Dermatologic Manifestations of Generalized Lipodystrophy Differential Diagnoses

1. Patni N, Alves C, von Schnurbein J, Wabitsch M, Tannin G, Rakheja D, et al. A Novel Syndrome of Generalized Lipodystrophy Associated With Pilocytic Astrocytoma. J Clin Endocrinol Metab. 2015 Oct. 100 (10):3603-6. [Medline].

2. Akinci B, Onay H, Demir T, et al. Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study from Turkey. J Clin Endocrinol Metab. 2016 May 4. jc20161005. [Medline].

3. Patni N, Xing C, Agarwal AK, Garg A. Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C. Am J Med Genet A. 2017 Jul 7. [Medline].

4. Jin J, Cao L, Zhao Z, et al. Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. Eur J Endocrinol. 2007 Dec. 157(6):783-7. [Medline].

5. Knebel B, Kotzka J, Lehr S, Hartwig S, Avci H, Jacob S, et al. A mutation in the c-fos gene associated with congenital generalized lipodystrophy. Orphanet J Rare Dis. 2013 Aug 7. 8:119. [Medline]. [Full Text].

6. 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. [Medline].

7. Purizaca-Rosillo ND, Benites-Cóndor YE, Abarca Barriga H, Del Águila Villar C, Chávez Pastor M, Franco Palacios L, et al. High prevalence of congenital generalized lipodystrophy in Piura, Peru. Intractable Rare Dis Res. 2020 Feb. 9 (1):58-60. [Medline].

8. Lima JG, Nobrega LH, de Lima NN, do Nascimento Santos MG, Baracho MF, Jeronimo SM. Clinical and laboratory data of a large series of patients with congenital generalized lipodystrophy. Diabetol Metab Syndr. 2016. 8:23. [Medline].

9. Llamas-Velasco M, Daudén E, Martínez-Peñas G, García-Diez A. Late-Onset Acquired Generalized Lipodystrophy With Muscle Involvement. Actas Dermosifiliogr. 2011 Dec 19. [Medline].

10. Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, et al. Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy. PLoS One. 2018. 13 (6):e0199052. [Medline].

11. Scatteia A, Pagano C, Pascale C, Guarini P, Marotta G, Perrone-Filardi P, et al. Asymmetric hypertrophic cardiomyopathy in generalized lipodystrophy. Int J Cardiol. 2015 Oct 9. 202:724-725. [Medline].

12. Faria CA, Moraes RS, Sobral-Filho DC, Rego AG, Baracho MF, Egito ES, et al. Autonomic modulation in patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). Europace. 2009 Apr 17. [Medline].

13. Solanki M, Patil SS, Baweja DK, Noorani H, Pk S. Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008 Jan. 105(1):e41-7. [Medline].

14. Haddad N, Vidal-Trecan T, Baroudjian B, Zagdanski AM, Arangalage D, Battistella M, et al. Acquired generalized lipodystrophy under immune checkpoint inhibition. Br J Dermatol. 2019 May 11. [Medline].

15. Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli-Seip syndrome). Paediatr Anaesth. 2012 Mar. 22(3):299-300. [Medline].

16. Rego AG, Mesquita ET, Faria CA, et al. [Cardiometabolic abnormalities in patients with berardinelli-Seip syndrome]. Arq Bras Cardiol. 2010 Jan. 94(1):109-18. [Medline].

17. Al-Attar SA, Pollex RL, Robinson JF, Miskie BA, Walcarius R, Little CH, et al. Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging. BMC Med Imaging. 2007. 7:3. [Medline].

18. Mork NJ, Rajka G, Halse J. Treatment of acanthosis nigricans with etretinate (Tigason) in a patient with Lawrence-Seip syndrome (generalized lipodystrophy). Acta Derm Venereol. 1986. 66(2):173-4. [Medline].

19. Miehle K, Stumvoll M, Fasshauer M. [Lipodystrophy : Mechanisms, clinical presentation, therapy.]. Internist (Berl). 2011 Apr. 52(4):362-373. [Medline].

20. Moran SA, Patten N, Young JR, Cochran E, Sebring N, Reynolds J, et al. Changes in body composition in patients with severe lipodystrophy after leptin replacement therapy. Metabolism. 2004 Apr. 53(4):513-9. [Medline].

21. Gorden P, Gavrilova O. The clinical uses of leptin. Curr Opin Pharmacol. 2003 Dec. 3(6):655-9. [Medline].

22. Javor ED, Cochran EK, Musso C, Young JR, Depaoli AM, Gorden P. Long-term efficacy of leptin replacement in patients with generalized lipodystrophy. Diabetes. 2005 Jul. 54(7):1994-2002. [Medline].

23. Oral EA, Chan JL. Rationale for leptin-replacement therapy for severe lipodystrophy. Endocr Pract. 2010 Mar-Apr. 16(2):324-33. [Medline].

24. Rodriguez AJ, Mastronardi CA, Paz-Filho GJ. New advances in the treatment of generalized lipodystrophy: role of metreleptin. Ther Clin Risk Manag. 2015. 11:1391-400. [Medline].

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Cris Jagar, MD Staff Physician, Department of Psychiatry, Trinitas Regional Medical Center

Disclosure: Nothing to disclose.

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.

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

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article