Article

Familial multiple lipomatosis

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Abstract

Familial multiple lipomatosis is an extremely rare disease. The disease usually does not affect the daily life of FML victims, but they may experience difficulty in performing everyday physical tasks if the lipomas are multiple and large. Inheritance is frequently by autosomal dominant transmission, although cases with recessive inheritance have also been reported. To determine the pattern of inheritance of the disease in a family with 83 members spanning three generations. A complete family analysis was performed and all surviving members of the family were examined. Laboratory investigations were conducted in those with FML, including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. There were no consanguineous relationships between spouses in the family. The disease was first seen on the neck of the (male) index patient. This patient had 4 sons, 8 daughters and 60 grandchildren. The disease was established in four of his daughters and two of his sons. One of the female grandchildren whose mother has the disease was also affected. The laboratory findings were normal for all patients. Our findings showed that a) the disease is transmitted by the autosomal dominant route of inheritance; and b) lipomas observed at an early age may be numerous and large, may diffuse, and sometimes have to be excised surgically.

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... In FML the lipomas are usually painless and patients are not troubled by the disease. Sometimes these numerous, large, encapsulated or diffuse fatty tumours have to be surgically excised because they can create a problem (Keskin et al 2002). In our patient the lipomas of the thighs, thorax and abdomen were so large that the patient was unable to wear trousers and appropriate clothing. ...
... FML is a rare disorder of lipomas on the thorax, neck, arms, abdomen and thighs and the symptoms were first described in 1937 (Murchinson 1937). It is most likely an autosomal disorder and is met in men and women (Keskin et al 2002). The lipomas consist of fat which is rubbery and cohesive (Herbst). ...
... FML is usually transmitted in an autosomal dominant fashion (Gologorski et al 2007;Mohar 1980), but also cases with a recessive inheritance have been reported. A translocation involving the high-mobility-group protein isoform I-C on chromosome 12 and the lipoma preferred partner gene on chromosome 3 is implicated in the disease genesis (Keskin et al 2002;Rosmaninho et al 2012;Schonmakers et al 1995;Mrozek et al 1993). We did not perform a DNA analysis for our patient. ...
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Background: Familial multiple lipomatosis (FML) is an extremely rare disease which does not affect the daily life of the patients, but if the lipomas are multiple and large they can affect the function of the affected limbs. The disease is transmitted in an autosomal dominant fashion, but also cases with a recessive inheritance have also been reported. Objectives: This article presents the clinical case of a male with familial multiple lipomatosis in which we want to analyze the clinical particularities, family history and paraclinic values. Methods: In this case we evaluated the clinical localization of nodules and their history of growing, the associated medical history and the family history of the patient, and the laboratory investigation including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. Results: The past medical history of the patient showed no diseases, except the 3rd degree obesity and an occasionally alcohol consumption. Similar but less extensive lesions were observed in his grandfather and a cousin. The physical examination revealed multiple, subcutaneous, soft, mobile and non painful nodules located in the bilateral arms, forearms and thighs, abdomen, thorax and perineum. The lesions from the abdomen were the biggest and they deformed the region. The lipomas of the thighs, thorax and abdomen were so large that the patient was unable to wear trousers and appropriate clothing. The lipomas in the right upper limb interfered with elbow flexion. The laboratory findings were normal. Conclusions: The diagnosis of FML was based on the characteristic clinical history, family history and histopathology. Our patient had more than 100 lipomas, some of them large and because of the limitation of limbs flexion they have to be excised surgically.
... [5]. Sometimes these fatty tumors are numerous and large and they have to be excised because patients cannot wear appropriate clothing or interfere with joint movement [5,6]. We present a case of a FML-affected patient diagnosed with large intraabdominal tumor with vague origin, postoperatively determined as an EGIST. ...
... Multiple lipomas, found on the trunk and extremities with a relative sparing of the head and shoulders, appearing mostly in the third decade of life and affecting several members of a family, may be highly suggestive of FML [5,8], as in our case. Typically for FML, our patient's lipomas were painless and they did not limit his daily activity [5][6][7]. The main treatment of FML is surgical excision [5]. ...
