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Loss of truncal subcutaneous adipose tissue

MedGen UID:
331962
Concept ID:
C1835384
Finding
Synonyms: Loss of subcutaneous truncal adipose tissue; Loss of truncal adipose tissue
 
HPO: HP:0009002

Definition

Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of truncal subcutaneous adipose tissue

Conditions with this feature

Familial partial lipodystrophy, Dunnigan type
MedGen UID:
354526
Concept ID:
C1720860
Disease or Syndrome
Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. Affected individuals gradually lose fat from the upper and lower extremities and the gluteal and truncal regions, resulting in a muscular appearance with prominent superficial veins. In some patients, adipose tissue accumulates on the face and neck, causing a double chin, fat neck, or cushingoid appearance. Metabolic abnormalities include insulin-resistant diabetes mellitus with acanthosis nigricans and hypertriglyceridemia; hirsutism and menstrual abnormalities occur infrequently. Familial partial lipodystrophy may also be referred to as lipoatrophic diabetes mellitus, but the essential feature is loss of subcutaneous fat (review by Garg, 2004). The disorder may be misdiagnosed as Cushing disease (see 219080) (Kobberling and Dunnigan, 1986; Garg, 2004). Genetic Heterogeneity of Familial Partial Lipodystrophy Familial partial lipodystrophy is a clinically and genetically heterogeneous disorder. Types 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), and FPLD2, characterized by loss of subcutaneous fat from the limbs and trunk (Dunnigan et al., 1974; Kobberling and Dunnigan, 1986). No genetic basis for FPLD1 has yet been delineated. FPLD3 (604367) is caused by mutation in the PPARG gene (601487) on chromosome 3p25; FPLD4 (613877) is caused by mutation in the PLIN1 gene (170290) on chromosome 15q26; FPLD5 (615238) is caused by mutation in the CIDEC gene (612120) on chromosome 3p25; FPLD6 (615980) is caused by mutation in the LIPE gene (151750) on chromosome 19q13; FPLD7 (606721) is caused by mutation in the CAV1 gene (601047) on chromosome 7q31; FPLD8 (620679), caused by mutation in the ADRA2A gene (104210) on chromosome 10q25; and FPLD9 (620683), caused by mutation in the PLAAT3 gene (613867) on chromosome 11q12.
Mandibuloacral dysplasia with type B lipodystrophy
MedGen UID:
332940
Concept ID:
C1837756
Disease or Syndrome
Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370).
Lipodystrophy, partial, acquired, susceptibility to
MedGen UID:
854363
Concept ID:
C3887501
Finding
An inherited susceptibility or predisposition to developing acquired partial lipodystrophy.

Recent clinical studies

Etiology

Mínguez-Alarcón L, Rifas-Shiman SL, Sordillo JE, Aris IM, Wu AJ, Hivert MF, Oken E, Chavarro JE
JAMA Netw Open 2021 Oct 1;4(10):e2125161. doi: 10.1001/jamanetworkopen.2021.25161. PMID: 34623410Free PMC Article
Levy S, Gomes FR, Sterodimas A
Aesthetic Plast Surg 2011 Oct;35(5):814-9. Epub 2011 Apr 1 doi: 10.1007/s00266-011-9701-4. PMID: 21461626
Oktem O, Kucuk M, Ozer K, Sezen D, Durmusoglu F
Gynecol Endocrinol 2010 Jun;26(6):440-4. doi: 10.3109/09513591003632209. PMID: 20175708
Dini M, Mori A, Cassi LC, Lo Russo G, Lucchese M
Obes Surg 2008 Nov;18(11):1392-9. Epub 2008 May 7 doi: 10.1007/s11695-008-9498-7. PMID: 18461422
Lev-Ran A
Diabetes Metab Res Rev 2001 Sep-Oct;17(5):347-62. doi: 10.1002/dmrr.230. PMID: 11747140

