U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Lipoatrophy

MedGen UID:
488959
Concept ID:
C1280433
Disease or Syndrome
Synonyms: Atrophy of fat; Loss of fat tissue in localised area; Loss of fat tissue in localized area
SNOMED CT: Lipoatrophy (248315005)
 
HPO: HP:0100578

Definition

Localized loss of fat tissue. [from HPO]

Term Hierarchy

Conditions with this feature

Neonatal pseudo-hydrocephalic progeroid syndrome
MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
SHORT syndrome
MedGen UID:
164212
Concept ID:
C0878684
Disease or Syndrome
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay. It is now recognized that the features most consistently observed in SHORT syndrome are mild intrauterine growth restriction (IUGR); mild to moderate short stature; partial lipodystrophy (evident in the face, and later in the chest and upper extremities, often sparing the buttocks and legs); and a characteristic facial gestalt. Insulin resistance may be evident in mid-childhood or adolescence, although diabetes mellitus typically does not develop until early adulthood. Other frequent features include Axenfeld-Rieger anomaly or related ocular anterior chamber dysgenesis, delayed dentition and other dental issues, and sensorineural hearing loss.
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
Nestor-Guillermo progeria syndrome
MedGen UID:
462796
Concept ID:
C3151446
Disease or Syndrome
Nestor-Guillermo progeria syndrome (NGPS) is an autosomal recessive disorder characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life. Onset is after 2 years of age, and lifespan is relatively long (summary by Cabanillas et al., 2011).
Progeroid and marfanoid aspect-lipodystrophy syndrome
MedGen UID:
934763
Concept ID:
C4310796
Disease or Syndrome
The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development (Takenouchi et al., 2013). Takenouchi et al. (2013) noted phenotypic overlap with Marfan syndrome (154700) and Shprintzen-Goldberg craniosynostosis syndrome (182212).
PLIN1-related familial partial lipodystrophy
MedGen UID:
1675945
Concept ID:
C5191005
Disease or Syndrome
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011). Other features may include hepatic steatosis, acanthosis nigricans, polycystic ovary syndrome, and renal disease (summary by Chen et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.

Professional guidelines

PubMed

Bahman F, Greish K, Taurin S
Pharm Nanotechnol 2019;7(2):113-128. doi: 10.2174/2211738507666190321110721. PMID: 30907328
Finkelstein JL, Gala P, Rochford R, Glesby MJ, Mehta S
J Int AIDS Soc 2015;18(1):19033. Epub 2015 Jan 15 doi: 10.7448/IAS.18.1.19033. PMID: 25598476Free PMC Article
Tungsiripat M, McComsey G
Curr HIV/AIDS Rep 2008 May;5(2):55-63. doi: 10.1007/s11904-008-0010-8. PMID: 18510890

Recent clinical studies

Etiology

Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Sorkina E, Chichkova V
Presse Med 2021 Nov;50(3):104075. Epub 2021 Sep 22 doi: 10.1016/j.lpm.2021.104075. PMID: 34562560
Koethe JR, Lagathu C, Lake JE, Domingo P, Calmy A, Falutz J, Brown TT, Capeau J
Nat Rev Dis Primers 2020 Jun 18;6(1):48. doi: 10.1038/s41572-020-0181-1. PMID: 32555389
Dinulos JG
Curr Opin Pediatr 2011 Aug;23(4):395-8. doi: 10.1097/MOP.0b013e328348112d. PMID: 21670683
James J, Carruthers A, Carruthers J
Dermatol Surg 2002 Nov;28(11):979-86. doi: 10.1046/j.1524-4725.2002.02099.x. PMID: 12460289

Diagnosis

Dupuis H, Lemaitre M, Jannin A, Douillard C, Espiard S, Vantyghem MC
Ann Endocrinol (Paris) 2024 Jun;85(3):231-247. Epub 2024 Jun 12 doi: 10.1016/j.ando.2024.05.003. PMID: 38871514
Lemaitre M, Chevalier B, Jannin A, Bourry J, Espiard S, Vantyghem MC
Presse Med 2021 Nov;50(3):104077. Epub 2021 Oct 21 doi: 10.1016/j.lpm.2021.104077. PMID: 34687914
Sorkina E, Chichkova V
Presse Med 2021 Nov;50(3):104075. Epub 2021 Sep 22 doi: 10.1016/j.lpm.2021.104075. PMID: 34562560
Wortsman X, Ferreira-Wortsman C
J Ultrasound Med 2021 Aug;40(8):1675-1692. Epub 2020 Nov 6 doi: 10.1002/jum.15550. PMID: 33155699
Lima AL, Illing T, Schliemann S, Elsner P
Am J Clin Dermatol 2017 Aug;18(4):541-553. doi: 10.1007/s40257-017-0275-z. PMID: 28374407

