Lipodystrophy is characterized by a progressive reduction of adipose tissues. A partial and a generalized form may be distinguished. Though often acquired, as a result of diabetes and AIDS for instance, genetic forms are known as well.
Acanthosis nigricans | |
Generalized and partial lipodystrophy may be accompanied by acanthosis nigricans. |
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Rajab A et al. (2002) Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman. |
2. |
Agarwal AK et al. (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. |
3. |
None (1959) Lipodystrophy and gigantism with associated endocrine manifestations. A new diencephalic syndrome? |
4. |
REED WB et al. (1965) CONGENITAL LIPODYSTROPHIC DIABETES WITH ACANTHOSIS NIGRICANS: THE SEIP-LAWRENCE SYNDROME. |
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SEIP M et al. (1963) GENERALIZED LIPODYSTROPHY. |
6. |
None (1961) Lipodystrophic muscular hypertrophy. |
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Rajab A et al. (2003) Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome? |
8. |
Herbst KL et al. (2003) Köbberling type of familial partial lipodystrophy: an underrecognized syndrome. |
9. |
Van Maldergem L et al. (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. |
10. |
Simha V et al. (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. |
11. |
Barroso I et al. () Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. |
12. |
Garg A et al. (1999) A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. |
13. |
Shimomura I et al. (1999) Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. |
14. |
Afifi AK et al. (1976) The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations. |
15. |
Savage DB et al. (2003) Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma. |
16. |
Hegele RA et al. (2002) PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. |
17. |
Agarwal AK et al. (2002) A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy. |
18. |
Friguls B et al. () Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. |
19. |
Huseman CA et al. (1979) Congenital lipodystrophy. II. Association with polycystic ovarian disease. |
20. |
Uzun O et al. (1997) Congenital total lipodystrophy and peripheral pulmonary artery stenosis. |
21. |
Seip M et al. (1996) Generalized lipodystrophy, congenital and acquired (lipoatrophy). |
22. |
Johansen K et al. (1995) An unusual type of familial lipodystrophy. |
23. |
None (1993) Percussion myoedema in a Pakistani boy with Berardinelli Seip lipodystrophy syndrome. |
24. |
Oseid S et al. (1977) Decreased binding of insulin to its receptor in patients with congenital generalized lipodystrophy. |
25. |
None (1980) Congenital lipodystrophy. A case report. |
26. |
Hamwi GJ et al. (1966) Lipoatrophic diabetes. |
27. |
Brunzell JD et al. (1968) Congenital generalized lipodystrophy accompanied by cystic angiomatosis. |
28. |
Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. |
29. |
Huseman C et al. (1978) Congenital lipodystrophy: An endocrine study in three siblings. I. Disorders of carbohydrate metabolism. |
30. |
Shastry S et al. (2010) Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations. |
31. |
Rajab A et al. (2010) Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. |
32. |
Hayashi YK et al. (2009) Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. |
33. |
Liu L et al. (2008) Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. |
34. |
Simha V et al. (2008) Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. |
35. |
Kim CA et al. (2008) Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. |
36. |
Ebihara K et al. (2007) Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. |
37. |
Köbberling J et al. (1975) Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes. |
38. |
Wettke-Schäfer R et al. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. |
39. |
Greene ML et al. (1970) Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. |
40. |
Dunnigan MG et al. (1974) Familial lipoatrophic diabetes with dominant transmission. A new syndrome. |
41. |
Köbberling J et al. (1986) Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. |
42. |
Burn J et al. (1986) Partial lipoatrophy with insulin resistant diabetes and hyperlipidaemia (Dunnigan syndrome). |
43. |
None (1988) Banting lecture 1988. Role of insulin resistance in human disease. |
44. |
Reardon W et al. (1990) Partial lipodystrophy syndromes--a further male case. |
45. |
Davidson MB et al. (1975) Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities. |
46. |
Magré J et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. |
47. |
Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). |
48. |
Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome. |
50. |
Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. |
51. |
Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. |
52. |
Garg A et al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. |
54. |
Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. |
55. |
Peters JM et al. (1998) Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. |
56. |
Ebihara K et al. (2004) Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene. |
57. |
Fu M et al. (2004) Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. |
58. |
Agarwal AK et al. (2002) AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. |
59. |
Shimomura I et al. (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy. |
60. |
Gandotra S et al. (2011) Perilipin deficiency and autosomal dominant partial lipodystrophy. |
61. |
None (1946) Lipodystrophy and hepatomegaly, with diabetes, lipaemia, and other metabolic disturbances; a case throwing new light on the action of insulin. |
62. |
Araújo-Vilar D et al. (2009) Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy. |
63. |
Vantyghem MC et al. (2008) Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. |
64. |
Spuler S et al. (2007) Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. |
65. |
None (2004) Acquired and inherited lipodystrophies. |
66. |
None (2001) Premature atherosclerosis associated with monogenic insulin resistance. |
67. |
None (2000) Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). |
68. |
Anderson JL et al. (1999) Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. |
69. |
Garg A et al. (1999) Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). |
70. |
Jackson SN et al. (1998) A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q. |
71. |
Robbins DC et al. (1982) Familial partial lipodystrophy: complications of obesity in the non-obese? |
72. |
OMIM.ORG article Omim 608594 |
73. |
Orphanet article Orphanet ID 3452 |
74. |
Wikipedia article Wikipedia EN (Lipodystrophy) |