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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Rarely, GISTs can be located in mesentery, retroperitoneal space, omentum or pancreas. In these cases, the neoplasm is defined as "extra-gastrointestinal stromal tumors" (EGISTs). We reported a case of a 63-year-old male patient diagnosed by computer tomography with large intraabdominal tumor with vague origin, postoperatively determined as an EGIST. The diagnosis was confirmed by immunohistochemical study. The patient had multiple, subcutaneous, painless lipomas localized in the arms, forearms, thighs, abdomen and thorax. Because of the family history and the clinical presentation the disease was determined as familial multiple lipomatosis (FML). We performed radical tumor resection with distal pancreatectomy and splenectomy, and abdominoplasty, removing redundant skin and underlying subcutaneous fat tissue with multiple lipomas. FML is a rare hereditary benign disease. On the other hand, only few cases with familial GIST have been reported. In cases with extensive abdominal involvement, the primary origin of EGIST may be impossible to determine so the differential diagnosis is very difficult. Although we could not prove correlation between the observed diseases, they are extremely rare and their combination is unusual which makes the presented case valuable and interesting. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
... Familial multiple lipomatosis is another condition of altered FD that is characterised by the presence of multiple lipomas on the body. Although an autosomal-dominant inheritance has been proposed [47], information on the genetic background of lipomatosis is sparse and research has so far focused on HMGA2 and its fusion partners LPP and LHFP484950. Of note, transgenic mice expressing truncated Hmga2 still retaining the three AT-hook domains are characterised by a giant phenotype and hyperplasia of white adipose tissue [51] whereas, on the other hand, HMGA2 knockout mice present a pygmy phenotype with hypoplasia of white adipose tissue [52]. ...
... Familial multiple lipomatosis is another condition of altered FD that is characterised by the presence of multiple lipomas on the body. Although an autosomal-dominant inheritance has been proposed [47], information on the genetic background of lipomatosis is sparse and research has so far focused on HMGA2 and its fusion partners LPP and LHFP [48][49][50]. Of note, transgenic mice expressing truncated Hmga2 still retaining the three AT-hook domains are characterised by a giant phenotype and hyperplasia of white adipose tissue [51] whereas, on the other hand, HMGA2 knockout mice present a pygmy phenotype with hypoplasia of white adipose tissue [52]. ...
Article
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Fat stored in visceral depots makes obese individuals more prone to complications than subcutaneous fat. There is good evidence that body fat distribution (FD) is controlled by genetic factors. WHR, a surrogate measure of FD, shows significant heritability of up to ∼60%, even after adjusting for BMI. Genetic variants have been linked to various forms of altered FD such as lipodystrophies; however, the polygenic background of visceral obesity has only been sparsely investigated in the past. Recent genome-wide association studies (GWAS) for measures of FD revealed numerous loci harbouring genes potentially regulating FD. In addition, genes with fat depot-specific expression patterns (in particular subcutaneous vs visceral adipose tissue) provide plausible candidate genes involved in the regulation of FD. Many of these genes are differentially expressed in various fat compartments and correlate with obesity-related traits, thus further supporting their role as potential mediators of metabolic alterations associated with a distinct FD. Finally, developmental genes may at a very early stage determine specific FD in later life. Indeed, genes such as TBX15 not only manifest differential expression in various fat depots, but also correlate with obesity and related traits. Moreover, recent GWAS identified several polymorphisms in developmental genes (including TBX15, HOXC13, RSPO3 and CPEB4) strongly associated with FD. More accurate methods, including cardiometabolic imaging, for assessment of FD are needed to promote our understanding in this field, where the main focus is now to unravel the yet unknown biological function of these novel 'fat distribution genes'.
... The prevalence of soft tissue lipoma has been estimated at 2.1 per 100 persons. [4,[6][7][8] In 2002, the World Health Organization Committee for the Classification of Soft Tissue Tumors categorized benign lipomatous lesions involving the soft tissues into nine entities: lipoma, lipomatosis, lipomatosis of nerve, lipoblastoma/lipoblastomatosis, angiolipoma, myolipoma of soft tissue, chondroid lipoma, spindle cell/pleomorphic lipoma, and hibernoma. [3] It is unclear if a soft tissue lipoma represents a benign neoplasm, a local hyperplasia of fat cells, or a combination of both processes. ...
