Lipomatoses.

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

Differentiating lipedema and Dercum's disease.

BACKGROUND: People with lipedema or Dercum's disease (DD) can have a similar distribution of excess painful nodular subcutaneous adipose tissue (SAT), making them difficult to differentiate. METHODS: Case series of 94 patients with DD, 160 with lipedema and 18 with both diagnoses (Lip+DD) from a single clinic in an academic medical center to improve identification and differentiation of these disorders by comparison of clinical findings, prevalence of type 2 diabetes (DM2), hypermobility by the Beighton score and assessment of a marker of inflammation, Total complement activity (CH50). RESULTS: Differences between groups were by Student's t-test with α of 0.05. The Lipedema Group had significantly greater weight, body mass index (BMI), gynoid distributed nodular SAT and fibrotic and heavy tissue than the DD Group. Hypermobility was significantly higher in the Lipedema (58±0.5%) than DD Group (23±0.4%; P<0.0001). DM2 was significantly greater in the DD (16±0.2%; P=0.0007) than the Lipedema Group (6±0.2%). Average pain by an analog scale was significantly higher in the DD (6±2.5%) than the Lipedema Group (4±2.1%; P<0.0001). Fatigue and swelling were common in both groups. Easy bruising was more common in the Lipedema Group, whereas abdominal pain, shortness of breath, fibromyalgia, migraines and lipomas were more prevalent in the DD Group. The percentage of patients with elevated CH50 was significantly positive in both groups. CONCLUSIONS: The significantly lower prevalence of DM2 in people with lipedema compared with DD may be due to the greater amount of gynoid fat known to be protective against metabolic disorders. The high percentage of hypermobility in lipedema patients indicates that it may be a comorbid condition. The location of fat, high average daily pain, presence of lipomas and comorbid painful disorders in DD patients may help differentiate from lipedema.

Adiposis dolorosa.

We report a 46-year-old woman with a nine-year history of obesity; chronic diffuse pain in the adipose tissue of her medial upper arms, lower trunk, and thighs; multiple biopsy-proven lipomas and angiolipomas; and a lipomatous pseudomass of the breast. Her systemic symptoms included generalized weakness, fatigue, memory impairment, and arthralgias. Although some of the lesions were tender, most were only appreciated with palpation. Her clinical history and histopathologic data suggested adiposis dolorosa (Dercum's disease). Owing to the chronic pain, an interdisciplinary approach with the use of analgesics and doxycycline has been initiated.

An abnormal lymphatic phenotype is associated with subcutaneous adipose tissue deposits in Dercum's disease.

OBJECTIVE: Investigational, near-infrared fluorescence (NIRF) lymphatic imaging was used to assess lymphatic architecture and contractile function in participants diagnosed with Dercum's disease, a rare, poorly understood disorder characterized by painful lipomas in subcutaneous adipose tissues. METHODS: After informed consent and as part of an FDA-approved feasibility study to evaluate lymphatics in diseases in which their contribution has been implicated, three women diagnosed with Dercum's disease and four control subjects were imaged. Each participant received multiple intradermal and subcutaneous injections of indocyanine green (ICG, total dose ≤400 µg) in arms, legs, and/or trunk. Immediately after injection, ICG was taken up by the lymphatics and NIRF imaging was conducted. RESULTS: The lymphatics in the participants with Dercum's disease were intact and dilated, yet sluggishly propelled lymph when compared to control lymphatics. Palpation of regions containing fluorescent lymphatic pathways revealed tender, fibrotic, tubular structures within the subcutaneous adipose tissue that were associated with painful nodules, and, in some cases, masses of fluorescent tissue indicating that some lipomas may represent tertiary lymphoid tissues. CONCLUSIONS: These data support the hypothesis that Dercum's disease may be a lymphovascular disorder and suggest a possible association between abnormal adipose tissue deposition and abnormal lymphatic structure and function.

Adiposis dolorosa of scalp presenting with severe headache: an unusual case.

A 46-year-old female, known case of adiposis dolorosa since adolescence, noticed painful thickening of scalp in bilateral parieto-occipital areas and vertex 1 year back. Six weeks prior to the presentation to our service, she developed severe occipital headache refractory to drug treatment. She improved after bilateral greater occipital nerve blocks. She was subjected to bilateral greater occipital chemical neurolysis which has given her complete pain relief.

Dercum's disease: an unusual presentation.

Dercum's disease, also known as adiposis dolorosa, is a rare disease characterized by the accumulation of painful subcutaneous deposits of mature adult fatty tissue around the thighs, trunk, and upper arms and usually in a multifocal distribution. We are reporting an unusual presentation of Dercum's disease, presenting as a single painful, erythematous lesion around the left hip in a 71-year old postmenopausal woman. This report emphasizes the unusual presentation of adiposa dolorosa with a new modality for therapy. A summary of the major clinical associations, diagnostic challenges, and treatment modalities are also included in this manuscript.

Lipomatosis-associated inflammation and excess collagen may contribute to lower relative resting energy expenditure in women with adiposis dolorosa.

