he had a mass in the right inguinal region for more than 10 years.An egg-sized neck mass also developed 15 years ago and had developed into a full neck enlargement 1 year later.In addition,the patient had a history of heavy alcohol consumption for more than 40 years.With the aid of computerized tomography scan,the patient was diagnosed with BSL and a low intestinal mechanical obstruction caused by a right inguinal incarcerated hernia.Under general anesthesia,right inguinal incarcerated femoral hernia loosening and tension-free hernia repair was performed.However,this patient did not receive BSL resection.After a 1-year follow-up,no recurrence of the right inguinal femoral hernia was found.Moreover,no increase in fat accumulation was found in the neck or other areas.CONCLUSION Secretive intraperitoneal fat increase may be difficult to detect,but a conservative treatment strategy can be adopted as long as it does not significantly affect the quality-of-life.

Synovial lipomatosis: A rare cause of knee pain in an adolescent female

Synovial lipomatosis is a benign proliferative disease of the subsynovial adipose which can lead to a variety of presentations. Cases of synovial lipomatosis in children or adolescents are rare. This case report describes an adolescent patient with a rare bilateral presentation of synovial lipomatosis. She had been treated for years prior to her presentation for juvenile idiopathic arthritis. She presented with chronic bilateral knee pain, swelling, and mechanical symptoms. Bilateral MR imaging demonstrated effusions, hypertrophy of the synovium, and polyp-like projections of tissue with the same signal intensity as fat which is pathognomonic for synovial lipomatosis. Arthroscopic synovectomy and extensive debridement of polyp like fat projections of the right knee was performed. Histopathology was consistent with the synovial lipomatosis diagnosis. Postoperatively, the patient was satisfied with her outcome with improved pain relief and function in her right knee.

Pelvic lipomatosis and renal transplantation:A case report

BACKGROUND Pelvic lipomatosis is a rare disease of unknown etiology,characterized by the overgrowth of pelvic adipose tissue that causes compression of the urinary tract including the bladder and ureters,rectum and blood vessels.The patient may progressively develop obstructive uropathy which could subsequently lead to renal failure.At present,there are no reports of renal transplantation due to uremia caused by pelvic lipomatosis.The ideal management of patients with pelvic lipomatosis after renal transplantation is not yet well-established due to the lack of literature and follow-up data.CASE SUMMARY We report a 37-year-old male patient with pelvic lipomatosis who received a successful living donor renal transplantation on July 22,2015.The operation was complicated as the iliac vessels and bladder were wrapped entirely in excessive abnormal fat.The external iliac artery and vein were located using ultrasonographic guidance.The adipose tissue around the right bladder was removed as far as possible,and the graft ureter was reimplanted into the bladder,using the Lich-Gregoir technique.At 22 mo after transplantation,graft percutaneous nephrostomy was performed under ultrasonographic guidance for urinary diversion due to hydronephrosis of the graft kidney.Follow-up at four years showed that the renal allograft function was stable.CONCLUSION When patients with pelvic lipomatosis develop renal failure,renal transplantation could be a feasible treatment strategy.

Benign symmetric lipomatosis of the knees

Benign symmetric lipomatosis（BSL） is a rare disease characterized by the presence of multiple, symmetric and nonencapsulated fat masses in the face. neck and other areas. It is commonly seen in middle-aged Caucasian Mediterranean males, while its etiology is still not clear. The majority of the patients with BSL have a history of alcohol abuse and hepatopathy. BSL of the limbs is very rare. This article reports a unique case of a 60-year-old Chinese woman with involvement of the knees confirmed by the results of magnetic resonance imaging（MR1） and histopathology, which was not described previously in published literatures.