... [1,3,6] Multiple lipomas tend to be commoner in males (M:F ratio of 6.6:1); familial in approximately 30% of cases; predominate in the back, shoulder, and upper arms; may be symmetric; show a predilection for the extensor surface; and are most common in the fifth to sixth decades of life. [1,3,6,7] In 1992, Enzi et al. [9] reported six cases of shoulder girdle lipomatosis. All were in women between the ages of 38 and 72 years. ...
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We present four cases of shoulder lipomas in two females and two males in their fourth to fifth decades of life. All four lipomas were big. Three were subcutaneous and one was intermuscular. None of them were associated with any functional limitation of the affected shoulder. Subcutaneous or intermuscular lipomas around the shoulder do not appear to affect shoulder functions. Complete surgical excision is rewarding and was achieved under local anesthesia in all our patients with no incidence of recurrence.
... 6,8,13,14 It has been widely held that this disorder exhibit a preference for males, however, a large number of works demonstrate that both sexes are equally affected. [15][16][17] Although it is considered a benign disease, cosmetic concerns may appear in some individuals, impairing their quality of life. Moreover, it is also prevalent in obese individuals. ...
... 31 Nevertheless, the pedigrees indicate that the proportion of individuals affected in both sexes was similar, leading to a sex ratio close to 1:1 (10 men vs 13 females) which may underestimate the true prevalence of FML. 6,8,16 Interestingly, the total number of lipomas noted in women was higher compared to the unique male examined. 1,14 Factors such as overweight and exacerbated growth of nodules during and after pregnancies suggest that exogenous factors (diet), metabolic changes (dyslipidemia or alterations in fatty acid desaturation) and hormonal mechanisms may be involved in adipocyte hyperplasia. ...
Article
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Background: Familial multiple lipomatosis (FML) is an autosomal dominant disorder characterized by the slow growth of encapsulated nodules spread across the trunk and limbs. Currently, there is no specific etiology; therefore, its molecular and biological bases need to be better understood. High-throughput sequencing technologies appear to be a cost-effective tool and have a pivotal role in elucidating different genodermatoses. Objective: This study aimed to perform a clinical and molecular characterization of constitutional DNA of seven individuals belonging to five unrelated families diagnosed with FML. Patients and methods: Clinical aspects were obtained from medical records and physical examination. HMGA2 gene was investigated using Sanger sequencing method. Mutational analysis of other genes associated with syndromic lipomatosis AKT1, APC, PIK3CA, MEN-1, and PTEN was performed through next-generation sequencing. Results: In this series, FML was predominant among women who were overweight and reaching the age of thirty and was associated with gastrointestinal comorbidity. Histopathological diagnosis of biopsies revealed typical features of both lipoma and angiolipoma. We identified two identical novel variants with unknown significance in exon 5 of the HMGA2 gene in two participants of different families. There were no additional changes in exons 1 to 4 of the HMGA2 gene. Multi-gene panel was normal in all cases. Conclusion: Variants found in exon 5 of the HMGA2 gene have not been described and have an uncertain significance in the genesis of FML. Further studies, including a more significant number of affected individuals and functional analysis of the novel variants of HGMA2 gene, should be undertaken to better understand its biological role in FML.
... Also, histologically, neurofibromas are composed of spindled cells with wavy nuclei in a loose acidophilic stroma.Subcutaneous nodules of cutaneous leiomyomas are differentiable from nodules of CA as these are hyperpigmented and painful and on histology show interlacing fascicles of spindle-shaped cells with fibrillary eosinophilic cytoplasm and bluntended cigar-shaped nuclei in contrast to nodular CA [9].Sometimes, cutaneous manifestations of sarcoidosis may present as subcutaneous nodules but it is a granulomatous disease showing characteristic histology consisting of non-caseating granulomas, which was not seen in the present case [10].Lipomatosis can simulate nodular CA clinically and presents with multiple soft subcutaneous nodules on trunk and extremities. It may occur as a autosomal-dominant disease with familial inheritance [11]. Moreover, histologically lipomatosis comprise of multiple vacuolated lipoblasts and is entirely different from nodular CA histologically.Cutaneous lymphoma may also present as multiple skin nodules but is associated with proliferation of abnormal lymphoma cells on FNAC, which was ruled out in the present case.Kaposi sarcoma is a low-grade angio-proliferative neoplasm. ...
