Diagnostic Considerations

Genetic testing may identify patients whose phenotypes may be inapparent, but who may still be affected by severe metabolic complications.^[22]

Also consider the following:

Generalized lipodystrophies such as Berardinelli-Seip syndrome (associated with acanthosis nigricans) ^[23]
Other types of partial lipodystrophy
Centrifugal lipodystrophy ^[24]
Facial hemiatrophy
Short, hyperextensibility or hernia, ocular depression, Rieger anomaly, and teething (SHORT) syndrome
Werner syndrome
Anterior hypothalamus tumor

Progressive generalized lipodystrophy may be a sign of autoimmune polyglandular syndrome type 1.^[25]

Lipodystrophy may be stigmatizing, implying use of highly active antiretroviral therapy (HAART) for HIV disease.^[26]

Differential Diagnoses

Workup

Herranz P, de Lucas R, Perez-España L, Mayor M. Lipodystrophy syndromes. Dermatol Clin. 2008 Oct. 26(4):569-78, ix. [QxMD MEDLINE Link].
Kanazawa N. Nakajo-Nishimura Syndrome: An Autoinflammatory Disorder Showing Pernio-Like Rashes and Progressive Partial Lipodystrophy. Allergol Int. 2012 Mar 25. 0(0):[QxMD MEDLINE Link].
Cardis MA, Montealegre Sanchez GA, Goldbach-Mansky R, Richard Lee CC, Cowen EW. Recurrent fevers, progressive lipodystrophy, and annular plaques in a child. J Am Acad Dermatol. 2019 Jan. 80 (1):291-295. [QxMD MEDLINE Link].
Okazaki M, Tanaka K, Kodaira S, Homma T, Miyashita H. One-Stage Transfer of 2 Paddles of Thoracodorsal Artery Perforator Flap With 1 Pair of Vascular Anastomoses for Barraquer-Simons Syndrome. J Craniofac Surg. 2012 May 4. [QxMD MEDLINE Link].
Mitchell SW. Singular case of absence of adipose matter in the upper half of the body. Am J Med Sci. 1885. 90:105-106.
Corvillo F, Nozal P, López-Lera A, De Miguel MP, Piñero-Fernández JA, De Lucas R, et al. Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome. J Dermatol. 2020 Dec. 47 (12):1439-1444. [QxMD MEDLINE Link].
Maffeis L, Vercellesi P, Corona F, Forzenigo L, Gelmetti C. Acquired acral lipodystrophy in a 6-year-old girl. Pediatr Dermatol. 2009 Sep-Oct. 26(5):566-8. [QxMD MEDLINE Link].
de Haan W. Lipodystrophy and muscular dystrophy caused by PTRF mutations. Clin Genet. 2010 May. 77(5):436-7. [QxMD MEDLINE Link].
Nabrdalik K, Strózik A, Minkina-Pedras M, Jarosz-Chobot P, Mlynarski W, Grzeszczak W, et al. [Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family]. Endokrynol Pol. 2013. 64(4):306-11. [QxMD MEDLINE Link].
Krawiec P, Mełges B, Pac-Kożuchowska E, Mroczkowska-Juchkiewicz A, Czerska K. Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl. BMC Pediatr. 2016 Mar 14. 16:38. [QxMD MEDLINE Link].
Liu L, Jiang Q, Wang X, Zhang Y, Lin RC, Lam SM, et al. Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy. Diabetes. 2014 Jul. 63(7):2320-31. [QxMD MEDLINE Link].
Ceccarini G, Magno S, Pelosini C, Ferrari F, Sessa MR, Scabia G, et al. Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease. Front Endocrinol (Lausanne). 2020. 11:39. [QxMD MEDLINE Link].
Honda-Ozaki F, Terashima M, Niwa A, Saiki N, Kawasaki Y, Ito H, et al. Pluripotent Stem Cell Model of Nakajo-Nishimura Syndrome Untangles Proinflammatory Pathways Mediated by Oxidative Stress. Stem Cell Reports. 2018 Jun 5. 10 (6):1835-1850. [QxMD MEDLINE Link].
Porcu M, Corda M, Pasqualucci D, Binaghi G, Sanna N, Matta G, et al. A very long-term observation of a family with dilated cardiomyopathy and overlapping phenotype from lamin A/C mutation. J Cardiovasc Med (Hagerstown). 2021 Jan. 22 (1):53-58. [QxMD MEDLINE Link].
Kurugol Z, Ulger Z, Berk O, Tugral O. Acquired partial lipodystrophy associated with varicella. Turk J Pediatr. 2009 Nov-Dec. 51(6):617-20. [QxMD MEDLINE Link].
Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A. Two new cases of Barraquer-Simons syndrome. Am J Med Genet A. 2004 May 1. 126A(4):427-9. [QxMD MEDLINE Link].
Haxton MJ. Progressive partial lipodystrophy in association with intrauterine death and growth retardation. Am J Obstet Gynecol. 1983 Dec 1. 147(7):837-8. [QxMD MEDLINE Link].
Fukumoto D, Kubo Y, Saito M, Arase S. Centrifugal lipodystrophy of the scalp presenting with an arch-form alopecia: a 10-year follow-up observation. J Dermatol. 2009 Sep. 36(9):499-503. [QxMD MEDLINE Link].
Yurekli B, Ozdemir Kutbay N, Altay C, Unlu SM, Sen S, Onay H, et al. A new type of familial partial lipodystrophy: distinctive fat distribution and proteinuria. Endocr Res. 2018 May 7. 1-6. [QxMD MEDLINE Link].
Payapvipapong K, Niumpradit N, Nakakes A, Buranawuti K. A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma. Int J Dermatol. 2014 Jan. 53(1):82-4. [QxMD MEDLINE Link].
Quecedo E, Febrer I, Serrano G, Martinez-Aparicio A, Aliaga A. Partial lipodystrophy associated with juvenile dermatomyositis: report of two cases. Pediatr Dermatol. 1996 Nov-Dec. 13(6):477-82. [QxMD MEDLINE Link].
Lightbourne M, Brown RJ. Genetics of Lipodystrophy. Endocrinol Metab Clin North Am. 2017 Jun. 46 (2):539-554. [QxMD MEDLINE Link].
Spranger S, Spranger M, Tasman AJ, Reith W, Voigtlander T, Voigtlander V. Barraquer-Simons syndrome (with sensorineural deafness): a contribution to the differential diagnosis of lipodystrophy syndromes. Am J Med Genet. 1997 Sep 5. 71(4):397-400. [QxMD MEDLINE Link].
Hagari Y, Sasaoka R, Nishiura S, Ishihara M, Mihara M, Shimao S. Centrifugal lipodystrophy of the face mimicking progressive lipodystrophy. Br J Dermatol. 1992 Oct. 127(4):407-10. [QxMD MEDLINE Link].
Sorkina E, Frolova E, Rusinova D, Polyakova S, Roslavtseva E, Vasilyev E, et al. Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1. J Clin Endocrinol Metab. 2016 Apr. 101 (4):1344-7. [QxMD MEDLINE Link].
Kumar NS, Shashibhushan J, Malappa, Venugopal K, Vishwanatha H, Menon M. Lipodystrophy in Human Immunodeficiency Virus (HIV) Patients on Highly Active Antiretroviral Therapy (HAART). J Clin Diagn Res. 2015 Jul. 9 (7):OC05-8. [QxMD MEDLINE Link].
Coessens BC, Van Geertruyden JP. Simultaneous bilateral facial reconstruction of a Barraquer-Simons lipodystrophy with free TRAM flaps. Plast Reconstr Surg. 1995 Apr. 95(5):911-5. [QxMD MEDLINE Link].
Serra JM, Ballesteros A, Mesa F, Bazan A, Paloma V, Sanz J. Use of the temporal muscle flap in Barraquer-Simon's progressive lipodystrophy. Ann Plast Surg. 1993 Feb. 30(2):180-2. [QxMD MEDLINE Link].
Font J, Herrero C, Bosch X, Cervera R, Ingelmo M, Mascaro JM. Systemic lupus erythematosus in a patient with partial lipodystrophy. J Am Acad Dermatol. 1990 Feb. 22(2 Pt 2):337-40. [QxMD MEDLINE Link].
Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia. 2009 Sep 2. [QxMD MEDLINE Link].

