CGL is an autosomal recessive disorder characterized by near-complete lack of fat starting at birth or infancy, prominent muscles, phlebomegaly, acanthosis nigricans, hepatomegaly, umbilical prominence, and voracious appetite in childhood (,). Multiple genetic causes have been identified, each with unique clinical features (). Metabolic complications are frequent and may be severe. Cardiomyopathy or rhythm disturbances may occur. Familial Partial Lipodystrophy (FPLD) FPLD is a group of usually autosomal dominant disorders characterized by loss of fat affecting the limbs, buttocks, and hips (). Regional excess fat accumulation is frequent, varies by subtype, and may result in a Cushingoid appearance. Fat distribution is typically normal in early childhood, with loss of fat occurring around puberty. Muscular hypertrophy is common. Metabolic complications are common in adulthood (), with increased risk of coronary heart disease () and occasionally early cardiomyopathy. Acquired Generalized Lipodystrophy (AGL, Lawrence syndrome): AGL is more common in females (F:M; 3:1), and appears usually before adolescence (but may develop at any time in life) with progressive loss of fat affecting the whole body including palms and soles (). Some complications are fat accumulation can appear in the face, neck or axillae. Metabolic frequent and may be severe. AGL is often associated with autoimmune diseases (,). Acquired Partial Lipodystrophy (APL, Barraquer-Simons syndrome): APL is more frequent in females (F:M; 4:1) and usually begins in childhood or adolescence. Loss of fat follows a cranio-caudal trend, progressively affecting the face, neck, shoulders, arms, and trunk. Fat accumulation can appear in the hips, buttocks and legs (). APL is associated with autoimmune diseases, especially membranoproliferative glomerulonephritis (MPGN) in ~20% (). Most patients have low serum
CGL is an autosomal recessive disorder characterized by near-complete lack of fat starting at birth or infancy, prominent muscles, phlebomegaly, acanthosis nigricans, hepatomegaly, umbilical prominence, and voracious appetite in childhood (,). Multiple genetic causes have been identified, each with unique clinical features (). Metabolic complications are frequent and may be severe. Cardiomyopathy or rhythm disturbances may occur. Familial Partial Lipodystrophy (FPLD) FPLD is a group of usually autosomal dominant disorders characterized by loss of fat affecting the limbs, buttocks, and hips (). Regional excess fat accumulation is frequent, varies by subtype, and may result in a Cushingoid appearance. Fat distribution is typically normal in early childhood, with loss of fat occurring around puberty. Muscular hypertrophy is common. Metabolic complications are common in adulthood (), with increased risk of coronary heart disease () and occasionally early cardiomyopathy. Acquired Generalized Lipodystrophy (AGL, Lawrence syndrome): AGL is more common in females (F:M; 3:1), and appears usually before adolescence (but may develop at any time in life) with progressive loss of fat affecting the whole body including palms and soles (). Some fat accumulation can appear in the face, neck or axillae. Metabolic complications are frequent and may be severe. AGL is often associated with autoimmune diseases (,). Acquired Partial Lipodystrophy (APL, Barraquer-Simons syndrome): APL is more frequent in females (F:M; 4:1) and usually begins in childhood or adolescence. Loss of fat follows a cranio-caudal trend, progressively affecting the face, neck, shoulders, arms, and trunk. Fat accumulation can appear in the hips, buttocks and legs (). APL is associated with autoimmune diseases, especially membranoproliferative glomerulonephritis (MPGN) in ~20% (). Most patients have low serum