Abstract
A male teenager presented with loss of subcutaneous fat on the face and extremities, prominent veins, protruded abdomen, muscle hypertrophy and acromegaly. Further investigations revealed hyperglycemia, hyperlipidemia and hepatospenomegaly. The combination of clinical, radiological and lab features enabled the final diagnosis.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsBibliography
Agarwal A, Simba V, Oral E, et al. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab. 2003;88:4840–7.
Bennett T, Allford M. Delayed emergence from anesthesia in a child with congenital generalized lipodystrophy (Berardinelli–Seip syndrome). Pediatr Anaesth. 2012;22:299–300.
Berardinelli W. An undiagnosed endocrine metabolic syndrome: report of 2 cases. J Clin Endocrinol Metab. 1954;14:193–204.
Ebihara K, Kusakabe T, Hirata M, et al. Efficacy and safety of leptin replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. J Clin Endocrinol Metab. 2007;92:532–41.
Garg A. Acquired and inherited lipodystrophies. New Engl J Med. 2004;350:1220–34.
Garg A, Fleckenstein J, Peshock R, et al. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy. J Clin Endocrinol Metab. 1992;75:358–61.
Garg A, Wilson R, Barnes R, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab. 1999;84:3390.
Gomes K, Pardini V, Ferreira A, et al. Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients. J Inherit Metab Dis. 2005;28:1123–31.
Gomes K, Pardin V, Fernandes A. Clinical and molecular aspects of Berardinelli–Seip congenital lipodystrophy (BSCL). Clin Chim Acta. 2009;402:1–6.
Khandpur S, Kumar A, Khadgawat R. Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case. Indian J Dermatol Venereol Leprol. 2011;77:402.
Magré J, Delépine M, Khallouf E, et al. Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001;28:365.
Oral E, Simha V, Ruiz E, et al. Leptin-replacement therapy for lipodystrophy. N Engl J Med. 2002;346:570–8.
Pagon RA, Bird TD, Dolan CR, et al. Berardinelli–Seip congenital lipodystrophy. Gene Reviews. 2003:1993.
Pardini V, Victória I, Rocha S, et al. Metformin improves metabolic control in subjects with congenital generalized lipoatrophic diabetes. In: 57th Annual Scientific Sessions, Boston, Massachusetts. Diabetes. 1997;46:160A.
Seip M, Trygstad O. Generalized lipodystrophy. Arch Dis Child. 1963;38:447–53.
Seip M, Trygstad O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl. 1996;413:2–28.
Van Maldergem L, Magré J, Khallouf T, et al. Genotype–phenotype relationship in Berardinelli–Seip congenital lipodystrophy. J Med Genet. 2002;39:722–33.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Switzerland AG
About this chapter
Cite this chapter
El-Darouti, M.A., Al-Ali, F.M. (2019). Loss of Subcutaneous Fat, Muscle Hypertrophy, Diabetes and Hyperlipidemia. In: Challenging Cases in Dermatology Volume 2. Springer, Cham. https://doi.org/10.1007/978-3-030-21855-3_2
Download citation
DOI: https://doi.org/10.1007/978-3-030-21855-3_2
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-21854-6
Online ISBN: 978-3-030-21855-3
eBook Packages: MedicineMedicine (R0)