Lipomatoses

Area of Science:

• Endocrinology
• Pathology
• Genetics

Background:

• Lipomatoses involve benign adipose tissue proliferation, with lipomas being the most frequent manifestation.
• These growths can be solitary or multiple, encapsulated or unencapsulated, and occur subcutaneously or viscerally, sometimes without obesity.
• Unlike lipodystrophy syndromes, lipomatoses typically lack lipoatrophy, with exceptions like familial partial lipodystrophy type 2 (FPLD2).

Purpose of the Study:

• To review the primary classifications of lipomatoses.
• To elucidate the physiopathological underpinnings of different lipomatosis types where known.
• To provide a comprehensive overview of lipomatosis classifications and their known etiologies.

Main Methods:

• Literature review of existing studies on lipomatoses.
• Categorization of lipomatoses into isolated, syndromic, and visceral forms.
• Analysis of physiopathological mechanisms associated with various lipomatosis subtypes.

Main Results:

• Isolated lipomatoses include Madelung disease, Dercum's disease, and familial multiple lipomatosis.
• Syndromic lipomatoses are associated with genetic disorders like PIK3CA-related disorders, Cowden syndrome, and mitochondrial diseases (e.g., MERRF).
• Visceral lipomatoses affect organs such as the pancreas, adrenals, and mediastinum, with diverse reported locations.

Conclusions:

• Lipomatoses represent a heterogeneous group of adipose tissue disorders with varied clinical presentations and underlying causes.
• Understanding the classification and pathophysiology is crucial for managing functional and aesthetic consequences.
• Further research into the physiopathology of less understood lipomatosis types is warranted.