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 –


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 –

Localized Nodular Adiposis Dolorosa – Case Study

A 58-year-old female with no previous medical history presented with a 10-year history of recurrent bilateral metacarpophalangeal and proximal interphalangeal joint pain and inflammation, associated with morning stiffness. Early in the course of her disease, she presented to a primary care clinic but did not followed-up due to economic reasons. At the time of this presentation, physical examination showed ulnar deviation bilaterally, a swan neck deformity in fingers and multiple 1 to 2 cm subcutaneous nodules (Figure 1) affecting the forearms, that were soft, tender and moveable, distributed bilaterally in a non-symmetric fashion, with no associated skin changes. Nodules elicited discomfort and dull pain in the affected areas. Laboratory testing was remarkable for a rheumatoid factor <8 IU/mL and anti-cyclic citrullinated peptide of 1033 U/mL. She was diagnosed with rheumatoid arthritis and a biopsy of a nodule in the left forearm was performed (Figure 2), showing adipose tissue in the microscopic analysis (Figure 3). Alternative diagnoses were excluded, and adiposis dolorosa or Dercum’s disease, with its localized nodular form, was considered as the main differential diagnosis. She was treated symptomatically, and her rheumatoid arthritis regimen was recently started.


This study of dermatological problems faced by obese patients lists adiposis dolorosa as a “skin manifestation”. Adiposis dolorosa is included in a list of dermatological complications of obesity. “Obesity is said to cause…adiposis dolorosa.” 

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The Study:

Dercum’s Disease in A 38 Year Old White Male with Attempted Surgical Treatment: Case Report

A 38 year old white male presented to his primary care provider with a chief complaint of right lower quadrant pain and a 20 year history of multiple fatty tissue growths around his abdomen, back, upper and lower extremities. His pain was primarily located in the right lower quadrant and contained entirely in an apparent lipoma in that area.

For this patient, surgical management via lipectomy was attempted for the most problematic lipomas as they presented. This was also done to obtain specimens for pathologic review to aid in diagnosing the patient’s symptoms. Though pain in the symptomatic lipomas had total improvement, other areas are persistently and increasingly becoming symptomatic. It is unfortunate, but this is similar to other cases of attempted surgical management with local excision. Liposuction has shown some efficacy when compared to control groups, but the increase in quality of life was deemed so insignificant as to not warrant the procedure. In this patient’s case, surgical excision offers relief for short periods of time but the rapid development of pain in other lipomas diminishes its efficacy as a primary treatment. Thusly other options must be explored.

Shaknovsky DO TJ, Salna IV DO J, Tosto Jr ST (2019) Dercum’s Disease in A 38 Year Old White Male with Attempted Surgical Treatment: Case Report. J Dermatol Surg Res Ther 2019: 59-63.

FULL TEXT with photos:

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