eMedicine Specialties > Dermatology > Diseases of the Subcutaneous Tissue

Lipodystrophy, Progressive

Author: Geover Fernandez, MD, FAAD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry New Jersey, New Jersey Medical School
Coauthor(s): Isabelle Thomas, MD, Associate Professor, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School; Chief of Dermatology Service, Veterans Affairs Medical Center of East Orange
Contributor Information and Disclosures

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.

More on Lipodystrophy, Progressive

Overview: Lipodystrophy, Progressive
Differential Diagnoses & Workup: Lipodystrophy, Progressive
Treatment & Medication: Lipodystrophy, Progressive
Follow-up: Lipodystrophy, Progressive
References
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References

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Further Reading

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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

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Contributor Information and Disclosures

Author

Geover Fernandez, MD, FAAD, Staff Physician, Department of Dermatology, University of Medicine and Dentistry New Jersey, New Jersey Medical School
Geover Fernandez, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and American Society for MOHS Surgery
Disclosure: Nothing to disclose.

Coauthor(s)

Isabelle Thomas, MD, Associate Professor, Department of Dermatology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School; Chief of Dermatology Service, Veterans Affairs Medical Center of East Orange
Isabelle Thomas, MD is a member of the following medical societies: American Academy of Dermatology and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

David P Fivenson, MD, Director, Wound Care Service, Department of Dermatology, Henry Ford Health System
David P Fivenson, MD is a member of the following medical societies: American Academy of Dermatology, Medical Dermatology Society, Michigan Dermatological Society, Michigan State Medical Society, Photomedicine Society, Society for Investigative Dermatology, and Wound Healing Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Lester F Libow, MD, Dermatopathologist, South Texas Dermatopathology Laboratory
Lester F Libow, MD is a member of the following medical societies: American Academy of Dermatology, American Society of Dermatopathology, European Academy of Dermatology and Venereology, International Society of Dermatology, Massachusetts Medical Society, New York Academy of Sciences, Phi Beta Kappa, Society for Investigative Dermatology, and Texas Medical Association
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

 
 
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