eMedicine Specialties > Dermatology > Diseases of the Subcutaneous Tissue

Lipodystrophy, Progressive: Differential Diagnoses & Workup

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

Differential Diagnoses

Cockayne Syndrome
Lipodystrophy, HIV
Lipodystrophy, Localized

Other Problems to Be Considered

Generalized lipodystrophies such as Berardinelli-Seip syndrome (associated with acanthosis nigricans)
Other types of partial lipodystrophy
Centrifugal lipodystrophy
Facial hemiatrophy
Short, hyperextensibility or hernia, ocular depression, Rieger anomaly, and teething (SHORT) syndrome
Werner syndrome
Anterior hypothalamus tumor

Workup

Laboratory Studies

  • Urinalysis may be helpful.
    • Approximately one third of patients with this condition have some degree of glomerulonephritis, and, if hypocomplementemia is present, the risk is higher.
    • Manifestations of glomerulonephritis range from asymptomatic proteinuria to a nephrotic syndrome and renal insufficiency.
  • Baseline creatinine and blood urea nitrogen studies, as well as urine studies, should be performed to detect proteinuria and hematuria.
  • A CBC count should be obtained. Normochromic normocytic anemia is often present.
  • Immune studies can be ordered.
    • Immune studies may be needed to identify patients with associated immune disorders, particularly if the diagnosis of partial lipodystrophy is made at a younger age.
    • The presence of serum antinuclear antibodies and anti–double-stranded DNA antibodies has been reported in some patients.
  • Complement levels may be determined.
    • The most common laboratory abnormality in patients with progressive lipodystrophy is a low complement level.
    • Hypocomplementemia is characterized by a low C3 complement level, a normal C4 level, and the presence of C3 nephritic factor.
  • Lipid studies may be performed. Hypertriglyceridemia secondary to nephrotic syndrome may be present in some patients.

Imaging Studies

  • Head MRIs show evidence of fat loss.

Other Tests

  • Immunofluorescence studies show deposits of C3 in a granular pattern in the basement membranes.

Procedures

  • Skin biopsy findings confirm the diagnosis.
  • Kidney biopsy is required if a glomerulonephritis is associated.

Histologic Findings

Cutaneous biopsy reveals a reduction or absence of subcutaneous fat in affected areas. Subcutaneous fat cells are decreased in number.

Traces of adipose tissue may be found around hair follicles and sebaceous glands. The dermis and epidermis are normal.

Renal biopsy findings are characterized by a membranoproliferative glomerulonephritis with a proliferation of mesangial cells and matrix, as well as thickening of the basement membranes by amorphous electron-dense deposits.

Immunofluorescence studies show deposits of C3 in a granular pattern in the basement membranes.

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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