... Das bekannteste Beispiel eines benignen Weichteiltumors auf hereditärer Basis ist das Lipom im Rahmen der Familiären Hereditären Lipomatose [59]. Weitere genetische Erkrankungen, bei denen es zum Auftreten von Weichteiltumoren kommen kann, sind die Familiäre Adenomatöse Polyposis, das Gardner-Syndrom und das Li-Fraumeni-Syndrom [8,94,120]. ...
... Local excision and suction are the treatment options for most lipomas [4]. An inherited property has been identified in one-third of the patients [5,6] and most of the cases were reported as autosomal dominant [7]. In these patients, mutations in the transfer ribonucleic acid genes in the mitochondrial DNA have been identified. ...
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Introduction Gluten enteropathy (celiac disease) is a chronic disease and presents as diarrhea, weight loss and anemia. Case presentation A 35-year-old Caucasian man with gluten enteropathy, familial multiple lipomas and seborrheic keratosis was seen in our clinic. After confirmation of the diagnosis, he was advised to follow a gluten-free diet. His clinical improvement was evaluated and confirmed with biopsy. Conclusion Celiac disease is known to be associated with many systemic diseases and skin lesions but its association with familial multiple lipomas has not yet been reported.
... These disorders differ in whether or not pain is present and in the location of fatty masses [10,16,19]. The pathophysiology of RADs is believed to be different from the generalized accumulation of fat in obesity because the abnormal SAT follows discrete patterns, can occur in both obese and non-obese individuals [10,20], may include loss of normal fat (as in MSL) [21], and may involve alterations of the lymphatic system [21,22]. A previous study suggested that inflammation is involved in the selective expansion of the adipose tissue in DD through elevated interleukin IL-6 expression in affected SAT, and increased blood IL-13 levels in DD women compared to controls [23]. ...
Article
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Elevated stearoyl-CoA desaturase activity has been described in obese states, with an increased desaturation index (DI) suggesting enhanced lipogenesis. Differences in the DI among various phenotypes of abnormal adiposity have not been studied. Abnormal accumulation of subcutaneous adipose tissue occurs in rare adipose disorders (RADs) including Dercum's disease (DD), multiple symmetric lipomatosis (MSL), and familial multiple lipomatosis (FML). Examining the DI in subcutaneous fat of people with DD, MSL and FML may provide information on adipose tissue fatty acid metabolism in these disorders. The aims of this pilot study were: 1) to determine if differences in adipose tissue DIs are present among RADs, and 2) to determine if the DIs correlate to clinical or biochemical parameters. Subcutaneous adipose tissue was obtained from human participants with DD (n = 6), MSL (n = 5), FML (n = 8) and obese Controls (n = 6). Fatty acid composition was determined by gas chromatography/mass spectrometry. The DIs (palmitoleic/palmitic, oleic/stearic, vaccenic/stearic ratios) were calculated from the gas chromatogram peak intensities. SCD1 gene expression was determined. Spearman's correlations between the DIs and available clinical or biochemical data were performed. In DD subjects, the vaccenic/stearic index was lower (p < 0.05) in comparison to Controls. Percent of total of the saturated fatty acid myristic acid was higher in DD compared with Controls and FML. Percent of monounsaturated vaccenic acid in DD trended lower when compared with Controls, and was decreased in comparison to FML. In MSL, total percent of the polyunsaturated fatty acids was significantly lower than in the Control group (p < 0.05). In the total cohort of subjects, the palmitoleic/palmitic and oleic/stearic DIs positively correlated with age, BMI, and percent body fat. The positive associations between the DIs and measures of adiposity (BMI and percent body fat) support increased desaturase activity in obesity. The lower vaccenic/stearic DI in DD SAT compared with Controls suggests presence of other factors involved in fat accumulation in addition to lifestyle. Other mechanisms driving fat accumulation in DD such as inflammation or lymphatic dysfunction should be investigated.
... Certainly GON activation leads to frontal head pain in humans [24] and GON injection has been used therapeutically in a range of primary headaches [25]. In addition, the tendency to develop a lipoma is not necessarily hereditary, although hereditary conditions such as familial multiple lipomatosis, may include lipoma development [26,27]. Cases have been reported where minor injuries are alleged to have triggered the growth of a lipoma, called " post-traumatic lipomas [28]. ...