Renal Replacement Lipomatosis—A Rare Benign Condition

Introduction: Renal replacement lipomatosis is a rare condition that occurs at the end of the spectrum of renal tissue replacement by fat. It is usually unilateral and occurs as a result of severe renal atrophy or destruction usually due to chronic calculus disease, chronic pyelonephritis and renal tuberculosis. The most commonly used diagnostic investigation remains CECT (contrast enhanced computed tomography) scan. Herein we report our series of patients with total renal replacement lipomatosistreated by nephrectomy. Materials & Methods: We retrospectively reviewed our hospital data for cases of RRL, presented and treated during the period Jan. 2006-Dec. 2015. The age, gender, presenting symptoms, clinical and laboratory findings were noted. The indications for surgery, postoperative outcomes and complications were similarly noted and analyzed. Results: Five patients (three females and two males) with a mean age of 48.4 ± 3.2 years presented with symptoms of pain. Computed tomography (CT) in these patients showed the affected kidney to be completely distorted and replaced by ill-defined fatty attenuating lesion. Open nephrectomy was done in all these patients. Histo-pathological report (HPR) revealed features of RRL with renal calculi. Conclusions: Renal replacement lipomatosis is an uncommon entity, and one should have a high index of suspicion when dealing with suspicious lesions similar to xanthogranulomatous pyelonephritis. Specific imaging, operative, and pathological differences may provide clues for the differential diagnosis.

Diffuse Lipomatosis of Thyroid—Case Report

Diffuse lipomatosis of thyroid gland is very rare disease, characterized by diffuse proliferation of adipose tissue in the thyroid gland, the pathophysiology of adipose tissue infiltration in the thyroid gland remains unknown. We report a case of a 55-year-old female who presented 6 months ago a dysphonia, ultrasound of the neck revealed the presence diffuse goiter with heterogeneous echogenicity, her thyroid hormone levels were normal, thyroid isotope scanning showed heterogeneous uptake of radioactivity and coexistence of cold and hot nodules. The patient underwent total thyroidectomy. Histological study concluded to the diagnosis of diffuse lipomatosis of thyroid gland.

Corticosteroid-Induced Multifocal and Extensive Lipomatosis: A Case Report

Introduction: Corticosteroid-induced lipomatosis are uncommon situation. We report a case of an extensive lipomatosis in a rheumatoid arthritis patient, who received a long term steroid therapy. Case report: A 49-year-old rheumatoid arthritis woman, who received for two years a mean dose of 15 mg/ day of prednisone equivalent, was admitted to the hospital for a six months history of progressive abdominal distension and dyspnea. Physical exam revealed typical symptoms of Cushing’s syndrome and an important increase of abdominal volume. Lipomatosis diagnosis with mesenteric, mediastinal, retroperitoneal and epidural localizations, was rapidly confirmed by sonography and computed tomography (CT) exams. Management was based on corticosteroid reduction as well as use of hygiene and dietary measures. Therapeutic efficacy was noted on a clinical basis within one year. Discussion: lipomatosis occurs as a less known complication of long-term steroid therapy. Its localizations are numerous. Epidural and mediastinal lipomatosis are more frequent than mesenteric or retroperitoneal ones. Most frequently asymptomatic, lipomatosis could sometimes be revealed by false symptoms. Medical treatment including corticosteroid with drawal or reduction and calorie restriction, can lead to clinical improvement. Surgery is reseved in advanced forms with serious complications.

Testicular Lipomatosis without Evidence of Cowden’s Disease

Background: Testicular lipomatosis is a very rare and benign disorder of the testicles. It usually presents as multiple bilateral ill-defined hyper-echoic intra-testicular lesions of different sizes but generally with maximum 4 mm. Testicular lipomatosis is usually reported in association with Cowden’s syndrome. Aim: We aimed to show that there are cases of testicular lipomatosis occurring in the absence of Cowden’s syndrome. Case Presentation: We present a 28-year-old man with testicular pain, who was finally diagnosed as having isolated testicular lipomatosis without other clinical and biochemical abnormalities using magnetic resonance imaging (MRI) technique. Conclusion: We showed that the testicular lipomatosis may occur and be detected without any evidence of Cowden’s disease.

