Presentation
To present a case of gastroduodenal lipomatosis associated with familial multiple lipomatosis (FML). [ncbi.nlm.nih.gov]
Angiolipomas are benign subcutaneous tumors that usually present on the arms, legs, and trunk in young men. Angiolipomas typically range in size from 1 to 4 cm in diameter, and multiple lesions often are present. [mdedge.com]
Madelung's disease, often presents in men who drink excess alcohol, who may present with the characteristic 'horse collar' cervical appearance. [patient.info]
Entire Body System
- Pain
Four patients described pain on pressure for 3 days after injection. No severe side effects or systemic reactions were observed. [ncbi.nlm.nih.gov]
Pain management may be offered to those patients who have advanced growths and resulting mobility issues. Patients should be made aware of online support groups for family members and patients with FML 5 Reply [dailyrounds.org]
In general, the lipomas are not painful unless irritated or traumatized regularly (1, 2, 10), although it has been reported that the lipomas were painful when growing but not after their size had stabilized (11-13). [lipomadoc.org]
Differential diagnosis of FML includes Dercum’s disease and Multiple Symmetric Lipomatosis (MSL, Madelung’s disease), lipomas of Dercum’s disease, not inherited, are very painful. [minervamedica.it]
- Swelling
It is characterized by multiple, soft-tissue swellings on hand, forearm, thigh, and abdomen. [scopemed.org]
The resulting swelling is referred to as a 'pseudo-lipoma'. [ 7 ] Liposarcoma Malignancy is rare but can be found in a lesion with the clinical appearance of a lipoma. [patient.info]
- Fatigue
I suffer with multiple lipoma's and now have numerous scars, my father has it, I suffer with pain, fatigue and deppression and not to mention the worry if anyone of these lumps could be a nasty one. [patient.info]
[…] individuals with FML and obesity showed the highest rates of desaturation, thus increasing the lipogenesis process.32,34 One unexpected finding was that patient A was the only within the casuistic and her family group to manifest pain, daily weakness, fatigue [dovepress.com]
- Epilepsy
The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. [neurology.org]
[…] have expanded the list of possible related diseases and complications. 15 There are only a few reports of familiar MSL cases that indicate a monogenetic cause that is inherited in an autosomal dominant manner. 17 A mitochondrial disorder, myoclonic epilepsy [journals.lww.com]
- Pathologist
Imaging of Soft Tissue Tumors will be of value in daily practice not only for radiologists but also for orthopedic surgeons, oncologists, and pathologists. [books.google.es]
Musculoskeletal
- Myopathy
Asthenia and mental disturbances are possible associated symptoms. 9 In Bannayan-Zonana syndrome the accumulation of fatty tissue is associated with development delay, hypotonia and lipid myopathy that are recognized during the first few years of life [scielo.br]
Hyperinsulinemia, neuropathy, and myopathy could not be found. However, patients were only interviewed about their comorbidities, without individual examination. Some comorbidities might not have been assessed. [journals.lww.com]
Skin
- Erythema
Erythema nodosum. Nodular subcutaneous fat necrosis. Weber-Christian panniculitis (recurring inflammation in the fat layer of the skin). Vasculitic nodules. Rheumatic nodules. Sarcoidosis. Infections - eg, onchocerciasis. Haematoma. [patient.info]
Neurologic
- Peripheral Neuropathy
Other conditions associated with Madelung disease include malignant tumors of the upper airways, hyperuricemia, obesity, renal tubular acidosis, peripheral neuropathy, and liver disease. [emedicine.medscape.com]
neuropathy 0009830 5%-29% of people have these symptoms Abnormal tricuspid valve morphology 0001702 Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Arachnoid cyst Fluid-filled sac located in membrane surrounding [rarediseases.info.nih.gov]
Peripheral neuropathy as the first manifestation of Madelung's disease. Br J Dermatol 2000 ; 143: 684, doi: 10.1111/j.1365-2133.2000.03757.x. Google Scholar | Crossref | Medline | ISI 27. Wu, CS, Wang, LF, Tsai, KB. [journals.sagepub.com]
Familial multiple symmetric lipomatosis with peripheral neuropathy. Neurology. 1990;40:1246–1250. 18. Jespersen NZ, Larsen TJ, Peijs L, et al. [journals.lww.com]