BACKGROUND: Adiposis dolorosa (AD) is a syndrome of obese and non-obese individuals whose hallmark is lipomatosis: unencapsulated painful fatty masses in subcutaneous fat. Lipomatosis may contain excess collagen and multi-nucleated giant (MNG) cells. Case reports suggest metabolic defects in AD. OBJECTIVES: (1) To determine whether women with AD have altered relative resting energy expenditure (REE per total body mass) compared with controls; and (2) to quantitate lipomatosis-associated collagen, MNGs and tissue and blood cytokines that may influence REE. METHODS: A total of 10 women with AD were compared with age, body mass index, fat and weight-matched control women. Adipose tissue was obtained from five women with AD and five controls and evaluated for collagen and macrophages/MNGs. Fat mass and fat-free mass were identified by dual X-ray absorptiometry. REE was by determined indirect calorimetry and related to mass. Adipokines and cytokines were evaluated in blood and tissue. RESULTS: Relative REE (REE per total body mass) was lower in women with AD compared with controls (P=0.007). Only lipomatosis (group) and total body mass were significant predictors of REE in forward stepwise regression (P<0.0001). Adipose interleukin (IL)-6 levels were elevated (P=0.03) and connective tissue was increased fourfold in lipomatosis compared with control tissue (P <0.0001). There was no difference in adipose tissue macrophages between groups; 30% of women with AD had MNG cells. Anti-inflammatory IL-13 levels were elevated (P=0.03), and cytokines important in the recruitment of monocytes, Fraktalkine (P=0.04) and macrophage inflammatory protein-1beta (P=0.009), were significantly lower in the blood of women with AD compared with controls. CONCLUSIONS: The lower relative REE in women with AD compared with controls was associated with increased connective (non-metabolic) tissue in the lipomatosis, and inflammation, although underlying metabolic defects may be important as well. Understanding the pathophysiology and metabolism of lipomatosis in AD may contribute to a better understanding of metabolism in non-lipomatosis obesity.

Dercum's disease (Lipomatosis dolorosa): successful therapy with pregabalin and manual lymphatic drainage and a current overview.

Dercum's disease which is also termed lipomatosis dolorosa is a rare and relatively unknown disease. In this entity the upper arms, elbows, stomach wall, buttocks, thighs and knees are predominantly affected showing painful subcutaneous adipose tissue deposits. In addition severe hyperalgesia can be triggered by light pressure and touch. Analgesic and/or nonsteroidal antirheumatic drugs have usually only a minor or no effect. Here, we report a patient with Dercum's disease who was successfully treated with pregabalin and manual lymphatic drainage, and present a current overview of the literature.

Treatment of pain in Dercum's disease with Lidoderm (lidocaine 5% patch): a case report.

INTRODUCTION: Dercum's disease is a rare disorder characterized by multiple painful subcutaneous lipomas on the trunk and extremities. It most commonly occurs in obese, postmenopausal women. The pain associated with this condition is postulated to arise from enlarging lipomas producing pressure on peripheral nerves, thereby initiating pain and sometimes paresthesias. Treatment has been challenging due to the rarity of this condition. CASE: A patient with Dercum's disease successfully treated with transdermal lidocaine 5% patches. The patient's pain was initially rated as an 8/10. At follow-up examination after 1 month, the patient rated her pain as 3/10--a >60% reduction in pain; this pain reduction persisted at subsequent 1-month follow-up intervals. CONCLUSION: Current therapeutic options in the treatment of Dercum's disease have proven either ineffective or cumbersome. The use of transdermal lidocaine is a safe and non-invasive treatment modality that has been efficacious in alternate forms. The use of this medication might prove preferable to more invasive or risky treatment and warrants further investigation.

[Dercum's disease: a severe complication in a rare disease. A case report]. / Maladie de Dercum: une complication grave au cours d'une maladie rare. A propos d'un cas.

Dercum's disease or adiposis dolorasa is unusual and unknown. Four symptoms are typical. It is characterized by painful subcutaneous fatty tumors in postmenopausal woman. We present this disease through the study of an uncommon clinical case: a sceptic choc following the "steato-cutaneous-necrosis" of a fatty tumor. The disease remains rare. The etiology is to this day unknown and different hypothesis (endocrinous, metabolic, genetics) are put forward. Multiple complications can occur but severe septicemia is rare. The treatment can be medical (loss of weight, corticoids, intravenous lidocaine) or surgical (surgical excision or liposuction).

Familial occurrence of adiposis dolorosa.

Adiposis dolorosa is a rare condition characterized by multiple painful lipomas. We describe two typically affected siblings who were found to have at least 5 affected first-degree relatives in two generations. Manifestations were remarkably variable, ranging from complete disability to solitary asymptomatic tumors. Review of histopathologic findings did not reveal any features that might distinguish the tumors from common sporadic lipomas. Mutational analysis excluded the 8344 A to G mitochondrial mutation seen in other patients with multiple lipomas. Adiposis dolorosa may be an extreme manifestation of the more common condition of familial multiple lipomas. Further work is needed to define the genetic basis of these conditions.

Adiposis dolorosa (Dercum's disease): 10-year follow-up.

Adiposis dolorosa is a disease characterized by painful, subcutaneous fatty tumors. This disorder usually occurs in obese, postmenopausal women and is associated with weakness and mental disturbances such as depression, confusion, lethargy, and dementia. The cause is unknown, and there is no specific treatment. Pain may be relieved by steroids, intravenous lidocaine, or analgesics. Surgical treatment consists of excision or liposuction of the painful masses. We present two cases of adiposis dolorosa in men, with a follow-up of more than 10 years.

Radiation-induced adiposis of the parotid gland.

Radiation-induced changes to the parotid gland may complicate later surgery for new or recurrent tumors of the area. Radiation commonly causes the replacement of parotid parenchyma by adipose cells as well as fibrosis and glandular atrophy. If the Mohs micrographic surgeon is not prepared for the gross and microscopic changes which may be present in the parotid gland, neighboring structures such as the facial nerve may be inadvertently encountered and tumor depth and extent may be poorly estimated. By discussing and illustrating this situation, we hope to make other surgeons aware of the difficulties which may be present after radiation to the parotid gland.