Article
Lipomas are very common benign tumors; however, only four cases of headaches caused by extracranial lipomas have been reported. Moreover, the headache phenotypes and clinical course have been poorly described. Herein, we describe a case of 50 year-old-man who developed new onset predominately right-sided frontotemporal cluster-like headache since age 48. In 2005, he had generalized headaches that improved after a resection of an occipital lipoma. Imaging showed regrowth of the lipoma at the C1-C2 spinal level. Treatment with Excedrin tabs and sumatriptan injections helped within 20 minutes. His symptoms were worse in the summer and spring. He spontaneously improved after a few months. We review cases of lipoma-induced headaches in the literature, several of which resemble a trigeminal autonomic cephalalgias and are associated with compression of trigeminal or cervical peripheral nociceptors. This case offers the opportunity to discuss the possible pathophysiological mechanisms underlying cluster-like headaches symptoms and the relation with pain referral from cervical structures to the head.
... The association with a multiple familial lipomatosis is poorly described [25]. The progressive apparition of lipomas within deep organs (colon) in patients with familial multiple lipomatosis has been reported [26]. ...
Article
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Lipomas are the second most common benign, non-epithelial tumor of the gastrointestinal tract after leiomyoma. They can grow at all levels of digestive tract with a variable frequency. This involvement may be single or multiple in one or more segments. These lesions with a low development can rarely cause serious complications requiring prompt treatment. Therapeutic decision is guided by symptoms and tumor size. Conventional radiography with digestive opacification allows locating the tumor. On cross-sectional imaging, lipomas appear as homogeneous fatty tumors or rarely with internal fine septa. Computed tomography and magnetic resonance imaging allow the final diagnosis of lipomas in its uncomplicated forms.
Article
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Lipoma is the most common type of soft tissue tumour. Multiple lipomas localised in different areas of the body are rare and can occur in specific hereditary syndromes. Familial multiple lipomatosis is a rare benign hereditary syndrome with a proposed autosomal-dominant inheritance. We present the case of a 67-year-old man with this disease. Clinical features, genetic evidence, and treatment options are reviewed.
Article
Benign lipomatous lesions involving soft tissue are common musculoskeletal masses that are classified into nine distinct diagnoses: lipoma, lipomatosis, lipomatosis of nerve, lipoblastoma or lipoblastomatosis, angiolipoma, myolipoma of soft tissue, chondroid lipoma, spindle cell lipoma and pleomorphic lipoma, and hibernoma. Soft-tissue lipoma accounts for almost 50% of all soft-tissue tumors. Radiologic evaluation is diagnostic in up to 71% of cases. These lesions are identical to subcutaneous fat on computed tomographic (CT) and magnetic resonance (MR) images and may contain thin septa. Lipomatosis represents a diffuse overgrowth of mature fat affecting either subcutaneous tissue, muscle or nerve, and imaging is needed to evaluate lesion extent. Lipoblastoma is a tumor of immature fat occurring in young children, and imaging features may reveal a mixture of fat and nonadipose tissue. Angiolipoma, myolipoma, and chondroid lipoma are rare lipomatous lesions that are infrequently imaged. Spindle cell and pleomorphic lipoma appear as a subcutaneous lipomatous mass in the posterior neck or shoulder, with frequent nonadipose components. Hibernoma appears as a lipomatous mass with serpentine vascular elements. Benign lipomatous lesions affecting bone, joint, or tendon sheath include intraosseous lipoma, parosteal lipoma, liposclerosing myxofibrous tumor, discrete lipoma of joint or tendon sheath, and lipoma arborescens. Intraosseous and parosteal lipoma have a pathognomonic CT or MR appearance, with fat in the marrow space or on the bone surface, respectively. Liposclerosing myxofibrous tumor is a rare intermixed histologic lesion commonly located in the medullary canal of the intertrochanteric femur. Benign lipomatous lesions may occur focally in a joint or tendon sheath or with diffuse villonodular proliferation in the synovium (lipoma arborescens) and are diagnosed based on location and identification of fat. Understanding the spectrum of appearances of the various benign musculoskeletal lipomatous lesions improves radiologic assessment and is vital for optimal patient management.
