Rare Forms of Lipomatosis: Dercum’s Disease and Roch-Leri Mesosomatous Lipomatosis

Abstract

In contrast to obesity, which is very frequent, lipomatosis and lipodystrophy syndromes are rare diseases of adipose tissue. Lipodystrophy syndromes are characterized by metabolic abnormalities associated with partial or generalized lipoatrophy. Lipomatosis is defined by the presence of several body lipomas without lipoatrophy. Dercum’s disease (DD) and Roch-Leri mesosomatous lipomatosis (RLML) are rare and poorly characterized forms of lipomatosis. They have raised little clinical interest despite the non-negligible consequences of DD on quality of life. The main clinical presentation of these diseases includes multiple lipomas, which are painful in DD (in contrast to RLML). The two diseases are frequently associated with obesity and metabolic syndrome, with hypertension, diabetes, or dyslipidemia. The long-term course of the diseases remains poorly described. DD affects mainly women, whereas RLML mostly affects men. In both diseases lipomas are found on the back and thighs, as well as on the abdomen in DD and the forearms in RLML. The painful lipomas tend to recur after surgery in DD (in contrast to RLML). Most cases are sporadic. No specific treatment has been identified, as the pathophysiology remains unknown. Nevertheless, low-grade fat inflammation and specific abnormalities such as hyperbasophilia deserve further investigation. The aim of this review is to analyze the available literature on the topic.

Dercum's Disease: A Rare Disease of Painful Fatty Lumps

“…The timely recognition and assessment of individuals is crucial to commence intervention and direct them to the relevant specialized fields, thereby mitigating the negative societal perception associated with their condition and ultimately enhancing their overall well-being. Dercum's disease is seen more frequently in obese women [ 5 ]; our patient, however, had a normal BMI and was a young male patient, making it a unique presentation in the literature.…”

“…The pathophysiology remains unclear [ 4 ]. The epidemiology of this condition has not yet been defined, but literature suggests a higher prevalence in postmenopausal obese females [ 5 ]. We report a case of Dercum's disease in a previously healthy male patient.…”

Infiltrative Intramuscular Lipoma with Overlying Fascial Defect in the Anterior Thigh: A Case Report

“…Lipomatosis affects younger patients, has multiple lipomas throughout the body, or involves the entire body region. It is often associated with various syndromes or obesity and presents with multiple poorly circumscribed lesions on MRI [ 3 , 9 , 10 ]. Furthermore, liposarcomas are often found to be heterogeneous and highly vascular, with irregularly thick septa [ 11 ].…”

Lurking Under the Surface: Dercum’s Disease

“…Dercum’s disease is classified as an orphan disease within the National Organization for Rare Disorders (NORD) and Orphanet (ORPHA:36397). The disease is found to be 5-10x more common in females, generally after menopause, between the ages of 35 years and 50 years [ 4 ]. Due to the scarcity of data, there are no adequate studies calculating the prevalence or incidence of the disease.…”