Therapy

Guida S, Galadari H
Int J Dermatol 2024 Feb;63(2):150-160. Epub 2023 Oct 28 doi: 10.1111/ijd.16888. PMID: 37897174
Guarneri AM, Hoffman RP
Curr Diabetes Rev 2022;18(2):e012821190877. doi: 10.2174/1573399817666210129104420. PMID: 33511950
Lee JC, Lorenc ZP
Clin Plast Surg 2016 Jul;43(3):497-503. doi: 10.1016/j.cps.2016.03.002. PMID: 27363763
Dinulos JG
Curr Opin Pediatr 2011 Aug;23(4):395-8. doi: 10.1097/MOP.0b013e328348112d. PMID: 21670683
James J, Carruthers A, Carruthers J
Dermatol Surg 2002 Nov;28(11):979-86. doi: 10.1046/j.1524-4725.2002.02099.x. PMID: 12460289

Prognosis

Guitart J, Mangold AR, Martinez-Escala ME, Walker CJ, Comfere NI, Pulitzer M, Rieger KE, Torres-Cabala CA, Pincus LB, Kumar ES, Wang EBK, Park KE, Espinosa ML, Duvic M, Kim YH, Horwitz S
JAMA Dermatol 2022 Oct 1;158(10):1167-1174. doi: 10.1001/jamadermatol.2022.3347. PMID: 36001337Free PMC Article
Mirza FS, Luthra P, Chirch L
J Endocrinol Invest 2018 Aug;41(8):881-899. Epub 2018 Jan 8 doi: 10.1007/s40618-017-0812-x. PMID: 29313284
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960
Esser S, Helbig D, Hillen U, Dissemond J, Grabbe S
J Dtsch Dermatol Ges 2007 Sep;5(9):745-54. doi: 10.1111/j.1610-0387.2007.06322.x. PMID: 17760894
Ahmed I, Goldstein B
Clin Dermatol 2006 Jul-Aug;24(4):237-46. doi: 10.1016/j.clindermatol.2006.04.009. PMID: 16828404

Clinical prediction guides

Guitart J, Mangold AR, Martinez-Escala ME, Walker CJ, Comfere NI, Pulitzer M, Rieger KE, Torres-Cabala CA, Pincus LB, Kumar ES, Wang EBK, Park KE, Espinosa ML, Duvic M, Kim YH, Horwitz S
JAMA Dermatol 2022 Oct 1;158(10):1167-1174. doi: 10.1001/jamadermatol.2022.3347. PMID: 36001337Free PMC Article
Wortsman X, Ferreira-Wortsman C
J Ultrasound Med 2021 Aug;40(8):1675-1692. Epub 2020 Nov 6 doi: 10.1002/jum.15550. PMID: 33155699
Arai Y, Takayama M, Abe Y, Hirose N
J Atheroscler Thromb 2011;18(7):545-50. Epub 2011 May 7 doi: 10.5551/jat.7039. PMID: 21551960
Perry CM
Am J Clin Dermatol 2004;5(5):361-6; discussion 367-8. doi: 10.2165/00128071-200405050-00010. PMID: 15554738
Toyota T, Umezu M, Oikawa N, Sanoyama R, Suzuki S, Suzuki H, Nakajima Y, Goto Y
Tohoku J Exp Med 1983 Dec;141(4):457-61. doi: 10.1620/tjem.141.457. PMID: 6670101

Recent systematic reviews

Guida S, Galadari H
Int J Dermatol 2024 Feb;63(2):150-160. Epub 2023 Oct 28 doi: 10.1111/ijd.16888. PMID: 37897174
Ho D, Jagdeo J
J Drugs Dermatol 2015 Sep;14(9):934-40. PMID: 26355610
de Waal R, Cohen K, Maartens G
PLoS One 2013;8(5):e63623. Epub 2013 May 28 doi: 10.1371/journal.pone.0063623. PMID: 23723990Free PMC Article
Balak DM, Hengstman GJ, Çakmak A, Thio HB
Mult Scler 2012 Dec;18(12):1705-17. Epub 2012 Feb 27 doi: 10.1177/1352458512438239. PMID: 22371220
Sturm LP, Cooter RD, Mutimer KL, Graham JC, Maddern GJ
AIDS Patient Care STDS 2009 Sep;23(9):699-714. doi: 10.1089/apc.2008.0230. PMID: 19673594

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...