Media Gallery

Model of the adipocyte destruction in acquired partial lipodystrophy showing complement activation at the adipocyte surface resulting in adipocyte lysis. Adipocytes synthesize C3, factor B, and factor D (adipsin), which allows C3bBb to be formed locally, but which usually does not result in the activation of the terminal lytic part of the complement pathway (C5-9).The IgG antibody, C3Nef, prevents the alternative complement C3-convertase C3Bb from dissociative inactivation, resulting in adipocyte lysis. Adipocytes synthesize factor D, the limiting component of the alternative complement pathway, which cleaves C3-bound factor B to its active enzymatic form. Factor D is expressed to a higher extent in the fat cells of the upper half of the body compared with the lower half, and it is possibly this regional difference that accounts for the restriction of fat loss to the head, arms, and trunk. C3Nef is also associated with type II, dense-deposit membranoproliferative glomerulonephritis in which subendothelial deposits of immunoglobulin and C3 are probably due to a deregulated alternative complement pathway.

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Geover Fernandez, MD, FAAD Staff Physician, Department of Dermatology, Rutgers New Jersey Medical School

Geover Fernandez, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for MOHS Surgery

Disclosure: Nothing to disclose.

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, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

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, Texas Medical Association

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Additional Contributors

David P Fivenson, MD Associate Director, St Joseph Mercy Hospital Dermatology Program, Ann Arbor, Michigan

David P Fivenson, MD is a member of the following medical societies: American Academy of Dermatology, Michigan State Medical Society, Society for Investigative Dermatology, Photomedicine Society, Wound Healing Society, Michigan Dermatological Society, Medical Dermatology Society

Disclosure: Nothing to disclose.

Progressive Lipodystrophy Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

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