A case of benign symmetrical lipomatosis

A51-year-old man from Inner Mongolia, China was admitted to the Department of General Surgery,Beijing Shijitan Hospital on November 28, 2011, with massive thickening of the neck （Figure I A）. The patient had undergone excision of lipoma like egg size in his double shoulders 18 years before. One year later the tumor rectlrred m situ. The increase of the volume of his neck was observed for over 17 years, and the patient had no history of dyspnea and dysphagia.

颈部良性对称性脂肪瘤病1例

1临床资料患者,男,55岁,主因颈部弥漫性肿大1年进行性加重,伴打鼾、憋气半年入院。患者1年前无明显诱因出现颈部膨隆,无发热、疼痛等不适,未予重视。此后颈前膨隆范围逐渐扩大,蔓延至全颈部,并向颈下、枕后、项背部蔓延,呈弥漫性生长,速度缓慢并伴有吞咽困难。近半年来颈部弥漫性肿大进行性加重,伴打鼾憋气、夜间不能平卧、夜尿次数增多、白天嗜睡乏力而入院。既往体健,

Diagnostic and surgical challenges of progressive neck and upper back painless masses in Madelung’s disease: A case report and review of literature

BACKGROUND Madelung’s disease(MD)is a chronic alcoholism-associated metabolic syndrome characterized by symmetrical subcutaneous deposition of adipose tissue in the head,neck,shoulders,back,trunk,and nerve roots of the upper and lower limbs.It is relatively rare in Asian individuals and is prone to misdiagnosis.Herein,we report a case of a patient with MD who had undergone surgical management at our hospital,and we discuss the pathogenesis,diagnosis,and treatment of MD.CASE SUMMARY We report a case of MD in a 65-year-old man of Han descent.The patient had multiple,painless progressive masses for more than five years in the neck and more than 30 years in the upper back.Because of neck mobility limitations and progressive cosmetic deformities caused by the masses,he was admitted to our hospital.He drank approximately 500 mL of liquor per day and smoked heavily for more than 30 years.Contrast-enhanced computed tomography of the neck and chest documented abundant unencapsulated,subcutaneous fatty deposits.We prepared a staged operation plan.The patient was diagnosed with MD;he was advised to abstain from alcohol and was followed up regularly.After a 3-month follow-up,no recurrence of fat accumulation was found in the surgical areas.CONCLUSION This report presents a case of surgical treatment for MD to improve clinicians'understanding of the disease.

良性对称性脂肪瘤病

1.1临床资料。2012年11月-2016年8月广西壮族自治区人民医院耳鼻咽喉科颈部脂肪瘤患者9例,年龄43-67岁,均为中老年男性,病史为10个月-30年不等。9例患者病变区均无疼痛、压痛,无呼吸困难、吞咽困难,无咽喉疼痛,无声音嘶哑,无咳嗽、咳痰。查体：肿物大小约4 cm×4.5 cm×6 cm-18 cm×12 cm×9 cm,质软,表面光滑,无红肿、破溃,包绕颈部,上至下颌骨,下达甲状软骨,

颈部及腰部多发良性对称性脂肪瘤病1例

1临床资料患者,男,53岁。因双侧颈后肿物3年,增大2周于2017-07-06入院。患者诉3年前无明显诱因颈后两侧出现对称性、直接1 cm类圆形包块,无红肿、疼痛,无畏寒、发热,无头晕、头痛,就诊当地县医院,行颈部肿物彩超示:考虑颈后脂肪瘤。建议戒酒后行手术治疗。2周前感肿物明显增大,约拳头大小,就诊我院,行彩超示:双侧颈后体表包块处大片脂肪样低回声区,考虑良性对称性脂肪瘤病。门诊拟"脂肪瘤"收住院手术。

