Lipomatoses.

Lipomatoses are benign proliferations of adipose tissue, often with typical distribution patterns, which usually occur without clear causes. In contrast to circumscribed lipomas, they develop diffusely and symmetrically and are not surrounded by a fibrous pseudocapsule. The most common form is benign symmetric lipomatosis (BSL; Launois-Bensaude syndrome), of which four types are distinguished based on the distribution pattern of hyperplastic adipose tissue. The etiology and pathogenesis of the disease are still largely unknown, although some forms appear to have a hereditary basis or to be associated with increased alcohol consumption. In some cases, mitochondrial dysfunctions have been detected. Lipomatoses may be solitary, but may also be associated with other symptoms or illnesses (comorbidity). Effective drug therapies are not known, but surgical procedures can alleviate the symptoms. Lipomatosis dolorosa, which can be distinguished from BSL, occurs predominantly in middle-aged women and is characterized by proliferation of adipose tissue and severe pain in the affected areas. Various differential diagnoses and concomitant illnesses need to be considered, in particular depression. There are no evidence-based recommendations for therapy. Repetitive lidocaine infusions can achieve temporary improvement. Recurrence after surgical intervention is not uncommon, but long-term success is also possible.

Spinal angiolipoma: etiology, imaging findings, classification, treatment, and prognosis.

PURPOSE: To summarise our experience treating patients with spinal angiolipomas (SAs) and to evaluate factors relating to its prognosis. METHODS: We retrospectively reviewed the records of patients diagnosed with SAs who received surgical treatment from January 2001 to February 2013. RESULTS: Twenty-one patients were described. We divide SAs into two types: "intraspinal" and "dumbbell-shaped". The former were further subclassified as "with lipomatosis" and "without lipomatosis". Overweight people are more likely to get the "with lipomatosis" type which needs different surgical strategy and/or a diet therapy to get better outcomes. CONCLUSION: Diagnosis of SAs should be made with reference to clinical, radiological, and pathological findings. Application of different methods is needed to treat SAs.

How to diagnose a lipodystrophy syndrome.

The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement. Gene mutations encoding for PPAR-gamma, Akt2, CIDEC, perilipin and the ZMPSTE 24 enzyme are much more rare. The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications. Glycosylation disorders are sometimes involved. Some genetically determined forms have recently been found to be due to autoinflammatory syndromes linked to a proteasome anomaly (PSMB8). They result in a lipodystrophy syndrome that occurs secondarily with fever, dermatosis and panniculitis. Then there are forms that are considered to be acquired. They may be iatrogenic (protease inhibitors in HIV patients, glucocorticosteroids, insulin, graft-versus-host disease, etc.), related to an immune system disease (sequelae of dermatopolymyositis, autoimmune polyendocrine syndromes, particularly associated with type 1 diabetes, Barraquer-Simons and Lawrence syndromes), which are promoted by anomalies of the complement system. Finally, lipomatosis is currently classified as a painful form (adiposis dolorosa or Dercum's disease) or benign symmetric multiple form, also known as Launois-Bensaude syndrome or Madelung's disease, which are sometimes related to mitochondrial DNA mutations, but are usually promoted by alcohol. In addition to the medical management of metabolic syndrome and the sometimes surgical treatment of lipodystrophy, recombinant leptin provides hope for genetically determined lipodystrophy syndromes, whereas modifications in antiretroviral treatment and tesamorelin, a GHRH analog, is effective in the metabolic syndrome of HIV patients. Other therapeutic options will undoubtedly be developed, dependent on pathophysiological advances, which today tend to classify genetically determined lipodystrophy as being related to laminopathy or to lipid droplet disorders.

Lipedematous diseases of the scalp are not separate entities but part of a spectrum of lipomatous lesions.

BACKGROUND: Lipedematous lesions of the scalp share a wide range of morphologic criteria with classical lipomatosis. In the past decade, lipedematous scalp and lipedematous alopecia have been described as pathomorphologically related diseases of the scalp, but many clinicians and dermatopathologists disagree with this assessment. Morphologic and pathogenetic concepts remain unclear and raise the concern that a plethora of terms are being used to describe and distinguish phenotypical variations of an identical theme. PATIENT AND METHODS: Here, we report a 15-year-old male Turkish child with what we could consider, according to the currently accepted classifications, lipedematous scalp without associated alopecia. RESULTS: The principal aim of this manuscript is to critically reappraise the current literature on lipomatous lesions and focus on morphologic features in order to reestablish five crucial diagnostic criteria. CONCLUSIONS: Due to the possibility of excluding therapeutic elements by separating the lipomatous lesions into various entities, we propose using the term "localized lipomatosis of the scalp with or without associated alopecia" in order to arrive at a straightforward diagnosis, thereby avoiding numerous partially synonymous terms; moreover, we do not intend to expand the spectrum of distinct lipomatous entities, but propose classification of these diseases within the group of conventional lipomatosis.

