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Annales D'endocrinologie Jun 2024Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple,... (Review)
Review
Lipomatoses are benign proliferation of adipose tissue. Lipomas (benign fat tumors) are the most common component of lipomatosis. They may be unique or multiple, encapsulated or not, subcutaneous or sometimes visceral. In some cases, they form large areas of non-encapsulated fat hypertrophy, with a variable degree of fibrosis. They can develop despite the absence of obesity. They may be familial or acquired. At difference with lipodystrophy syndromes, they are not associated with lipoatrophy areas, except in some rare cases such as type 2 familial partial lipodystrophy syndromes (FPLD2). Their metabolic impact is variable in part depending on associated obesity. They may have functional or aesthetic consequences. Lipomatosis may be isolated, be part of a syndrome, or may be visceral. Isolated lipomatoses include multiple symmetrical lipomatosis (Madelung disease or Launois-Bensaude syndrome), familial multiple lipomatosis, the painful Dercum's disease also called Adiposis Dolorosa or Ander syndrome, mesosomatic lipomatosis also called Roch-Leri lipomatosis, familial angiolipomatosis, lipedema and hibernomas. Syndromic lipomatoses include PIK3CA-related disorders, Cowden/PTEN hamartomas-tumor syndrome, some lipodystrophy syndromes, and mitochondrial diseases, especially MERRF, multiple endocrine neoplasia type 1, neurofibromatosis type 1, Wilson disease, Pai or Haberland syndromes. Finally, visceral lipomatoses have been reported in numerous organs and sites: pancreatic, adrenal, abdominal, epidural, mediastinal, epicardial… The aim of this review is to present the main types of lipomatosis and their physiopathological component, when it is known.
Topics: Humans; Lipomatosis; Lipoma; Lipomatosis, Multiple Symmetrical; Lipodystrophy; Adipose Tissue; Adiposis Dolorosa
PubMed: 38871514
DOI: 10.1016/j.ando.2024.05.003 -
Cureus Nov 2023Dercum's disease is a rare and poorly understood condition characterized by painful subcutaneous adipose tissue growth that can occur anywhere beneath the skin surface....
Dercum's disease is a rare and poorly understood condition characterized by painful subcutaneous adipose tissue growth that can occur anywhere beneath the skin surface. We present the case of a 27-year-old man with no significant medical history who had been experiencing painful subcutaneous nodules for two years. Skin biopsy revealed the proliferation of mature adipocytes that were surrounded by fibrous septa. There are currently no treatments approved by the US Food and Drug Administration for Dercum's disease, and the effectiveness of treatments that have been attempted is variable.
PubMed: 38084160
DOI: 10.7759/cureus.48615 -
Journal of Vascular Surgery Cases and... Sep 2023Lower limb venous obstruction secondary to a lipoma is a rare occurrence. Patients with these benign soft tissue tumors can be asymptomatic, or may experience symptoms...
Lower limb venous obstruction secondary to a lipoma is a rare occurrence. Patients with these benign soft tissue tumors can be asymptomatic, or may experience symptoms of pain, parasthesia, paralysis and swelling secondary to compression on adjacent neurovascular structures. Duplex ultrasound examination is the first-line investigation, but has its limitations. We report on a case of venous obstruction syndrome misdiagnosed as chronic venous insufficiency on duplex ultrasound examination, from a deep-seated giant lipoma compressing on the common femoral and distal external iliac vein in a patient with Dercum's disease.
PubMed: 37662572
DOI: 10.1016/j.jvscit.2023.101275 -
Surgical Neurology International 2023Dercum's Disease (DD) is a rare chronic pain syndrome in which patients experience extreme burning pain associated with subcutaneous lipomatous tissue deposits. These...
BACKGROUND
Dercum's Disease (DD) is a rare chronic pain syndrome in which patients experience extreme burning pain associated with subcutaneous lipomatous tissue deposits. These patients may also present with; weakness, psychiatric symptoms, metabolic derangements, sleep disturbance, impaired memory, and easy bruising. Common risk factors for DD include: obesity, Caucasian race, and female sex. The etiology of DD remains under debate while it has proven highly resistant to treatment (i.e., requiring high doses of opioids for adequate pain management).
CASE DESCRIPTION
A 48-year-old female with DD and a prior spinal cord stimulator (SCS) placed for chronic back pain, presented with recurrent back pain, and increased falling. Surgery to replace her SCS resulted in improvement in her back pain and a decreased incidence of falls. Furthermore, she noticed significant improvement in the burning pain attributed to her subcutaneous nodules; this most markedly occurred at and below the level of stimulator placement.
CONCLUSION
A 48-year-old female with the extremely rare condition, DD experienced dramatic reduction in her pain following the successful revision of her SCS.
PubMed: 37025543
DOI: 10.25259/SNI_1148_2022 -
Ugeskrift For Laeger Nov 2022
Topics: Humans; Adiposis Dolorosa
PubMed: 36345901
DOI: No ID Found -
Cureus Aug 2022Here, we report a case of a 70-year-old female who presented with a slowly enlarging tender nodule on the right forearm for several months. Physical examination showed a...