Exploring the metabolic syndrome: Nonalcoholic fatty pancreas disease

After the first description of fatty pancreas in 1933,the effects of pancreatic steatosis have been poorly investigated,compared with that of the liver. However,the interest of research is increasing. Fat accumulation,associated with obesity and the metabolic syndrome(Met S),has been defined as "fatty infiltration" or "nonalcoholic fatty pancreas disease"(NAFPD). The term "fatty replacement" describes a distinct phenomenon characterized by death of acinar cells and replacement by adipose tissue. Risk factors for developing NAFPD include obesity,increasing age,male sex,hypertension,dyslipidemia,alcohol and hyperferritinemia. Increasing evidence support the role of pancreatic fat in the development of type 2 diabetes mellitus,Met S,atherosclerosis,severe acute pancreatitis and even pancreatic cancer. Evidence exists that fatty pancreas could be used as the initial indicator of "ectopic fat deposition",which is a key element of nonalcoholic fatty liver disease and/or Met S. Moreover,in patients with fatty pancreas,pancreaticoduodenectomy is associated with an increased risk of intraoperative blood loss and post-operative pancreatic fistula.

Multidisciplinary diagnostic dilemma in differentiating Madelung’s disease—the value of superb microvascular imaging technique:A case report

BACKGROUND Madelung’s disease,also known as multiple symmetrical lipomatosis,is a rare,underrecognized disorder of fat metabolism that results in unusual accumulation of subcutaneous fat deposits around the neck,shoulders,upper arms,trunk,hips,and upper thighs.Our case demonstrates the importance of differential diagnosis and the value of a superb microvascular imaging technique for suspecting and confirming Madelung’s disease.Timely diagnosis and alcohol abstinence could prevent the progression of growing fatty masses and prevent surgery.CASE SUMMARY A 62-year-old male was admitted to the Rheumatology center complaining of symmetric subcutaneous tumors in the area of the parotid and submandibular salivary glands,small soft masses in the occiput and upper third of the forearm,rashes on calves.A high titer of rheumatoid factor and low concentrations of serum complements were detected.The high-end ultrasound and magnetic resonance imaging examinations of all affected areas of the soft tissues showed predominantly adipose tissue(lipomas)without suspicion of liposarcoma.The biopsy from the small salivary gland revealed no pathology.After evaluating the patient’s clinical presentation(symmetrical lipomatosis,cirrhosis,gynecomastia,anemia,hyperuricemia),Madelung’s disease,type I,along with the psoriatic rash and psoriatic arthritis and secondary liver cirrhosis were established.CONCLUSION Madelung’s disease consists of many co-occurring disorders imitating and overlapping with other conditions.Ultrasonography is the first choice for suspecting and confirming symmetrical lipomatosis.

伴有神经系统损害的多发性对称性脂肪瘤病1例

多发性对称性脂肪瘤病又称马德龙病（Madelung＇s disease）,是一种罕见的脂肪代谢异常性疾病,常见的临床表现为脂肪组织弥漫性、对称性的沉积于皮下浅筋膜间隙及深筋膜间隙,合并神经系统损害者少见-（[1]）,我科遇到1例此类患者,现报道如下。1临床资料患者,男,69岁,因颈部无痛性肿块2年余入院。患者于2年前无明显诱因出现后颈部肿块,呈渐进性增大,下颌部、颈前部亦出现无痛性弥漫性肿块,

Madelung disease:A case report

BACKGROUND Madelung disease(MD)is a rare disorder of fat metabolism,resulting in diffuse,symmetrical and painless deposition of adipose tissue in subcutaneous superficial fascial space and/or deep fascia space of the head,neck and shoulders,etc.CASE SUMMARY We report a case of MD accompanied by type 2 diabetes in a 61-year-old Chinese male.The patient presented with progressive fat deposition over the mandible,neck,abdomen and elbows.He had a history of smoking and alcohol abuse.Excessive fat deposition was seen in the mandible,elbows and the abdominal area of the patient by ultrasonic examination.Computed tomography showed diffuse and marked soft masses(fat density)in the subcutaneous superficial fascia space of the neck.The patient was diagnosed with MD.He was advised to abstain from alcohol and was followed up regularly.CONCLUSION This report discusses the pathogenesis,diagnosis and treatment of MD,and raises the clinician’s awareness of this disease.