Article
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Lipomas are among the most common tumors seen in the soft body parts and usually are solitary lesions. The authors report a case of a male patient that presented for evaluation of multiple subcutaneous nodules that caused important functional and cosmetic impairment. The diagnosis of familial multiple lipomatosis was made. Physicians should be able to recognize and characterize this rare disease.Os lipomas estão entre os tumores mais frequentemente observados nas partes moles do corpo, sendo geralmente lesões solitárias. Os autores relatam o caso de um paciente do sexo masculino que se apresentou para a avaliação de múltiplos nódulos subcutâneos que causavam um importante prejuízo funcional e estético. O diagnóstico final foi de lipomatose múltipla familiar. Os médicos devem ser capazes de reconhecer e caracterizar esta doença rara.
Article
An 80-year-old man presented with a 50-year history of asymptomatic, subcutaneous masses on the arms, trunk, and legs. His father and maternal grandmother had had similar lesions. Histopathologic examination showed a benign angiolipoma; the same diagnosis has been made on several previous biopsy specimens. This patient's history and physical examination support the diagnosis of familial angiolipomatosis, which is a benign, autosomal-dominant condition that may be regarded as a subtype of familial multiple lipomatosis (FML) or as a distinct entity. Management of this condition may include liposuction or surgery to reduce the tumor burden.
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Familial multiple lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance. The authors describe a family with multiple lipomatosis showing clear autosomal dominant inheritance, and no mutations within the NF1, SPRED1 or Cowden disease (PTEN) genes. Familial autosomal dominant lipomatosis is a rare but distinct entity.
Article
Familial Multiple Lipomatosis (FML) is a mainly autosomal dominant rare benign condition. Excessive fat storage (obesity), as well as the inability to store fat (lipodystrophy), is associated with insulin resistance. Our study aimed to document if also patients affected by regional excess of subcutaneous adipose tissue as in FML show this feature. Metabolic studies were performed in four brothers. A standard 75 g oral glucose tolerance test (OGTT) was submitted to each patient, with blood sampling at 0, 30, 60, 90, 120 and 180 min. Insulin sensitivity was calculated from the OGTT as the oral glucose insulin sensitivity index (OGIS), using the 2-h OGIS equation. Eight obese, non-diabetic subjects matched for BMI, age and sex, were used as controls. All the patients revealed a normal glucose tolerance and a normal HBA1c. Isolated subcutaneous fat accumulation is not necessarily associated with insulin resistance, on the contrary it may even allow a relatively high degree of insulin sensitivity.
Article
Los lipomas son los tumores benignos más frecuentes de los tejidos blandos; su desarrollo puede estar ligado a anomalías cromosómicas. Suelen ser solitarios, a veces múltiples. Cuando son muy numerosos, se habla de lipomatosis. Las lipomatosis pueden ser hereditarias, como la lipomatosis múltiple familiar y la lipomatosis mesosomática, o adquiridas, como la enfermedad de Launois-Bensaude, la enfermedad de Dercum y las lipomatosis iatrogénicas. Las lipodistrofias son síndromes que asocian alteraciones de la distribución del tejido adiposo y complicaciones metabólicas. Pueden ser congénitas o adquiridas, parciales o generalizadas. Las lipodistrofias congénitas incluyen el síndrome de Berardinelli-Seip, la lipodistrofia parcial familiar, la displasia acromandibular, la lipodistrofia ligada a Akt-PKB y los síndromes progeroides. Las lipodistrofias adquiridas incluyen el síndrome de Lawrence y el síndrome de Barraquer-Simmons, que a veces se asocian a enfermedades sistémicas, el síndrome metabólico y, sobre todo, la lipodistrofia del virus de la inmunodeficiencia humana, frecuente con antirretrovirales. La atrofia adiposa puede aparecer tras un proceso inflamatorio, en cuyo caso se habla de lipoatrofia, como la lipoatrofia semicircular de los muslos, la lipoatrofia centrífuga, la lipoatrofia pospaniculitis. Por último, las lipoatrofias pueden ser secundarias a fármacos.
Article
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.
