Madelung Disease

Hadjiev, Bojidar; Stefanova, P; Shipkov, Christo; Uchikov, A; Mojallal, Ali

doi:10.1097/sap.0b013e3181d9aa55

Cited by 14 publications

(2 citation statements)

References 6 publications

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“…Our current data on dominant male gender is consistent with most other studies. 40,41 These 13 patients were all sporadic cases without any family history of the disease, but these patients consumed alcohol heavily, similar to a previous report. 42 It is true that there are no studies connecting the role of alcohol in MSL pathogenesis, and stopping alcohol consumption did not reverse or prevent disease development, although other studies suggested that alcohol could be a key MSL promoter and delay ATLLM formation.…”

Section: Discussionsupporting

confidence: 86%

<p>Cbl Proto-Oncogene B (CBLB) c.197A>T Mutation Induces Mild Metabolic Dysfunction in Partial Type I Multiple Symmetric Lipomatosis (MSL)</p>

Chen

Wan

Zhao

et al. 2020

DMSO

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Background: Multiple symmetric lipomatosis (MSL) is a rare disease showing chronic progression of multiple, symmetrical, and non-encapsulated subcutaneous lipoma. The cause of the disease remains unknown. Patients and Methods: This study reported and summarized 13 sporadic cases of Type I MSL patients in terms of histopathology and cellular and molecular biology and assessed the CBLB c.197A>T mutation in the IRS1-PI3K-Akt pathway. Results: The clinical data showed that these 13 Type I patients were all male with a mean age of 57.0 ± 6.6 years old and consumed alcohol heavily. The laboratory tests revealed that most of the patients had hyperuricemia, diabetes, hyperinsulinemia, or insulin resistance; however, their blood lipid levels were close to a normal range. The imaging data exhibited lipomas that only occurred subcutaneously but not viscerally, ie, Types Ia (15.4%), Ib (30.8%), and Ic (53.8%). The molecular analyses of adipocytes of isoprenaline stimulated human adipose tissue-derived mesenchymal stromal cells (hADSCs) isolated from the adipose tissue lipoma-like masses (ATLLM) demonstrated that these adipocytes did not express UCP-1. The Cbl proto-oncogene B (CBLB), an E3 ubiquitin-protein ligase, was associated with insulin resistance and obesity and was mutated (ie, CBLB c.197A>T) in four MSL patients after the whole genome and Sanger sequencing of the blood samples. Furthermore, the CBLB c.197A>T mutation induced hADSC resistance to insulin by inactivation of the IRS-1-PI3K-AKT pathway. Conclusion: This study analyzed clinical, histopathological, and cellular and molecular biological characterizations of 13 Type I MSL patients and identified the CBLB c.197A>T heterozygous mutation that could be responsible for MSL metabolic dysfunction or even MSL development.

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Section: Discussionsupporting

confidence: 86%

<p>Cbl Proto-Oncogene B (CBLB) c.197A>T Mutation Induces Mild Metabolic Dysfunction in Partial Type I Multiple Symmetric Lipomatosis (MSL)</p>

Chen

Wan

Zhao

et al. 2020

DMSO

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“…Bệnh nhân MD đặc trưng có biểu hiện lắng đọng mô mỡ lan tỏa, đối xứng, không đau ở khoang nông dưới da và/hoặc khoang sâu ở cổ, vai, lưng và các chi gần, và là một bệnh lành tính [6]. Các báo cáo trước đây cho thấy bệnh thường gặp hơn ở nam giới Địa Trung Hải, và phổ biến hơn ở người trung niên (từ 30 -60 tuổi) với tỷ lệ nam: nữ từ 15 -30: 1 [7]. Dựa theo vị trí giải phẫu của mô mỡ, MD có thể được chia làm ba type.…”

Section: Bàn Luậnunclassified

Surgical treatment of huge lipoma of bilateral submandibular region spread down the neck in a patient with madelung’s disease: rare clinical case report

Nguyen Van,

Hoang Vu,

Vo Khac

2023

JMP

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Madelung disease (MD) is a disease of fat metabolism disorder that causes the formation of lipoma fatty tumors throughout the body. The disease mainly occurs in the Mediterranean population and is very rare in Asians, with a male: female ratio of 15 - 30:1, closely related to alcohol. The treatment of MD primarily is surgical resection of the tumor to management of cosmetic and functional issues. We report a rare clinical case of Madelung disease type I with bilateral submandibular lipoma tumor spreading down the neck affecting neck mobility and aesthetics, who was successfully operated at department of Maxillofacial Surgery, Hue University of Medicine and Pharmacy Hospital. Key words: madelung disease (MD), lipomas, surgical treatment.

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