Analysis of Madelung disease based on sc-RNA sequencing: A case report and literature review

Ma, Xiaohua; Ma, Shaoping; Cai, Dechao; Wang, Changming; Yu, Haitao; Xie, Jian‐Wei; Cheng, Wendan

doi:10.1016/j.molimm.2023.04.005

Cited by 1 publication

(2 citation statements)

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“…A differential diagnosis should be made with: Cushing syndrome; partial familial Dunnigan lipodystrophies (determined by mutations in the LMNA gene); familial angiolipomatosis; simple obesity; neck cysts; lymphoma; leukemia and soft tissue sarcoma; spiradenocarcinoma; and salivary and thyroid gland disease, is necessary [37][38][39][40][41]45,46,50,51]. A biopsy can exclude malignancy or prove the concomitant presence of liposarcoma or an intramyxoid sarcoma [10,14,15,[52][53][54][55][56][57][58][59][60]. Liver disease is a common comorbidity of BSA, and acute renal failure may also occur [10,20,[24][25][26][27][28]50,51].…”

Section: Differential Diagnosis Comorbidities and Malignant Transform...mentioning

confidence: 99%

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Madelung’s Disease Evolving to Liposarcoma: An Uncommon Encounter

Lungu,

Oprea,

Stoleriu

et al. 2024

Life

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(1) Background: Madelung’s disease—known also as Benign Symmetric Adenolipomatosis (BSA) or Multiple Symmetric Lipomatosis (MSL), is a rare subcutaneous tissue disease characterized by the proliferation of non-encapsulated fat tissue with mature adipocytes. Patients develop symmetrical fatty deposits of varying sizes, (located particularly around the neck, shoulders, upper and middle back, arms, abdomen, and thighs), having clinical, esthetic, and psychiatric repercussions. (2) Methods: We report a case diagnosed with BSA upon admission to the Neurological and Internal Medicine Departments of the Emergency Clinical Hospital of Galati. (3) Results: This patient developed compressive phenomena and liposarcoma with liver metastasis, followed by death shortly after hospital presentation. The histopathology examination confirmed right latero-cervical liposarcoma and round cell hepatic metastasis. The specific metabolic ethiopathogenic mechanism has not been elucidated, but the adipocytes of BSA are different from normal cells in proliferation, hormonal regulation, and mitochondrial activity; a rare mitochondrial gene mutation, together with other interacting genetic or non-genetic factors, have been considered in recent studies. A thorough literature search identified only three cases reporting malignant tumors in BSA patients. (4) Conclusions: The goal of our paper is to present this rare case in the oncogenic synergism of two tumors. In the management of this BSA disorder, possible malignant transformation should be considered, although only scarce evidence was found supporting this.

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Section: Differential Diagnosis Comorbidities and Malignant Transform...mentioning

confidence: 99%

“…Growth hormone (GH) replacement must be considered only for those who are GH-deficient. Local injections with corticosteroid, thyroxine, enoxaparin, deoxycholate, and phosphatidylcholine have been suggested as a treatment for lipomatosis such as BSA [53][54][55][56][57][58].…”

Section: Therapy Of Bsamentioning

confidence: 99%