Adipose lesions of nerve: the need for a modified classification.

OBJECT: Adipose lesions of nerve are rare and poorly understood. Their current classification, although not universally accepted, generally includes lipomatosis of nerve with or without localized macrodactyly, and intra- as well as extraneural lipoma. The authors believe that the spectrum of these lesions and their interrelationships are not currently appreciated. They propose an adaptation to the existing framework to illustrate the expanding spectrum of adipose lesions of nerve by considering lipomatosis and lipoma singly or in combination. METHODS: Fourteen representative cases are presented to demonstrate not only the intraneural and extraneural examples of lipomatosis and lipoma, but also their anatomical combinations. RESULTS: Based on the cases presented and a careful literature review, a conceptual approach to the classification of adipose lesions of nerve is generated. This approach incorporates the 2 essential lesions, lipomatosis of nerve and lipoma, in both their intra- and extraneural forms. This permits expansion to encompass combinations. CONCLUSIONS: To press the concept that adipose tumors of nerve are a broad but interrelated spectrum of lesions, the authors propose modification of the present classification system. This approach provides an orderly platform for progress, reflects understanding of these interrelated lesions, and facilitates optimal treatment by distinguishing resectable from nonresectable components.

Congenital spinal lipomatous malformations: part I--Classification.

BACKGROUND: Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. METHODS: On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis FINDINGS: Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. CONCLUSIONS: Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.

Unusual distribution of the lower body fatty tissue: classification, treatment, and differential diagnosis.

Unusual fat distribution of the lower part of the body is clinically characterized by massive symmetric and diffuse fat deposition in the trochanters, groins, buttocks, hips, and lower extremities, which contrasts sharply with the normal upper part of the body. The massive lipomatoses of the lower part of the body can be classified into 3 types: type 1, the familial symmetrical lipomatosis that affects the groins, trochanters, hips, buttocks, and thighs; type 2, the bilateral peritrochanteric familial lipomatoses; and type 3, the unilateral peritrochanteric lipomatosis. This unusual adiposity runs in families and predominantly exists in the Mediterranean region, and seems, however, to be common in North Africa. It is rarely reported in the literature. In this regard, a differential diagnosis is presented regarding the lipomatosis and lipodystrophies-described syndromes to familiarize plastic surgeons with these unique deformities. Between 2000 and 2006, 50 women with abnormal diffuse fat deposits in the lower part of the body were investigated and treated with conventional liposuction; patients' ages ranged between 20 to 46 years. Laboratory examination includes the serum concentrations of lipoprotein, cholesterol, triglycerides, uric acid, fasting glucose, and other routine laboratory tests. Endocrinologic tests include serum estradiol and testosterone levels, and thyroid function tests. Histologic examination of the lipoaspirate was performed. All cases were treated with liposuction. For type 1 cases liposuction was performed in stages; the maximum amount of lipoaspirate per setting was 3,000 to 4,000 mL, and for type 2 and type 3 a single stage liposuction was undertaken. Laboratory examination showed normal values and routine parameters were within normal limits. Endocrinologic investigations revealed no abnormalities and histologic examination of lipoaspirate showed normal subcutaneous fatty tissue. The esthetic outcome of all individuals was satisfactory. Abnormal swelling of the lower half of the female body caused by deposition of subcutaneous fat is determined by heredity and seems to be common in North Africa. It is often accompanied by a psychological reaction due to the disturbed body image. A clinical classification is reported in the current study. The traditional liposuction is the treatment of choice for these esthetic deformities.

Is spinal epidural lipomatosis an MRI-based diagnosis with clinical implications? A retrospective analysis.

OBJECTIVES: Magnetic resonance imaging (MRI) is considered the most sensitive modality for evaluating spinal epidural lipomatosis (SEL) in vivo. The aim of this study was to compare the existing MRI classifications of SEL and to reevaluate the clinico-radiological correlation of SEL as a pathological entity. MATERIALS AND METHODS: Measurements of the cervical, thoracic and lumbar spine were performed in a retrospective setting within 1406 data sets from the digital MRI archives. RESULTS: It could be shown that the existing MRI classifications developed for different spinal regions complemented each other. However, there was no distinct correlation of these MRI findings with clinical symptoms because other morphological changes existed that probably caused the patients' complaints. CONCLUSION: Existing SEL classifications developed either for the lumbar or the thoracic spine were found to be applicable to both regions, but the very vague association with clinical symptoms should caution against premature conclusions with respect to the clinical significance of SEL.

Familial multiple lipomatosis: report of a new family.

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.

