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Progressive loss of facial adipose tissue

MedGen UID:
332468
Concept ID:
C1837510
Finding
Synonym: Loss of subcutaneous adipose tissue from face, progressive
 
HPO: HP:0009019

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive loss of facial adipose tissue

Conditions with this feature

Lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis
MedGen UID:
462697
Concept ID:
C3151347
Disease or Syndrome
Acquired partial lipodystrophy (APLD) is characterized clinically by the gradual onset of bilaterally symmetrical loss of subcutaneous fat from the face, neck, upper extremities, thorax, and abdomen, in the 'cephalocaudal' sequence, sparing the lower extremities. A large group of patients (83%) with acquired partial lipodystrophy have low serum levels of complement component C3 due to the presence of C3 nephritic factor, an IgG antibody that causes continuous activation of the alternative complement pathway and consumption of serum C3. About 22% of patients with this acquired complement defect develop membranoproliferative glomerulonephritis. Some individuals may also show an increased risk of infection (Misra et al., 2004). Acquired partial lipodystrophy is not inherited in a classic mendelian pattern; it rather represents a phenotype with a complex etiology. Affected individuals may have genetic susceptibility factors that require the additional presence of environmental factors or acquired disorders to be expressed (summary by Hegele et al., 2006). Most cases are sporadic, family history is negative, and females are more often affected than males (ratio, 4:1) (summary by Misra et al., 2004). See 608709 for a subtype of APLD not associated with low complement C3 or renal disease.
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

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Sutherland K, Lee RW, Phillips CL, Dungan G, Yee BJ, Magnussen JS, Grunstein RR, Cistulli PA
Thorax 2011 Sep;66(9):797-803. Epub 2011 Jun 15 doi: 10.1136/thx.2010.151613. PMID: 21680567
Coleman S, Saboeiro A, Sengelmann R
Aesthetic Plast Surg 2009 Jan;33(1):14-21. Epub 2008 Nov 6 doi: 10.1007/s00266-008-9258-z. PMID: 18987910
Mallewa JE, Wilkins E, Vilar J, Mallewa M, Doran D, Back D, Pirmohamed M
J Antimicrob Chemother 2008 Oct;62(4):648-60. Epub 2008 Jun 18 doi: 10.1093/jac/dkn251. PMID: 18565973
Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M
Am J Med Genet A 2008 Jun 1;146A(11):1423-9. doi: 10.1002/ajmg.a.32309. PMID: 18446857

Diagnosis

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Bachman Groth JA, Harris GJ
Optom Vis Sci 2021 Apr 1;98(4):409-417. doi: 10.1097/OPX.0000000000001667. PMID: 33852556
Falcao CK, Cabral MCS, Mota JM, Arbache ST, Costa-Riquetto AD, Muniz DQB, Cury-Martins J, Almeida MQ, Kaczemorska PC, Nery M, Teles MG
J Clin Endocrinol Metab 2019 Aug 1;104(8):3245-3248. doi: 10.1210/jc.2018-02221. PMID: 30779841
Oliveira J, Freitas P, Lau E, Carvalho D
BMC Res Notes 2016 Mar 18;9:175. doi: 10.1186/s13104-016-1975-9. PMID: 26987365Free PMC Article
Krawiec P, Mełges B, Pac-Kożuchowska E, Mroczkowska-Juchkiewicz A, Czerska K
BMC Pediatr 2016 Mar 14;16:38. doi: 10.1186/s12887-016-0581-2. PMID: 26976018Free PMC Article

Therapy

Svolacchia L, Prisco C, Giuzio F, Svolacchia F
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111692. PMID: 36422231Free PMC Article
Bachman Groth JA, Harris GJ
Optom Vis Sci 2021 Apr 1;98(4):409-417. doi: 10.1097/OPX.0000000000001667. PMID: 33852556
Fitzgerald R, Vleggaar D
J Drugs Dermatol 2009 Oct;8(10 Suppl):s5-14. PMID: 19891116
Coleman S, Saboeiro A, Sengelmann R
Aesthetic Plast Surg 2009 Jan;33(1):14-21. Epub 2008 Nov 6 doi: 10.1007/s00266-008-9258-z. PMID: 18987910
Mallewa JE, Wilkins E, Vilar J, Mallewa M, Doran D, Back D, Pirmohamed M
J Antimicrob Chemother 2008 Oct;62(4):648-60. Epub 2008 Jun 18 doi: 10.1093/jac/dkn251. PMID: 18565973

Prognosis

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Oliveira J, Freitas P, Lau E, Carvalho D
BMC Res Notes 2016 Mar 18;9:175. doi: 10.1186/s13104-016-1975-9. PMID: 26987365Free PMC Article
Nabrdalik K, Strózik A, Minkina-Pędras M, Jarosz-Chobot P, Młynarski W, Grzeszczak W, Gumprecht J
Endokrynol Pol 2013;64(4):306-11. doi: 10.5603/ep.2013.0010. PMID: 24002959
Sutherland K, Lee RW, Phillips CL, Dungan G, Yee BJ, Magnussen JS, Grunstein RR, Cistulli PA
Thorax 2011 Sep;66(9):797-803. Epub 2011 Jun 15 doi: 10.1136/thx.2010.151613. PMID: 21680567

Clinical prediction guides

Magno S, Ceccarini G, Corvillo F, Pelosini C, Gilio D, Paoli M, Fornaciari S, Pandolfo G, Sanchez-Iglesias S, Nozal P, Curcio M, Sessa MR, López-Trascasa M, Araújo-Vilar D, Santini F
J Clin Endocrinol Metab 2024 Feb 20;109(3):e932-e944. doi: 10.1210/clinem/dgad700. PMID: 38061004
Svolacchia L, Prisco C, Giuzio F, Svolacchia F
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111692. PMID: 36422231Free PMC Article
Cohen SR, Wesson J, Willens S, Nadeau T, Hillman C, Dobke M, Tiryaki T
Aesthet Surg J 2022 Mar 15;42(4):327-339. doi: 10.1093/asj/sjab379. PMID: 34724035
Falcao CK, Cabral MCS, Mota JM, Arbache ST, Costa-Riquetto AD, Muniz DQB, Cury-Martins J, Almeida MQ, Kaczemorska PC, Nery M, Teles MG
J Clin Endocrinol Metab 2019 Aug 1;104(8):3245-3248. doi: 10.1210/jc.2018-02221. PMID: 30779841

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