eMedicine Specialties > Dermatology > Diseases of the Subcutaneous Tissue
Lipodystrophy, Progressive
Updated: Mar 28, 2007
Introduction
Background
Subcutaneous loss of fat can occur as generalized or partial lipodystrophy; the latter is more common. Progressive lipodystrophy is the most common type of partial lipodystrophy. The other types, such as the Kobberling-Dunnigan variety or the familial mandibuloacral dysplasia syndrome, may be familial and tend to be associated with metabolic anomalies such as glucose intolerance and hypertriglyceridemia.
Progressive lipodystrophy is a rare condition that typically affects children and young adults. The first case was described by Mitchell in 1886, and later cases were described by Barraquer in 1907 and Simons in 1911. The onset is usually insidious with the slow, progressive disappearance of subcutaneous fat involving the upper half of the body. The predictive progression of the disease from the face to the neck, upper extremities, and trunk (sparing the buttocks and lower limbs) is characteristic. Associated hypocomplementemia, glomerulonephritis, and autoimmune disorders are frequently present in some patients.
Pathophysiology
The etiology of this condition is obscure. Lipodystrophy is often associated with glomerulonephritis, low C3 serum complement levels, and the presence of a C3 nephritic factor. C3 nephritic factor is a serum immunoglobulin G that interacts with the C3bBb alternative pathway convertase to activate C3.
C3 nephritic factor induces the lysis of adipocytes that secrete adipsin, a product identical to complement factor D. The distribution of the lipoatrophy is postulated to be dictated by the variable amounts of adipsin secreted by the adipocytes at different locations.
Frequency
International
This condition is rare, with fewer than 200 cases reported in the world literature since the first case was reported in 1885.
Mortality/Morbidity
Acquired progressive lipodystrophy is a nonfatal condition, but it is frequently associated with mesangiocapillary glomerulonephritis, which can lead to renal insufficiency.
- In pregnancy, more severe renal disease is associated with a risk of intrauterine growth retardation, prematurity, and fetal death.
- Associated autoimmune disorders are also present in some patients, including systemic lupus erythematosus and dermatomyositis.
Race
No racial predilection is reported.
Sex
This condition is 4-5 times more common in women than in men. Of patients with progressive lipodystrophy, 80% are females.
- The accumulation of fat in the buttocks and lower limbs occurs almost exclusively in females.
- Males who are affected usually have lipoatrophy without lower body hypertrophy.
Age
- Progressive lipodystrophy typically starts in individuals aged 0-20 years, with most cases starting before individuals are aged 15 years.
- This condition tends to develop earlier in most male patients compared with female patients.
Clinical
History
- Patients are born healthy with a normal appearance and fat distribution.
- In individuals aged 0-20 years, progressive loss of fat, which first involves the face, spreads distally to the neck, arms, and trunk; the lower part of the body is usually spared.
Physical
Because of the insidious onset and slow progression of this condition, most patients present when the disease is in an advanced stage. Advanced cases have a characteristic physical appearance.
- The face appears cachectic.
- Buccal fat pads are absent, resulting in a prominent zygoma and chin.
- The temples and cheeks are hollowed, causing a cadaverous appearance.
- The eyes are deeply sunken due to the loss of periorbital fat.
- The face is heavily lined, creating numerous wrinkles lying over the cheeks, which causes the appearance of premature senility.
- The scalp, hair, and other facial areas are unaffected.
- Frequently, the breasts are underdeveloped, with a firm, nodular feel.
- The arms and shoulders have a clear, well-demarcated outline of muscles below the skin, which gives the false impression of increased muscularity.
- The area of fat loss is sharply demarcated at a level above the thighs; the lower extremities are spared.
- The uninvolved lower part of the body appears obese when contrasted with the upper, thin area.
- In female patients, excessive fat may develop on the legs and buttocks after puberty.
- The overlying skin itself is normal in color, elasticity, and texture.
- No muscular hypertrophy is noted.
Causes
- No specific cause or risk factor has been elucidated.
- Some reports have shown a correlation with prior acute viral or bacterial infection.
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References
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Further Reading
Keywords
progressive partial lipodystrophy, Barraquer-Simons syndrome, acquired partial lipodystrophy, cephalothoracic dystrophy, acquired progressive lipodystrophy, Kobberling-Dunnigan syndrome, familial mandibuloacral dysplasia syndrome, generalized lipodystrophy, metabolic anomalies, glucose intolerance, hypertriglyceridemia, hypocomplementemia, glomerulonephritis, autoimmune disorders
Overview: Lipodystrophy, Progressive