Lipoma y Lipomatosis / Lipoma and Lipomatosis

Los lipomas son tumores benignos compuestos por células grasas. Ellos son los tumores mesenquimales más comunes. Se encuentran en el tejido subcutáneo y menos frecuente en órganos internos. Usualmente presentan poca dificultad de diagnóstico y morbilidad. Los lipomas típicamente se desarrollan como masas elásticas discretas en el tejido subcutáneo y tejidos blandos profundos en el adulto. Muchos signos cutáneos y algunos síndromes son anatómicamente muy complejos y pueden estar asociados con un lipoma subyacente. Recientemente un número de nuevas entidades y variantes han sido descriptas. Su reconocimiento es importante para evitar el diagnósitco fallido y terapias inapropiadas. Lipoma condroide, miolipoma y lipoma pleomórfico de células ahusadas puramente cutáneo, son neoplasias biológicamente benignas que pueden simular sarcomas morfológicamente. El advenimiento de las investigaciones moleculares y citogenéticas de las neoplasias lipomatosas tienden a contribuir más al entendimiento de la biología de aquéllas y guiar a la modificación de los esquemas de clasificación convencional.

Lipomas are benign tumors componed of mature fat cells. They are the most common benign mesenchymal tumor. Lipomas are found in the subcutaneous tissues and, less commonly, in internal organs. They usually present with little difficulty in diagnosis or morbidity. Lipomas typically develop as discrete rubbery masses in the subcutaneous tissues of the trunk and proximal extremity. Are the most common neoplasms of subcutaneous and deep soft tissues in adults. Most cutaneous signatures and someone syndromes are anatomically more complex and can associated with an underlying lipoma. In recent years a number of "new" entities and variants have been described. Their recognition is important to avoid diagnostic pitfalls and inappropriare therapy. Chondroid lipoma, myolipoma, and purely cutaneous spindle-cell/pleomorphic lipoma are biologically benign neoplasms which may mimic sarcomas morphologically. The advent of cytogenetic and molecular investigations of lipomatous neoplasms has contributed to a better understanding of the biology of these neoplasms and led to a modification of conventional classification schemes.

Colonic pseudolipomatosis, microscopically classified into two groups.

BACKGROUND: Colonic pseudolipomatosis is rare and the pathogenesis is controversial. The purpose of the present paper was to clarify endoscopic and histological characteristics of colonic pseudolipomatosis and to discuss the etiology. METHODS: A total of 15 lesions from 14 patients was reviewed. They were able to be histologically classified into two groups on the basis of variety in size of the vacuoles: Group A, the ratio of largest vacuole to smallest vacuole in size is less than three, Group B, the ratio is more than four. RESULTS: Four of 15 lesions were group A, and were endoscopically polypoid or flat lesions covered with normal-looking mucosa. They were microscopically characterized by (i) predominant location in the upper portion of the lamina propria; (ii) no submucosal involvement; (iii) less variation in vacuolar size; and (iv) no association with lymph follicles. The vacuoles of group A contained proteinaceous materials in two of four lesions. Group B (11 lesions) had small elevated mucosa with normal-looking surface or non-elevated reddish mucosa. Microscopically, the lesions were mainly located in the lower portion of the lamina propria, occasionally also in the submucosa, had variable-sized vacuoles, and were related to lymph follicles. CONCLUSION: It is suggested that the vacuoles in group A contain fluid, and may indicate an abnormal stagnation of interstitial fluid. Microscopic appearance of group B is essentially similar to that of pneumatosis coli. It is thought that group B probably results from penetration of gas from the crypts into the mucosa during colonoscopy. It is unclear why group B had a preference for ileocecal valve and an association with lymph follicles.

Classification of benign fatty tumours of the upper limb.

In this paper, the authors offer a classification of benign fatty tumours of the upper limb. There are three histologically distinct types of fat cells: immature fat cells which give rise to lipoblastomas, mature brown fat cells which give rise to hibernomas and mature white fat cells which give rise to lipomas. Lipomas are the most common and they are sub-classified according to the anatomic site of fat cells into dermal, subcutaneous and sub-fascial lipomas; or tumours directly related to muscle, bone, synovium or nerve. Finally, the authors review 67 patients with benign fatty tumours of the upper limb and provide clinical examples of these tumours including their characteristic histological and radiological features.

Medulloblastoma with lipidized cells versus lipomatous medulloblastoma.

