Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis.

The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNALys -coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs.

Multiple symmetric lipomatosis and gynecomastia: A case report and relative literature review.

Multiple symmetric lipomatosis is a rare disease characterized by a symmetrical accumulation of massive adipose tissue on the neck, the superior part of the trunk, and limbs. Here, we reported an extremely rare case of multiple symmetric lipomatosis in a 46-year-old Chinese man, who has a history of heavy drinking and smoking and presented with diffuse lipomatosis and bilateral breast enlargement. Hyperuricemia and impaired glucose tolerance test were all found in this patient. A brief review of the literature was also made in this article.

Adipose-Derived Stromal Cells from Lipomas: Isolation, Characterisation and Review of the Literature.

OBJECTIVE: The aim of this study was to characterize adipose-derived stromal cells (ADSCs) from patients diagnosed with multiple symmetric lipomatosis (MSL) in order to obtain potentially new insights into the pathophysiology, pathogenesis and treatment of this disease. METHODS: Cells from the stromal vascular fraction were analysed by the colony-forming efficiency assay and flow cytometry using standard markers. Moreover, the power of adipogenic plasticity was evaluated. Finally, a literature review was performed from 1982 to 2015 using the US National Institutes of Health's PubMed database. RESULTS: Three European-descent patients diagnosed with either MSL type I or II could be identified for analysis. The resulting mean colony-forming efficiency assay was 14.3 ± 5%. Flow-cytometric analysis of the ADSCs revealed high levels of CD34 (70 ± 9%), CD45 (37 ± 13%) and CD73 (55.8 ± 14%), whereas low levels of CD31 (16.8 ± 14%) and CD105 (5.8 ± 0.7%) were detected. Furthermore, ADSCs showed a strong adipogenic potential, which is in line with the literature review. The stem cell pool in lipoma shows several alterations in biological activities, such as proliferation, apoptosis and stemness. CONCLUSIONS: ADSCs from lipoma may be interesting in the application of regenerative medicine. We discuss possible molecular treatment options to regulate their activities at the source of the MSL.

Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells.

BACKGROUND: The cause of the rare fat distribution disorder multiple symmetric lipomatosis is unknown. Independent reports suggest a higher proliferative activity, hormone resistance, and involvement of mitochondrial function in the disease. METHODS: The authors performed morphologic comparison of affected and unaffected tissues in five unrelated patients and generated adipose-derived stem cell cultures from the tissue samples and characterized them as a possible cellular model of multiple symmetric lipomatosis evolution. The authors investigated proliferative activity and the expression of genes relevant to disease processes. RESULTS: There was no difference in the morphologic appearance and the surface marker profile. Stem cells from lipomatous tissue showed significantly higher proliferative activity. Polymerase chain reaction arrays showed marked changes in genes associated with proliferation, hormonal regulation, and mitochondria. The authors show that multiple symmetric lipomatosis tissue is morphologically and histologically different from regular subcutaneous fat. CONCLUSIONS: This study indicates an involvement of mesenchymal stem cells in the pathogenesis of multiple symmetric lipomatosis and that the evolution of multiple symmetric lipomatosis tissue is a process driven by an inherent defect of the respective cell clone(s). Further molecular genetics and functional analysis will be required to unravel the pathogenetic mechanism underlying the derailment in fat cell metabolism and proliferation. Here, the authors show for the first time that adipose-derived stem cells exhibit many characteristics previously described for native multiple symmetric lipomatosis fat tissue and propose that they are therefore an excellent tool for further functional investigations in multiple symmetric lipomatosis and other disorders of the fat tissue. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, V.

Insulin sensitivity in Familial Multiple Lipomatosis.

BACKGROUND: 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. AIM: Our study aimed to document if also patients affected by regional excess of subcutaneous adipose tissue as in FML show this feature. PATIENTS AND METHODS: 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. RESULTS: All the patients revealed a normal glucose tolerance and a normal HBA1c. CONCLUSIONS: 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.

Impaired gonadal function in a woman with multiple symmetric lipomatosis.

Multiple symmetric lipomatosis (MSL, OMIM 151800), is a rare disease characterised by the growth of uncapsulated masses of abnormal adipose tissue around the neck, shoulders or other parts of the trunk and typically associated with high ethanol intake. We describe the case of a 33 year-old woman with MSL and secondary amenorrhea. Despite the presence of an ovarian failure confirmed by undetectable serum levels of inhibin B and anti-Müllerian hormone, the patient had normal serum levels of estrone and gonadotropins coexisting with a biological adrenal hyperandrogenism. We suggest that the adrenal hyperandrogenism observed in our patient could be attributed to an impairment of the cytochrome p450 function, inducing a relative 21-hydroxylase deficiency/insufficiency, related to alcohol abuse and that the increased peripheral aromatization of androgens in estrogens lead to normal circulating levels of estrone. The result is the absence of gonadotropin elevation despite primary ovarian failure. The peculiar functional pattern of brown adipocytes in patients with MSL may contribute to this biological phenomenon with an additive effect related to alcohol consumption. Altogether, these data could help to better define the peculiar pituitary-gonadal profile observed in this rare syndrome and in some cases of women with heavy alcohol consumption.

