Introduction

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  • 3  Dunmore SJ, Brown JE. The role of adipokines in β‐cell failure of type 2 diabetes. J Endocrinol 2013;216:T37–45. Cross Ref link Pubmed link
  • 4  Mattu HS, Randeva HS. Role of adipokines in cardiovascular disease. J Endocrinol 2013;216:T17–36. Cross Ref link Pubmed link
  • 5  Wu J, Cohen P, Spiegelman BM. Adaptive thermogenesis in adipocytes: is beige the new brown? Genes Dev 2013;27:234–50. Cross Ref link Pubmed link
  • 6  Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96:3313–25. Cross Ref link Pubmed link
  • 7  Langendoen SI, Habbema L, Nijsten TE, Neumann HA. Lipoedema: from clinical presentation to therapy. A review of the literature. Br J Dermatol 2009;161:980–6. Cross Ref link Pubmed link
  • 8  Lindhurst MJ, Parker VE, Payne F, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet 2012;44:928–33. Cross Ref link Pubmed link
  • 9  Flegal KM, Kit BK, Orpana H, Graubard BI. Association of all‐cause mortality with overweight and obesity using standard body mass index categories: a systematic review and meta‐analysis. JAMA 2013;309:71–82. Cross Ref link Pubmed link
  • 10  Dalal KM, Antonescu CR, Singer S. Diagnosis and management of lipomatous tumors. J Surg Oncol 2008;97:298–313. Cross Ref link Pubmed link
  • 11  Requena L, Yus ES. Panniculitis. Part I. Mostly septal panniculitis. J Am Acad Dermatol 2001;45:163–83. Cross Ref link Pubmed link
  • 12  Requena L, Yus ES. Panniculitis. Part II. Mostly lobular panniculitis. J Am Acad Dermatol 2001;45:325–61. Cross Ref link Pubmed link

Congenital (familial) lipodystrophies

  • 13  Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96:3313–25. Cross Ref link Pubmed link
  • 14  Semple RK, Savage DB, Cochran EK, et al. Genetic syndromes of severe insulin resistance. Endocr Rev 2011;32:498–514. Cross Ref link Pubmed link
  • 15  Osorio FG, Ugalde AP, Mariño G, et al. Cell autonomous and systemic factors in progeria development. Biochem Soc Trans 2011;39:1710–14. Cross Ref link Pubmed link
  • 16  Caux F, Dubosclard E, Lascols O, et al. A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin‐resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 2003;88:1006–13. Cross Ref link Pubmed link
  • 17  Cabanillas R, Cadiñanos J, Villameytide JA, et al. Néstor–Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. Am J Med Genet A 2011;155A:2617–25. Cross Ref link Pubmed link
  • 18  Puente XS, Quesada V, Osorio FG, et al. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome. Am J Hum Genet 2011;88:650–6. Cross Ref link Pubmed link
  • 19  Martinez A, Malone M, Hoeger P, et al. Lipoatrophic panniculitis and chromosome 10 abnormality. Br J Dermatol 2000;142:1034–9. Cross Ref link Pubmed link

Hereditary obesity

  • 20  Hebert JR, Allison DB, Archer E, et al. Scientific decision making, policy decisions, and the obesity pandemic. Mayo Clin Proc 2013;88:593–604. Cross Ref link Pubmed link
  • 21  Shipman AR, Millington GWM. Obesity and the skin. Br J Dermatol 2011;165:743–50. Cross Ref link Pubmed link
  • 22  Millington GWM. Obesity, genetics and the skin. Clin Exp Dermatol 2013;38:50–6. Cross Ref link Pubmed link
  • 23  Beales PL. Obesity in single gene disorders. Prog Mol Biol Transl Sci 2010;94:125–57. Cross Ref link Pubmed link
  • 24  Sabin MA, Werther GA, Kiess W. Genetics of obesity and overgrowth syndromes. Best Pract Res Clin Endocrinol Metab 2011;25:207–20. Cross Ref link Pubmed link
  • 25  Ramachandrappa S, Farooqi IS. Genetic approaches to understanding human obesity. J Clin Invest 2011;121:2080–6. Cross Ref link Pubmed link
  • 26  Klaasens M, Blom EW, Schrander JJP, et al. Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. Br J Dermatol 2009;162:690–4. Cross Ref link Pubmed link

Monogenic obesity with cutaneous features

    Pro‐opiomelanocortin and prohormone convertase 1 deficiency

    • 27  Millington GWM. Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors. Clin Exp Dermatol 2006;31:407–12. Cross Ref link Pubmed link
    • 28  Millington GWM. The role of proopiomelanocortin (POMC) neurones in feeding behaviour. Nutr Metab 2007;4:18. Cross Ref link
    • 29  Meimaridou E, Hughes CR, Kowalczyk J, et al. Familial glucocorticoid deficiency: new genes and mechanisms. Mol Cell Endocrinol 2013;371:195–200. Cross Ref link Pubmed link
    • 30  Shipman AR, Millington GWM. Obesity and the skin. Br J Dermatol 2011;165:743–50. Cross Ref link Pubmed link
    • 31  Ramachandrappa S, Farooqi IS. Genetic approaches to understanding human obesity. J Clin Invest 2011;121:2080–6. Cross Ref link Pubmed link
    • 32  Cirillo G, Marini R, Ito S, et al. Lack of red hair phenotype in a North‐African obese child homozygous for a novel POMC null mutation: nonsense‐mediated decay RNA evaluation and hair pigment chemical analysis. Br J Dermatol 2012;167:1393–5. Cross Ref link Pubmed link

