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Increased facial adipose tissue

MedGen UID:
871372
Concept ID:
C4025868
Finding
Synonyms: Facial fat hyperplasia; Facial fat hypertrophy; Hyperplasia of facial adipose tissue; Hypertrophy of facial adipose tissue; Increased amount of facial adipose tissue; Increased amount of facial fat; Increased volume of facial adipose tissue
 
HPO: HP:0000287

Definition

An increased amount of subcutaneous fat tissue in the face. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased facial adipose tissue

Conditions with this feature

Familial partial lipodystrophy, Kobberling type
MedGen UID:
318591
Concept ID:
C1720859
Disease or Syndrome
Familial partial lipodystrophy type 1 (FPLD1), or Kobberling-type lipodystrophy, is characterized by loss of adipose tissue confined to the extremities, with normal or increased distribution of fat on the face, neck, and trunk (Kobberling and Dunnigan, 1986). For a general description and a discussion of genetic heterogeneity of familial partial lipodystrophy (FPLD), see 151660.
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 A lipodystrophy
MedGen UID:
1757618
Concept ID:
C5399785
Disease or Syndrome
Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480).

Professional guidelines

PubMed

Orly J, Bisdorff A, Fraissenon A, Joly A, Boulouis G, Guibaud L, Tavernier E, Mallet S, Marcelin C, Miquel J, Martin L, Droitcourt C, Gusdorf L, Abasq C, Dadban A, Chiaverini C, Vabres P, Herbreteau D, Boccara O, Wassef M, Maruani A
Eur J Radiol 2023 Aug;165:110962. Epub 2023 Jul 4 doi: 10.1016/j.ejrad.2023.110962. PMID: 37423018
Strong AL, Rubin JP, Kozlow JH, Cederna PS
Plast Reconstr Surg 2019 Dec;144(6):1498-1507. doi: 10.1097/PRS.0000000000006291. PMID: 31764674
Neeland IJ, Poirier P, Després JP
Circulation 2018 Mar 27;137(13):1391-1406. doi: 10.1161/CIRCULATIONAHA.117.029617. PMID: 29581366Free PMC Article

Recent clinical studies

Etiology

Moellhoff N, Kuhlmann C, Frank K, Kim BS, Conte F, Cotofana S, Piccolo NS, Pallua N
Aesthetic Plast Surg 2023 Dec;47(6):2771-2787. Epub 2023 Aug 10 doi: 10.1007/s00266-023-03511-y. PMID: 37563433Free PMC Article
Neeland IJ, Poirier P, Després JP
Circulation 2018 Mar 27;137(13):1391-1406. doi: 10.1161/CIRCULATIONAHA.117.029617. PMID: 29581366Free PMC Article
Rocco N, Catanuto G, Nava MB
Minerva Chir 2018 Jun;73(3):322-328. Epub 2018 Jan 23 doi: 10.23736/S0026-4733.18.07615-0. PMID: 29366315
Cotofana S, Fratila AA, Schenck TL, Redka-Swoboda W, Zilinsky I, Pavicic T
Facial Plast Surg 2016 Jun;32(3):253-60. Epub 2016 Jun 1 doi: 10.1055/s-0036-1582234. PMID: 27248022
Spritzer PM, Lecke SB, Satler F, Morsch DM
Reproduction 2015 May;149(5):R219-27. Epub 2015 Jan 27 doi: 10.1530/REP-14-0435. PMID: 25628442

Diagnosis

Halloun R, Galderisi A, Caprio S, Weiss R
J Clin Endocrinol Metab 2023 Apr 13;108(5):1053-1060. doi: 10.1210/clinem/dgac700. PMID: 36469736Free PMC Article
Strong AL, Rubin JP, Kozlow JH, Cederna PS
Plast Reconstr Surg 2019 Dec;144(6):1498-1507. doi: 10.1097/PRS.0000000000006291. PMID: 31764674
Neeland IJ, Poirier P, Després JP
Circulation 2018 Mar 27;137(13):1391-1406. doi: 10.1161/CIRCULATIONAHA.117.029617. PMID: 29581366Free PMC Article
Padwa BL, Mulliken JB
Plast Reconstr Surg 2001 Nov;108(6):1544-54. doi: 10.1097/00006534-200111000-00017. PMID: 11711926
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Moellhoff N, Kuhlmann C, Frank K, Kim BS, Conte F, Cotofana S, Piccolo NS, Pallua N
Aesthetic Plast Surg 2023 Dec;47(6):2771-2787. Epub 2023 Aug 10 doi: 10.1007/s00266-023-03511-y. PMID: 37563433Free PMC Article
Gupta J, Kassir M, Kroumpouzos G, Katsambas A, Galadari H, Lotti T, Wollina U, Grabbe S, Goldust M
J Drugs Dermatol 2021 Nov 1;20(11):1169-1173. doi: 10.36849/jdd.3936. PMID: 34784130
Wollina U, Brzezinski P
Dermatol Ther 2019 Jul;32(4):e12623. Epub 2018 Sep 4 doi: 10.1111/dth.12623. PMID: 30182495
Neeland IJ, Poirier P, Després JP
Circulation 2018 Mar 27;137(13):1391-1406. doi: 10.1161/CIRCULATIONAHA.117.029617. PMID: 29581366Free PMC Article
Rocco N, Catanuto G, Nava MB
Minerva Chir 2018 Jun;73(3):322-328. Epub 2018 Jan 23 doi: 10.23736/S0026-4733.18.07615-0. PMID: 29366315