Diagnosis

Vasandani C, Li X, Sekizkardes H, Adams-Huet B, Brown RJ, Garg A
J Clin Endocrinol Metab 2020 Jul 1;105(7):2132-41. doi: 10.1210/clinem/dgaa137. PMID: 32193531Free PMC Article
Colleluori G, Aguirre LE, Qualls C, Chen R, Napoli N, Villareal DT, Armamento-Villareal R
Nutrients 2018 Sep 4;10(9) doi: 10.3390/nu10091226. PMID: 30181488Free PMC Article
Iwanishi M, Ito-Kobayashi J, Washiyama M, Kusakabe T, Ebihara K
Intern Med 2018 Aug 15;57(16):2301-2313. Epub 2018 Mar 30 doi: 10.2169/internalmedicine.0225-17. PMID: 29607946Free PMC Article
Attallah H, Friedlander AL, Hoffman AR
Growth Horm IGF Res 2006 Jul;16 Suppl A:S62-7. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.004. PMID: 16624603
Lev-Ran A
Diabetes Metab Res Rev 2001 Sep-Oct;17(5):347-62. doi: 10.1002/dmrr.230. PMID: 11747140

Therapy

Ackermans LLGC, Volmer L, Timmermans QMMA, Brecheisen R, Damink SMWO, Dekker A, Loeffen D, Poeze M, Blokhuis TJ, Wee L, Ten Bosch JA
Injury 2022 Nov;53 Suppl 3:S30-S41. Epub 2022 Jun 2 doi: 10.1016/j.injury.2022.05.004. PMID: 35680433
Mínguez-Alarcón L, Rifas-Shiman SL, Sordillo JE, Aris IM, Wu AJ, Hivert MF, Oken E, Chavarro JE
JAMA Netw Open 2021 Oct 1;4(10):e2125161. doi: 10.1001/jamanetworkopen.2021.25161. PMID: 34623410Free PMC Article
Martínez E
Best Pract Res Clin Endocrinol Metab 2011 Jun;25(3):415-27. doi: 10.1016/j.beem.2010.10.019. PMID: 21663836
Diehl LA, Fabris BA, Barbosa DS, De Faria EC, Wiechmann SL, Carrilho AJ
AIDS Patient Care STDS 2008 Oct;22(10):779-86. doi: 10.1089/apc.2008.0012. PMID: 18800870
Attallah H, Friedlander AL, Hoffman AR
Growth Horm IGF Res 2006 Jul;16 Suppl A:S62-7. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.004. PMID: 16624603

Prognosis

Levy S, Gomes FR, Sterodimas A
Aesthetic Plast Surg 2011 Oct;35(5):814-9. Epub 2011 Apr 1 doi: 10.1007/s00266-011-9701-4. PMID: 21461626
Schautz B, Later W, Heller M, Müller MJ, Bosy-Westphal A
Eur J Clin Nutr 2011 Jul;65(7):784-90. Epub 2011 Mar 23 doi: 10.1038/ejcn.2011.35. PMID: 21427743
Dini M, Mori A, Cassi LC, Lo Russo G, Lucchese M
Obes Surg 2008 Nov;18(11):1392-9. Epub 2008 May 7 doi: 10.1007/s11695-008-9498-7. PMID: 18461422
Attallah H, Friedlander AL, Hoffman AR
Growth Horm IGF Res 2006 Jul;16 Suppl A:S62-7. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.004. PMID: 16624603
Lev-Ran A
Diabetes Metab Res Rev 2001 Sep-Oct;17(5):347-62. doi: 10.1002/dmrr.230. PMID: 11747140

Clinical prediction guides

Mínguez-Alarcón L, Rifas-Shiman SL, Sordillo JE, Aris IM, Wu AJ, Hivert MF, Oken E, Chavarro JE
JAMA Netw Open 2021 Oct 1;4(10):e2125161. doi: 10.1001/jamanetworkopen.2021.25161. PMID: 34623410Free PMC Article
Schautz B, Later W, Heller M, Müller MJ, Bosy-Westphal A
Eur J Clin Nutr 2011 Jul;65(7):784-90. Epub 2011 Mar 23 doi: 10.1038/ejcn.2011.35. PMID: 21427743
Guettier JM, Park JY, Cochran EK, Poitou C, Basdevant A, Meier M, Clément K, Magré J, Gorden P
Clin Endocrinol (Oxf) 2008 Apr;68(4):547-554. Epub 2007 Dec 10 doi: 10.1111/j.1365-2265.2007.03095.x. PMID: 18076675Free PMC Article
Attallah H, Friedlander AL, Hoffman AR
Growth Horm IGF Res 2006 Jul;16 Suppl A:S62-7. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.004. PMID: 16624603
Lev-Ran A
Diabetes Metab Res Rev 2001 Sep-Oct;17(5):347-62. doi: 10.1002/dmrr.230. PMID: 11747140

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