    Prader–Willi syndrome

    • 33  Millington GWM. Genomic imprinting and dermatological disease. Clin Exp Dermatol 2006;31:681–8. Cross Ref link Pubmed link
    • 34  Millington GWM. Epigenetics and dermatological disease. Pharmacogenomics 2008;9:1835–50. Cross Ref link Pubmed link
    • 35  Gabreëls BA, Swaab DF, de Kleijn DP, et al. Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader–Willi patients: indications for a processing defect. J Clin Endocrinol Metab 1998;83:591–9. Cross Ref link Pubmed link
    • 36  Millington GWM. Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors. Clin Exp Dermatol 2006;31:407–12. Cross Ref link Pubmed link
    • 37  Millington GWM. The role of proopiomelanocortin (POMC) neurones in feeding behaviour. Nutr Metab 2007;4:18. Cross Ref link

    Genetic associations with lipoma

    • 38  Gologorsky Y, Gologorsky D, Yarygina AS, et al. Familial multiple lipomatosis: report of a new family. Cutis 2007;79:227–32. Pubmed link
    • 39  Hansson E, Svensson H, Brorson H. Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management. Orphanet J Rare Dis 2012;7:23. Cross Ref link Pubmed link
    • 40  Al Fares A, Millington GWM, Tischkowitz M. Dermatological features of inherited cancer syndromes in adults. Clin Exp Dermatol 2010;35:462–7. Cross Ref link Pubmed link
    • 41  Karalis A, Tischkowitz M, Millington GWM. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol 2011;164:245–56. Cross Ref link Pubmed link
    • 42  Smithson SF, Winter RM. Diagnosis in dysmorphology: clues from the skin. Br J Dermatol 2004;151:953–60. Cross Ref link Pubmed link

    CLOVES syndrome

    • 43  Lindhurst MJ, Parker VE, Payne F, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet 2012;44:928–33. Cross Ref link Pubmed link
    • 44  Kurek KC, Luks VL, Ayturk UM, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 2012;90:1108–15. Cross Ref link Pubmed link
    • 45  Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K‐AKT3‐mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44:941–5. Cross Ref link Pubmed link
    • 46  Rios JJ, Paria N, Burns DK, et al. Somatic gain‐of‐function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet 2013;22:444–51. Cross Ref link Pubmed link
    • 47  Maclellan RA, Luks VL, Vivero MP, et al. PIK3CA activating mutations in facial infiltrating lipomatosis. Plast Reconstr Surg 2014;133:12e–9e. Cross Ref link Pubmed link

    Hereditary panniculitis

    • 48  Lomas DA. Twenty years of polymers: a personal perspective on alpha‐1 antitrypsin deficiency. COPD 2013;10(S1):17–25. Cross Ref link Pubmed link
    • 49  Kanazawa N. Nakajo‐Nishimura syndrome: an autoinflammatory disorder showing pernio‐like rashes and progressive partial lipodystrophy. Allergol Int 2012;61:197–206. Cross Ref link Pubmed link
    • 50  Lev A, Simon AJ, Amariglio N, et al. Thymic functions and gene expression profile distinct double‐negative cells from single positive cells in the autoimmune lymphoproliferative syndrome. Autoimmun Rev 2012;11:723–30. Cross Ref link Pubmed link
    • 51  Chowdhury MM, Williams EJ, Morris JS, et al. Severe panniculitis caused by homozygous ZZ alpha1‐antitrypsin deficiency treated successfully with human purified enzyme (Prolastin). Br J Dermatol 2002;147:1258–61. Cross Ref link Pubmed link
    • 52  Yesudian PD, Dobson CM, Wilson NJ. a1‐Antitrypsin deficiency panniculitis (phenotype PiZZ) precipitated postpartum and successfully treated with dapsone. Br J Dermatol 2004;150:1222–3. Cross Ref link Pubmed link

    Familial lipoedema

    • 53  Bano G, Mansour S, Brice G, et al. Pit‐1 mutation and lipoedema in a family. Exp Clin Endocrinol Diabetes 2010;118:377–80. Cross Ref link Pubmed link
    • 54  Langendoen SI, Habbema L, Nijsten TEC, Neumann HAM. Lipoedema: from clinical presentation to therapy. A review of the literature. Br J Dermatol 2009;161:980–6. Cross Ref link Pubmed link