Lipoma cervical gigante: a propósito de un caso / Giant cervical lipoma: a case report

Los lipomas son los tumores mesenquimales más frecuentes. La aparición de lipomas gigantes a nivel cervical es infrecuente. Es necesaria la realización de pruebas de imagen para una correcta localización anatómica y establecer relaciones con las estructuras vecinas. El tratamiento de elección es la escisión quirúrgica de la masa. Presentamos el caso de un varón de 59 años que presenta una tumoración gigante cervical de 10 años de evolución. La planificación prequirúrgica en este tipo de casos debe ser exquisita para garantizar la conservación tanto de la función como de la estética cervicofacial(AU)

Lipomas are the most common mesenchymal tumors, although giant lipomas of the neck region are uncommon. Imaging is needed to correctly identify the anatomic location of the tumor and its relation to surrounding structures. Surgical excision is the treatment of choice. The case of a 59-year-old man with a giant neck tumor of 10 years evolution is reviewed. Meticulous preoperative planning is required in these cases to ensure a cosmetically and functionally acceptable cervicofacial outcome(AU)

Enfermedad de Madelung / Madelung's disease

La enfermedad de Madelung o lipomatosis simétrica múltiple es una enfermedad rara caracterizada por la presencia de masas de tejido adiposo, distribuidas de forma simétrica en cuello, nuca, tronco, hombros y parte proximal de los miembros. Afecta fundamentalmente a hombres entre los 30 y 60 años con historia de etilismo crónico, siendo la resección quirúrgica el único tratamiento efectivo (AU)

Madelung's disease or Benign Symmetric Lipomatosis is a rare disease characterised by masses of adipose tissue spread symmetrically along the neck, trunk, shoulders and upper arms. It affects men from 30 to 60 years old with a previous history of alcoholism. Surgery is the only effective treatment (AU)

Patient with Madelung syndrome and difficult-to-treat airway

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Tratamiento de la vía aérea en un caso de enfermedad de Madelung o lipomatosis cervical / Airway treatment management in a case of Madelung disease or cervical lipomatosis

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Lipomatose simétrica benigna: doença de Madelung: relato de caso / Benign symmetric lipomatosis: Madelung's disease: case report

JUSTIFICATIVA E OBJETIVOS: A lipomatose simétrica benigna (LSB) foi descrita inicialmente por Madelung em 1888 e possui patogênese ainda desconhecida. É caracterizada por múltiplos depósitos de gordura indolor não encapsulado com disposição simétrica, localizados preferencialmente na região cervical e tronco superior, podendo causar sintomas compressivos e aparência pseudoatlética. O tratamento cirúrgico é o mais efetivo, por ressecção ou por lipossucção. O objetivo deste relato foi apresentar a importância do caso descrito, devido à sua exuberância clínica, apesar de assintomática e sem alterações significativas laboratoriais.RELATO DO CASO: Paciente do sexo masculino, 77 anos, agricultor, natural de Pernambuco. Relatou que há oito meses apresentava crescimento progressivo de massa indolor na região cervical, occipital e superior do tórax, negando outros sintomas que pudessem acompanhar o crescimento e sem história familiar. Hipertenso, etilista e tabagista. Ao exame constatou-se massa volumosa simétrica cervical fibroelástica, na região cervical, não aderida a planos profundos e sem sinais flogísticos.CONCLUSÃO: A LSB foi classificada por Enzi e col. em dois tipos, o paciente em questão foi classificado como tipo I, lipoma predominantemente cervical. A ingesta de álcool consumida pelo paciente tem forte associação com a etiologia da doença de acordo com Enzi e col. Foi realizada lipectomia, com abordagem em dois tempos cirúrgicos devido a invasão de estruturas nobres. O paciente evoluiu bem clinicamente, sem complicações, com bom resultado estético. O presente caso apresentava uma exuberância clínica não condizente com os parâmetros laboratoriais e sintomatologia descrita na literatura.(AU)

BACKGROUND AND OBJECTIVES: Benign symmetric lipomatosis (BSL) was first described by Madelung in 1888 and still has unknown pathogenesis. It is characterized by multiple unencapsulated painless fat deposits with symmetrical disposition, preferably located in the cervical region and upper trunk and may cause compressive symptoms and pseudoathletic appearance. Surgical treatment is most effective, and it could be done by resection or liposuction. The objective of this study was to present the importance to describe the case due to your clinical exuberance without symptoms or significant changes in laboratory tests.CASE REPORT: Male patient, 77 years old, farmer, born in Pernambuco. Reported that 8 months ago began progressive growth of a painless mass in the cervical region, occipital region and upper chest, with no family history. He has high blood pressure, alcoholic and smoker. On examination, it could be noticed a large fibroelastic symmetric mass, asymptomatic, in the cervical region, not adhered to deep planes and with no signs of inflammation.CONCLUSION: The benign symmetric lipomatosis was rated by Enzi et al. in two types, the patient in this case was classified as type I, predominantly cervical lymphoma. The intake of alcohol consumed by the patient is strongly associated with the etiology of this disease, according to Enzi et al. The patient underwent a lipectomy with a two steps approach due to surgical invasion of vital structures. The patient was stable clinically, without complications, with good aesthetic results. The clinical case described had an exuberance of clinical manifestations, not consistent with laboratory parameters and symptoms described in the literature.(AU)