Article
Patients with potential bone and soft tissue tumors can be challenging for orthopedic surgeons. Lesions that appear benign can still create anxiety for the clinician and patient. However, attention to a few key imaging and clinical findings is enough to correctly diagnose five of the most common bone and soft tissue lesions: lipoma, enchondroma, osteochondroma, nonossifying fibroma, and Paget disease. Accurate identification of these lesions should be within the scope of most orthopedic surgeons and, because most of these patients will not need surgical treatment, referral to orthopedic oncology will not typically be required. Copyright © 2015 Elsevier Inc. All rights reserved.
Article
Patients with syndromic causes of lipomatosis of the head and neck, although rare, often present late in the course of the disease in a myriad of ways, including concomitant airway obstruction, severe functional limitations, and/or significant cosmetic defects. The goal of this report was to review the literature and present a concise overview of the major syndromes causing lipomatosis of the head and neck. A literature search was performed to gather information on syndromic lipomatosis of the head and neck region. PubMed was searched for the following conditions: Familial multiple lipomatosis (FML), multiple symmetrical lipomatosis (MSL), congenital infiltrating lipomatosis of the face (CIL-F), and Nasopalpebral lipoma-coloboma syndrome (NLCS). Data gathered included results of surgical cases of the head and neck region. A total of 48 reports comprising 172 cases of syndromic lipomatosis of the head and neck region were deemed eligible for review. Eighty-five percent of patients were male with an average age of 35 years. Seventy-four percent of cases appeared in the neck region, whereas 23 % presented in the face and scalp. 89 % of cases were treated with surgical excision, with 11 % of cases treated with liposuction. The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. Because these conditions include frequent recurrence and subsequent difficulty in clearing the disease, the authors advocate early and aggressive surgical excision of syndromic lipomatosis. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
Article
Lipomas are the most common soft tissue tumors and are malignant in only 1% of cases. Lipomatosis is defined as the presence of multiple benign lipomas on the body, without lipoatrophy. Their impact on quality of life is significant. Different entities have been described such as symmetrical multiple lipomatosis (MSL), also called Madelung's disease and familial multiple lipomatosis (FML). MSL occurs preferentially in men (but also women) who are alcohol abuser. There are different subtypes of the disease, the most classic of which affects the upper body and the nuchal region with a buffalo hump appearance. A metabolic component with obesity is frequent. In contrast to Dercum's disease, there is no pain. SAOS, complications of the metabolic syndrome and of alcohol abuse including cancers, may be associated and should be screened. FML has been little described in the literature since Brodie's first report in 1846. FML occurs preferentially in the third decade but equally in women and men. Its autosomal dominant component is classically accepted with variable penetrance within the same family. Association with naevi, angiomas, polyneuropathies and with gastrointestinal comorbidities has been reported. Interestingly, and in contrast with most lipodystrophy disorders, the patients show an insulin sensitivity profile. A better understanding of the underlying pathophysiological mechanisms would open up avenues on therapeutic research, since treatments are only symptomatic to date.
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This paper presents the case of a patient who underwent surgery due to a large intrathoracic lipoma and had previously been diagnosed familial multiple lipomatosis. The occurrence of both diseases in one patient has not been reported yet. The data of several clinical syndromes of lipomatosis are reviewed, with special attention paid to familial multiple lipomatosis and multiple symmetric lipomatosis. The cause of these diseases is unknown. Lipoma is the most common benign human tumour, while intrathoracic lipoma occurs rarely. The diagnosis is usually established by CT and both the biopsy and the treatment are surgical. Surgery is performed when lipoma causes compression on surrounding structures or the reason is of cosmetic nature.
Article
Introduction: Lipomatosis is the excessive accumulation of subcutaneous adipose tissue mostly on the extremities, trunk and buttocks, and sometimes it coexists with systemic lipomas. Aetiopathogenetic theories include defect of brown adipose tissue, alterations in lipid metabolism, and hereditary factors, but alcoholism, neuropathies, and metabolic disorders have also been also underlined. Treatments of choice are excisional surgery, liposuction, and lipectomy, or lipolysis sometimes together with a reducing diet, and pharmacological therapy. Material and methods: There were 6 patients who underwent surgical treatment for multiple lipomas at the Department of Plastic Surgery, Medical University of Łódź in the years 1999-2008. We analysed aetiopathogenesis of the lipomatosis, coexistence of other anomalies, and methods of surgical management of the tumours. Results: Postoperative results in patients of the studied group were good. Conclusions: We confirmed neither the influence of aetiopathogenetic factors nor the coexistence of similar systemic disorders.
