Lipodystrophy, Generalized: Differential Diagnoses & Workup

References

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

2. 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. Jan 2008;105(1):e41-7. [Medline].

3. 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].

4. Mørk 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].

5. 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. Apr 2004;53(4):513-9. [Medline].

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

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

8. Asano S, Matsuki S, Ozawa Y, Saruta T, Nagashima M. A case of Seip-Lawrence syndrome with acanthosis nigricans. Keio J Med. Sep 1966;15(3):101-10. [Medline].

9. Dhar V, Deorari AK, Kalra V. Seip-Lawrence syndrome (congenital generalised lipodystrophy)--a case report. Indian J Pediatr. Nov-Dec 1982;49(401):881-4. [Medline].

10. Dong G, Liang L, Zou C. Congenital generalized lipodystrophy in a 4 year old Chinese girl. Indian Pediatr. Oct 2005;42(10):1036-8. [Medline].

11. Francis GA, Li G, Casey R, Wang J, Cao H, Leff T, et al. Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med Genet. 2006;7:3. [Medline].

12. Fu M, Kazlauskaite R, Baracho Mde F, Santos MG, Brandao-Neto J, Villares S, et al. Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. J Clin Endocrinol Metab. Jun 2004;89(6):2916-22. [Medline].

13. Hegele RA, Joy TR, Al-Attar S, Rutt BK. Lipodystrophies: windows on adipose biology and metabolism. J Lipid Res. Mar 20 2007;[Medline].

14. Janaki VR, Premalatha S, Rao NR, Thambiah AS. Lawrence-Seip syndrome. Br J Dermatol. Dec 1980;103(6):693-6. [Medline].

15. Mahmoud SF. Lawrence-Seip syndrome: report of a case from Egypt. Cutis. Aug 1997;60(2):91-3. [Medline].

16. Peinado Cabrera EJ, Bernat Condomina G, Serrano Corredor S, Navarro Tellez MP, Moragon Gordon M. [Seip-Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case]. An Med Interna. Mar 1997;14(3):135-8. [Medline].

17. Prasad AN. Berardinelli seip syndrome. Indian Pediatr. Dec 2005;42(12):1245. [Medline].

18. Raygada M, Rennert O. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings. Clin Genet. Jan 2005;67(1):98-101. [Medline].

19. Reed WB, Dexter R, Corley C, Fish C. Congenital lipodystrophic diabetes with acanthosis nigricans. The Seip-Lawrence syndrome. Arch Dermatol. Apr 1965;91(4):326-34. [Medline].

20. Schwartz RA. Acanthosis nigricans. J Am Acad Dermatol. Jul 1994;31(1):1-19; quiz 20-2. [Medline].

21. Wacharasindhu S, Veerakul K, Likitmaskul S, Punnakanta L, Angsusingha K, Tuchinda C, et al. Congenital generalized lipodystrophy, a case report. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:44-6. [Medline].

22. Wong SP, Huda M, English P, Bargiotta A, Wilding JP, Johnson A, et al. Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C. Diabetologia. Dec 2005;48(12):2641-9. [Medline].

Further Reading

Keywords

Lawrence-Seip syndrome, Seip-Lawrence syndrome, congenital lipodystrophic diabetes with acanthosis nigricans, Berardinelli-Seip syndrome, acanthosis nigricans, generalized lipodystrophy

Contributor Information and Disclosures

Author

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Cris Jagar, MD, Staff Physician, Department of Psychiatry, Saint Vincent Catholic Medical Centers
Disclosure: Nothing to disclose.

Medical Editor

Albert C Yan, MD, Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania
Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Investigative Dermatology, and Society for Pediatric Dermatology
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

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.