Exophytic Adiposis Dolorosa (Dercum’s Disease) of the Thigh: A Case Report Adiposis dolorosa or Dercum’s disease is a rare lipomatous disorder characterized by painful lipomas. In this article, we report a case of rather large exophytic adiposis dolorosa causing difficulties with ambulation, and our surgical management of the disorder. To our knowledge, this is the first reported case of a large exophytic adiposis dolorosa of the upper medial thigh causing problems with mobility. This is also the first reported case of the use of a delayed split-thickness skin graft (STSG) after interval use of wound vacuum-assisted closure (VAC) following dermolipectomy. Full text: https://www.cureus.com/articles/26597-exophytic-adiposis-dolorosa-dercums-disease-of-the-thigh-a-case-report Share this: Facebook

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Infections Preceding the Development of Dercum disease This case series calls attention to the presence of lipomas occurring after infections including Lyme disease, histoplasmosis and coccidioidomycosis. Studies examining larger populations with infections are needed, and evaluation of adipose tissue and the lymphatic system in animal models of infections may provide evidence further connecting infection and changes in fat tissue consistent with lipomas. https://www.sciencedirect.com/science/article/pii/S221425091930321X Share this: Facebook

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Adiposis Dolorosa Pain Management Current therapeutic approaches to AD focus on invasive surgical intervention, chronic opiate and oral medication management. However, we have detailed several additional approaches to AD treatment. Ketamine infusions, which have long been a treatment in other chronic pain syndromes may present a viable alternative to lidocaine infusions in patients with AD. Electrocutaneous stimulation is a validated treatment of chronic pain syndromes, including chronic neuropathic pain and offers an alternative to surgical or pharmacologic management. Further, PIT offers another approach to neuropathic pain management, which has yet to be fully explored. As no standard treatment approach exists for patients with AD, multimodal therapies should be considered to optimize pain management and reduce dependency on opiate mediations. Full Article: https://www.mdedge.com/fedprac/article/211595/rare-diseases/adiposis-dolorosa-pain-management/page/0/1 https://mdedge-files-live.s3.us-east-2.amazonaws.com/files/s3fs-public/issues/articles/fed03611529.pdf Share this: Facebook

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Identification of somatic alterations in lipoma using whole exome sequencing Until now, reason for lipoma occurrence not been identified. We performed whole exome sequencing to define the mutational spectrum in ten lipoma patients along with their matching control samples. We presented genomic insight into the development of lipomas, the most common benign tumor of soft tissue. Our analysis identified 412 somatic variants including missense mutations, splice site variants, frameshift indels, and stop gain/lost. Copy number variation analysis highlighted minor aberrations in patients. Kinase genes and transcriptions factors were among the validated mutated genes critical for cell proliferation and survival. Pathway analysis revealed enrichment of calcium, Wnt and phospholipase D signaling in patients. In conclusion, whole exome sequencing in lipomas identified mutations in genes with a possible role in development and progression of lipomas. We performed a genomic analysis to profile the somatic mutational landscape of lipomas by whole exome sequencing. To best of our knowledge, this is first study to perform exome sequencing on lipomas. Full Article – https://www.nature.com/articles/s41598-019-50805-w Share this: Facebook

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Genetic syndromes with localized subcutaneous fat tissue accumulation Summary. Syndromes with localized accumulation of subcutaneous fatty tissue belong to a group of genetically and phenotypically heterogeneous disorders. These diseases may show some common signs, such as nodular fat, symmetrical fat masses, obesity, fatigue, lymphedema and symmetrical lipomas (painful or otherwise). Other symptoms may be specific for the different clinical entities, enabling correct differential diagnosis. Disorders belonging to this spectrum are lipedema, generalized diffuse or nodular forms of Dercum disease, localized nodular Dercum disease and multiple symmetric lipomatosis. Here we summarize the genes involved in syndromes with localized accumulation of subcutaneous fat and the test we use for genetic analysis. Table 1. Genes associated with various forms of localized accumulation of subcutaneous fat – http://mattioli1885journals.com/index.php/actabiomedica/article/download/8767/8311 Share this: Facebook

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