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We report on the patient with two Mendelian diseases – symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson’s disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson’s disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies. 4The present study is the description of an unusual association of two independent hereditary diseases of confirmed genetic origin - a combination that has not been described previously.
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La lipomatosis gástrica es una enfermedad infrecuente caracterizada por múltiples lesiones tumorales benignas (lipomas), que acorde a su tamaño pueden producir una variedad de síntomas. Por lo general, la enfermedad es documentada incidentalmente en estudios imagenológicos que se realizan para estudiar otras enfermedades y los hallazgos patológicos contribuyen a tener una certeza en el diagnóstico de esta patología. Por el momento, no hay un tratamiento definido para las masas pequeñas y asintomáticas, mientras que para las masas grandes (> 3-4 cm) o sintomáticas se sugiere la resección quirúrgica de las lesiones.
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Familial multiple lipomatosis (FML) is a rare entity. We report a family with this disease. Karyotypic analysis was performed on tissue isolated from excised lipomas and peripheral blood. No chromosomal abnormalities were found. This is the first report of karyotypic analysis of lipomas removed from a patient with FML. The finding of a normal karyotype is important because approximately 25% of spontaneous lipomas will have abnormal karyotypes; therefore, we felt there was a significant probability that familial lipomas in FML would have abnormal karyotypes.
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A 22-year-old man had polyneuropathy, facial dysmorphia, atopia and multiple lipomatosis. His mother had neuropathy but not lipomatosis as two of her first cousins. The proband's grandmother had multiple lipomatosis as her own mother and a sister of her mother, but they didn't have neuropathy. This family is an example of a dominant syndrome the principle features of which are polyneuropathy. Variable expression could account for the phenotypic differences, combined with multiple lipomatosis.
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A clinical study was made of 14 cases of multiple symmetrical lipomata in two families. There were 7 female and 7 male patients. In one family the members affected were observed in four generations. The disease set in during the third or fourth decade of life. The lipomata ranged in size from that of a pea to that of a hen's egg. They were limited to the forearms and trunk were asymptomatic.
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Multiple hereditary lipomatosis has been reported very rarely in the literature. The largest number of lipomas previously reported in a single patient was 160. We report on a 45-year-old man who began to experience multiple lipomas at about age 26. The lipomas multiplied until they severely disfigured his entire torso, arms, and upper legs. Both sides of his body were affected to approximately equal degrees. A family history revealed that the patient's father, two brothers, and two nephews have all experienced multiple subcutaneous lipomas, although to a lesser degree. In treating the patient, what appeared to be very large lipomas were in fact found to be subcutaneous clusters of hundreds of small encapsulated lipomas. Lipomas were excised using suction lipectomy to treat different involved areas on eleven separate occasions. A total of 8,475 cc was removed over a two-year period. A modified, slightly less blunt cannula was developed to aspirate the clustered lipomas individually.
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A family with familial combined hyperlipidaemia in which affected members had non-symmetric subcutaneous lipomatosis (NSSCL) is described. Affected members had high serum levels of total cholesterol, low density lipoprotein (LDL) cholesterol and high density lipoprotein (HDL) cholesterol. By contrast, family members without NSSCL had normal lipid levels. There was also a correlation between the degree of hyperlipidaemia and the amount of subcutaneous lipomas. The occurrence of hyperlipidacmia in family members with NSSCL suggests the existence of a genetic linkage between these two characteristics, but did not show any association with HLA haplotyping. To our knowledge this association between lipid abnormalities and NSSCL has not been previously reported.
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The finding of multiple lipomas, or lipomatosis, can be a marker for several clinical or familial syndromes. Familial multiple lipomatosis is a benign hereditary disorder of adipose regulation associated with hyperlipidemia. Multiple symmetric lipomatosis involves the local infiltration of adipose tissue of the neck, upper torso and mediastinum. This condition is often found in alcoholics and has been associated with diabetes mellitus. An afflicted patient's family history is important both to reveal occult pathology and to help determine the disease's prevalence in the population. In this article, we report the case of a patient with sporadic multiple lipomatosis and provide a brief review of the literature.