Workup
Serum
- Hyperuricemia
Other conditions associated with Madelung disease include malignant tumors of the upper airways, hyperuricemia, obesity, renal tubular acidosis, peripheral neuropathy, and liver disease. [emedicine.medscape.com]
An association with hyperinsulinemia, hyperlipoproteinemia, hypothyroidism, hyperuricemia, renal tubular acidosis, neuropathy, and myopathy has been described. 8–13 Neurological multisystem manifestation is common in these patients but cannot be solely [journals.lww.com]
- Hypercholesterolemia
In total, one can say that results of the blood analyses were normal, besides a hypercholesterolemia (Table 5). [journals.lww.com]
- Hyperinsulinemia
Hyperinsulinemia, neuropathy, and myopathy could not be found. However, patients were only interviewed about their comorbidities, without individual examination. Some comorbidities might not have been assessed. [journals.lww.com]
Treatment
Despite his initial critical condition and unsuccessful treatment with steroids, he responded to cyclosporin and remains well 15 years after diagnosis. [ncbi.nlm.nih.gov]
Management and treatment In some patients, treatment may not be required. [orpha.net]
Treatment and prognosis The main treatment consists of surgical excision of the lesions responsible for cosmetic and functional impairment. [radiopaedia.org]
Prognosis
Prognosis MSL is basically a benign condition but in some cases there may be serious physical, cosmetic and psychological repercussions. Associated disorders may affect the prognosis. [orpha.net]
Treatment and prognosis The main treatment consists of surgical excision of the lesions responsible for cosmetic and functional impairment. [radiopaedia.org]
Impact of disease free status on prognosis in metastatic non-small round cell soft tissue sarcomas. Clin Exp Metastasis. 2016 Dec;33(8):799-807. DOI: 10.1007/s10585-016-9820-z. [meidai-seikei.jp]
Etiology
Etiology The pathogenesis of MSL is not fully understood, but recent findings suggest that it may be related to defective noradrenergic regulation of mitochondria in brown fat. [orpha.net]
It could indicate that they do not segregate with FML phenotype, being discarded at least in this family as an etiological cause. [dovepress.com]
Epidemiology
In addition, imaging findings are correlated with clinical, epidemiologic, and histologic data. [books.google.es]
Summary Epidemiology MSL primarily affects men and has a sex ratio of 15:1 to 30:1, depending on the region.The disorder may occur in all ethnic groups.. [orpha.net]
Epidemiology [ 1 ] Lipomas may be seen in all age groups, but usually first appear between 40 and 60 years of age. Solitary lipomas are more common in women. Multiples - referred to as lipomatosis - are more common in men. [patient.info]
Without detailed epidemiological research, this number cannot be projected on a larger population and should be seen as a regional prevalence. [journals.lww.com]
Following previous studies, the present research shows some divergences regarding epidemiological data. [dovepress.com]
Pathophysiology
Haemophagocytic panniculitis is considered as a T-cell disorder, but its exact pathophysiological mechanism has not been clarified. [ncbi.nlm.nih.gov]
The pathophysiology of MSL still remains unclear, although several approaches have been described. [journals.lww.com]
Prevention
[…] all of you, I feel the doctors consultants just dont want to know, I have asked to be referred to a specialist to see which type I have, all I get in response is there is no point as you arnt going to know anymore than im telling you, and they cant be prevented [patient.info]
[…] is not yet known, but there are several theories of different causes:[5] Hormonal disorder due to the body's inability to properly metabolize fat Increase in fat cells (adipocytes) Enzymatic defect or a change in the surface of the cells that could prevent [en.wikipedia.org]
See my lipoma prevention supplement recommendations and please consider donating a small amount via PayPal (click the Donate button) to keep this site up and running. Thx! [lipomaboard.com]
Awareness of the autosomal-dominant form of this entity is important to prevent its misdiagnosis as neurofibromatosis type I, which has a similar family history and clinical presentation. [mdedge.com]