BACKGROUND: Lipomatous medulloblastoma is a recently identified clinicopathological entity, characterized by areas of lipomatous differentiation, manifestation in adults, and apparently by a favorable prognosis. MATERIAL AND METHODS: In our series of medulloblastomas of adults and children we have found lipidized cells within the tumor in 6 out of 78 cases of adults and in 8 out of 44 cases of children. In 3 adult cases and 3 children cases, lipidized cells were particularly numerous and clustered. RESULTS: Neuronal differentiation was found in 4/6 cases; no case showed GFAP-positive tumor cells. Lipidized cells were constantly immunopositive for vimentin and some of them also for KP-1 and CR3/43. The proliferation potential was evaluated by the immunohistochemical demonstration of MIB-1; MIB-1-labeling index (LI) ranged from 20.8% to 40.5%. No case survived longer than 7 years after diagnosis and postoperative radiotherapy. CONCLUSION: The present 6 cases of heavily lipidized medulloblastoma are not uniform as for age of occurrence, proliferation potential and survival. They do not share the clinical and pathologic features of "lipomatous medulloblastoma". Therefore, the finding of large numbers of lipidized cells in a medulloblastoma does not authorize to diagnose the tumor as "lipomatous medulloblastoma", for which a favorable clinical prognosis is foreseen.

[Lipoma, multiple lipomas and lipomatosis]. / Lipomes, lipomes multiples et lipomatoses.

Lipomatous tumors are very frequent; simple lipoma is the most common variety. According to Enzinger, lipomatous tumors are classified into five different groups: simple lipomas, variant lipomas forms, heterotopic lipomas, infiltrating lipomas and lipomatosis, and finally hibernomas. Usually, lipomatous tumors are characterized by a slow, unpainful, growth. Classical treatment includes surgical resection. The clinical diagnosis is confirmed by histology. Liposucion can be a therapeutic option in certain cases.

Lipomatosis extradural idiopática: a propósito de un caso / Idiopatic extradural lipomatosis

La lipomatosis extradural, es una rara entidad que se caracteriza por la proliferación de tejido adiposo epidural. Habitualmente se desarrolla como consecuencia de la administración prolongada de corticoides. Reportamos el caso de un paciente con lipomatosis extradural que se presenta como complicación de su obesidad. La TC y la RM permiten evidenciar con claridad el sitio, extensión y características de esta patología

Lipomatosis extradural idiopática: a propósito de un caso / Idiopatic extradural lipomatosis

La lipomatosis extradural, es una rara entidad que se caracteriza por la proliferación de tejido adiposo epidural. Habitualmente se desarrolla como consecuencia de la administración prolongada de corticoides. Reportamos el caso de un paciente con lipomatosis extradural que se presenta como complicación de su obesidad. La TC y la RM permiten evidenciar con claridad el sitio, extensión y características de esta patología

Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations.

We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular (hemangioma, lymphangioma), skeletal (osteoma, exostosis, localized hypertrophy), and neurological (hydrocephaly, lissencephaly, partial agenesis of the corpus callosum) developmental defects associated with the Proteus syndrome and related hamartoneoplastic conditions. We compared our findings in these three patients with those of 50 others with Proteus syndrome and nine with encephalocraniocutaneous lipomatosis (ECCL) reported in the literature. We found that Proteus syndrome and ECCL have distinct identities even though some clinical manifestations are shared by both and a few patients have manifestations of both conditions.

Lipomatosis: a propósito de nuestras observaciones / Lipomatosis: for the purpose our observations

Los lipomas son tumores únicos o múltiples, desarrollados a partir del tejido adiposo. En sus formas múltiples constituyen las "lipomatosis", dando origen a cuadros clínicos raros y complejos. Se reconocen los siguientes cuadros: 1) Enfermedad de Dercum, afecta fundamentalmente a mujeres perimenopáusicas obesas, con disendocrinias, presentando tumores dolorosos en tronco y miembros; 2) Adenolipomatosis o Enfermedad de Launois-Bensaude, con afectación de hombres, disponiéndose en cuello, ingle y axilas, remedando adenopatías, 3) Lipomatosis mesosomática de Roch-Lery, con compromiso exclusivo de tronco y 4) Enfermedad de Touraine-Renault, disponiéndose en forma segmentaria o zoniforme

Lipomatosis: a propósito de nuestras observaciones / Lipomatosis: for the purpose our observations

Los lipomas son tumores únicos o múltiples, desarrollados a partir del tejido adiposo. En sus formas múltiples constituyen las "lipomatosis", dando origen a cuadros clínicos raros y complejos. Se reconocen los siguientes cuadros: 1) Enfermedad de Dercum, afecta fundamentalmente a mujeres perimenopáusicas obesas, con disendocrinias, presentando tumores dolorosos en tronco y miembros; 2) Adenolipomatosis o Enfermedad de Launois-Bensaude, con afectación de hombres, disponiéndose en cuello, ingle y axilas, remedando adenopatías, 3) Lipomatosis mesosomática de Roch-Lery, con compromiso exclusivo de tronco y 4) Enfermedad de Touraine-Renault, disponiéndose en forma segmentaria o zoniforme