Prognosis

Matos S, Johnson MD
Facial Plast Surg Clin North Am 2024 Feb;32(1):1-12. doi: 10.1016/j.fsc.2023.06.008. PMID: 37981406
Halloun R, Galderisi A, Caprio S, Weiss R
J Clin Endocrinol Metab 2023 Apr 13;108(5):1053-1060. doi: 10.1210/clinem/dgac700. PMID: 36469736Free PMC Article
Ugwoke CK, Cvetko E, Umek N
Int J Mol Sci 2022 Oct 6;23(19) doi: 10.3390/ijms231911843. PMID: 36233143Free PMC Article
Azoury SC, Shakir S, Bucky LP, Percec I
Plast Reconstr Surg 2021 Oct 1;148(4):620e-633e. doi: 10.1097/PRS.0000000000008405. PMID: 34550946
Strong AL, Rubin JP, Kozlow JH, Cederna PS
Plast Reconstr Surg 2019 Dec;144(6):1498-1507. doi: 10.1097/PRS.0000000000006291. PMID: 31764674

Clinical prediction guides

Halloun R, Galderisi A, Caprio S, Weiss R
J Clin Endocrinol Metab 2023 Apr 13;108(5):1053-1060. doi: 10.1210/clinem/dgac700. PMID: 36469736Free PMC Article
Ugwoke CK, Cvetko E, Umek N
Int J Mol Sci 2022 Oct 6;23(19) doi: 10.3390/ijms231911843. PMID: 36233143Free PMC Article
Azoury SC, Shakir S, Bucky LP, Percec I
Plast Reconstr Surg 2021 Oct 1;148(4):620e-633e. doi: 10.1097/PRS.0000000000008405. PMID: 34550946
Wollina U, Brzezinski P
Dermatol Ther 2019 Jul;32(4):e12623. Epub 2018 Sep 4 doi: 10.1111/dth.12623. PMID: 30182495
Tonnard P, Verpaele A, Peeters G, Hamdi M, Cornelissen M, Declercq H
Plast Reconstr Surg 2013 Oct;132(4):1017-1026. doi: 10.1097/PRS.0b013e31829fe1b0. PMID: 23783059

Recent systematic reviews

Moellhoff N, Kuhlmann C, Frank K, Kim BS, Conte F, Cotofana S, Piccolo NS, Pallua N
Aesthetic Plast Surg 2023 Dec;47(6):2771-2787. Epub 2023 Aug 10 doi: 10.1007/s00266-023-03511-y. PMID: 37563433Free PMC Article
Schipper JAM, Vriend L, Tuin AJ, Dijkstra PU, Schepers RH, van der Lei B, Jansma J, Harmsen MC
Aesthet Surg J 2022 Dec 14;42(12):NP711-NP727. doi: 10.1093/asj/sjac122. PMID: 35576617Free PMC Article
Kagota S, Maruyama K, McGuire JJ
Biomed Res Int 2016;2016:3130496. Epub 2016 Feb 23 doi: 10.1155/2016/3130496. PMID: 27006943Free PMC Article
Huang S, Zhao W, Wang Z, Tao K, Liu X, Chang P
Mol Med Rep 2016 Feb;13(2):1063-9. Epub 2015 Dec 14 doi: 10.3892/mmr.2015.4682. PMID: 26677061Free PMC Article
Lazzeri D, Agostini T, Figus M, Nardi M, Pantaloni M, Lazzeri S
Plast Reconstr Surg 2012 Apr;129(4):995-1012. doi: 10.1097/PRS.0b013e3182442363. PMID: 22456369

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