Here, we report a case of a 70-year-old female who presented with a slowly enlarging tender nodule on the right forearm for several months. Physical examination showed a faintly blue-tinged freely mobile subcutaneous nodule. Excision was complicated by greater than expected bleeding and revealed an unexpected intravenous mass. Histopathology demonstrated capillary lobules separated by fibrous septae within a vein, consistent with intravenous lobular capillary hemangioma (IVLCH). IVLCH is a rare benign capillary proliferation of unclear etiology. Excision is typically curative and relieves any pain and discomfort the patient might be experiencing. With the addition of IVLCH, we respectfully propose a new acronym for the differential diagnosis of cutaneous tender tumors: intravenous lobular capillary hemangioma, foreign body (reaction), hidradenoma, osteoma cutis, glomus tumor, scar, fibromyxoma, leiomyosarcoma, eccrine angiomatous hamartoma, Dercum's disease (adiposis dolorosa), piezogenic pedal papule, eccrine spiradenoma, neurilemmoma (schwannoma), calcinosis cutis, angioendotheliomatosis, leiomyoma, metastases, angiolipoma, neuroma, dermatofibroma, granular cell tumor, endometriosis, thrombus, blue rubber bleb nevus, angioma, chondrodermatitis nodularis helicis, and keloid ("IF HOGS FLED PEN, CALM AND GET BACK"). Future additions to the cutaneous tender tumor differential diagnosis may require creative additions and rearrangements to this acronym. However, continual updates will allow it to serve both clinicians and pathologists alike as a comprehensive representation of etiologies to consider for cutaneous tender tumors.
PubMed: 36120217
DOI: 10.7759/cureus.28030 -
The Yale Journal of Biology and Medicine Dec 2021Dercum's disease (DD), also described as adiposis dolorosa, is a poorly understood and rare adipose tissue disorder involving obesity and painful adipose tissue masses.... (Review)
Review
Dercum's disease (DD), also described as adiposis dolorosa, is a poorly understood and rare adipose tissue disorder involving obesity and painful adipose tissue masses. Patients may have associated bruising and constitutional symptoms such as fatigue, difficulty concentrating, and sleep disturbance. DD was initially described in 1888 by Francis Xavier Dercum, and was classified into four subtypes, including generalized diffuse, generalized nodular, localized nodular, and juxta-articular subtypes. While this disease has been described for more than 130 years, its etiology and treatment remain elusive. We describe a case of a patient with DD who presented to Ochsner Medical Center, New Orleans, LA, for evaluation of treatment options. We review current knowledge on this rare disease and data on modern treatment methods.
Topics: Adipose Tissue; Adiposis Dolorosa; Diagnosis, Differential; Humans; Obesity; Pain
PubMed: 34970098
DOI: No ID Found -
Medicine Dec 2021Dercum's disease (DD), or adiposis dolorosa, is a rare condition of unknown etiology characterized by growth of painful subcutaneous adipose tissue. No specific...
Dercum's disease (DD), or adiposis dolorosa, is a rare condition of unknown etiology characterized by growth of painful subcutaneous adipose tissue. No specific treatment exists. Pain is often invalidating and resistant to analgesic drugs. We tested the efficacy of Frequency Rhythmic Electrical Modulation System (FREMS) therapy on pain relief. Subcutaneous biopsies were performed for genetic analysis.Nine DD patients were enrolled. Five cycles of FREMS at 3-month intervals during 1 year were administered. Visual analogue scale (VAS), Bartel Index Questionnaire and Short Form 36 questionnaire were used to measure pain and general health status at baseline, 6 and 12 months. Dual-energy X-ray absorptiometry (DEXA) quantified fat mass. Next-Generation Sequencing (NGS) was performed on adipose tissue biopsies and peripheral blood sample to search for somatic variants and specific protein pathway mutation.Seven patients were included in the final analysis. FREMS induced a reduction in VAS score (from 92 to 52.5, P = .0597) and a significant improvement in SF-36 domains (Physical functioning, Role limitation due to physical health, Body pain, Vitality, Social functioning, P < .05). No modification in anthropometrics and DEXA values was observed. The analysis of the mitochondrial Displacement loop (D-loop) region confirmed the clonality of all lipomatous lesions. The presence of the mitochondrially encoded tRNA-Lysine (MT-TK) m.8344A>G variant, occasionally identified in patients with multiple symmetric lipomatosis, was excluded in all subjects. On the other hand, we observed variants in genes belonging to signaling pathways involved in cell cycle and proliferation (Phosphoinositide 3-kinase/AKT/mTOR, MAPK/ERK, and Hippo).FREMS can be a useful tool to alleviate pain and improve overall quality of life in patients with DD. Genetic analysis highlighted the molecular heterogeneity of lipomas.
Topics: Adiposis Dolorosa; Adult; Female; High-Throughput Nucleotide Sequencing; Humans; Lipoma; Male; Middle Aged; Pain; Pain Management; Pilot Projects; Quality of Life; Transcutaneous Electric Nerve Stimulation
PubMed: 34941153
DOI: 10.1097/MD.0000000000028360