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Loss of facial adipose tissue

MedGen UID:
325251
Concept ID:
C1837767
Finding
Synonyms: Loss of facial subcutaneous adipose tissue; Loss of subcutaneous adipose tissue from face
 
HPO: HP:0000292

Definition

Loss of normal subcutaneous fat tissue in the face. [from HPO]

Term Hierarchy

Conditions with this feature

Cockayne syndrome type 2
MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
Cockayne syndrome type 1
MedGen UID:
155488
Concept ID:
C0751039
Disease or Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal (COFS) syndrome; CS type III, a milder and later-onset form; COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).
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, 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.
Proteasome-associated autoinflammatory syndrome 1
MedGen UID:
1648310
Concept ID:
C4746851
Disease or Syndrome
This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011). This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory Syndrome See also PRAAS2 (618048), caused by mutation in the POMP gene (613386) on chromosome 13q12; PRAAS3 (617591), caused by mutation in the PSMB4 gene (602177) on chromosome 1q21; PRAAS4 (619183), caused by mutation in the PSMG2 gene (609702) on chromosome 18p11; and PRAAS5 (619175), caused by mutation in the PSMB10 gene (176847) on chromosome 16q22.

Professional guidelines

PubMed

Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Cederholm T, Bosaeus I, Barazzoni R, Bauer J, Van Gossum A, Klek S, Muscaritoli M, Nyulasi I, Ockenga J, Schneider SM, de van der Schueren MA, Singer P
Clin Nutr 2015 Jun;34(3):335-40. Epub 2015 Mar 9 doi: 10.1016/j.clnu.2015.03.001. PMID: 25799486
Villarroya F, Domingo P, Giralt M
Biochim Biophys Acta 2010 Mar;1801(3):392-9. Epub 2009 Sep 30 doi: 10.1016/j.bbalip.2009.09.018. PMID: 19800025

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
Bailin SS, Koethe JR
Curr HIV/AIDS Rep 2023 Feb;20(1):9-18. Epub 2022 Nov 23 doi: 10.1007/s11904-022-00642-w. PMID: 36418528Free PMC Article
Gold MH, Andriessen A, Day D, Dayan SH, Fabi SG, Goldberg DJ, Kaufman J, Lorenc ZP, Mandy SH
J Cosmet Dermatol 2020 Oct;19(10):2476-2483. Epub 2020 Sep 4 doi: 10.1111/jocd.13680. PMID: 32799386
Şovrea AS, Boşca AB, Constantin AM, Dronca E, Ilea A
Rom J Morphol Embryol 2019;60(1):7-31. PMID: 31263824
Cederholm T, Bosaeus I, Barazzoni R, Bauer J, Van Gossum A, Klek S, Muscaritoli M, Nyulasi I, Ockenga J, Schneider SM, de van der Schueren MA, Singer P
Clin Nutr 2015 Jun;34(3):335-40. Epub 2015 Mar 9 doi: 10.1016/j.clnu.2015.03.001. PMID: 25799486

Diagnosis

Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Cederholm T, Bosaeus I, Barazzoni R, Bauer J, Van Gossum A, Klek S, Muscaritoli M, Nyulasi I, Ockenga J, Schneider SM, de van der Schueren MA, Singer P
Clin Nutr 2015 Jun;34(3):335-40. Epub 2015 Mar 9 doi: 10.1016/j.clnu.2015.03.001. PMID: 25799486
Sah RP, Nagpal SJ, Mukhopadhyay D, Chari ST
Nat Rev Gastroenterol Hepatol 2013 Jul;10(7):423-33. Epub 2013 Mar 26 doi: 10.1038/nrgastro.2013.49. PMID: 23528347Free PMC Article
Dibernardo BE
J Cosmet Laser Ther 2013 Apr;15(2):56-64. Epub 2013 Mar 6 doi: 10.3109/14764172.2012.758383. PMID: 23464846
Garg A
Am J Med 2000 Feb;108(2):143-52. doi: 10.1016/s0002-9343(99)00414-3. PMID: 11126308

Therapy

Muscogiuri G, Verde L, Vetrani C, Barrea L, Savastano S, Colao A
J Endocrinol Invest 2024 Feb;47(2):299-306. Epub 2023 Sep 23 doi: 10.1007/s40618-023-02196-z. PMID: 37740888Free PMC Article
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
Crowley JS, Kream E, Fabi S, Cohen SR
Aesthet Surg J 2021 May 18;41(Suppl 1):S31-S38. doi: 10.1093/asj/sjab014. PMID: 34002771
Wollina U, Goldman A
Dermatol Ther 2020 Nov;33(6):e14285. Epub 2020 Sep 18 doi: 10.1111/dth.14285. PMID: 32902108
Maamari RN, Massry GG, Holds JB
Facial Plast Surg Clin North Am 2019 Nov;27(4):435-441. Epub 2019 Aug 30 doi: 10.1016/j.fsc.2019.07.001. PMID: 31587763

Prognosis

Muscogiuri G, Verde L, Vetrani C, Barrea L, Savastano S, Colao A
J Endocrinol Invest 2024 Feb;47(2):299-306. Epub 2023 Sep 23 doi: 10.1007/s40618-023-02196-z. PMID: 37740888Free PMC Article
Cohen SR, Hewett S, Baraf P, Crowley SJ, Atlan M
Aesthet Surg J 2021 May 18;41(6):641-651. doi: 10.1093/asj/sjaa213. PMID: 32722753
Barnes CH, Maas CS
Facial Plast Surg Clin North Am 2019 Aug;27(3):419-423. doi: 10.1016/j.fsc.2019.04.009. PMID: 31280857
Rabach LA, Glasgold RA, Lam SM, Glasgold MJ
Facial Plast Surg Clin North Am 2015 May;23(2):221-31. doi: 10.1016/j.fsc.2015.01.008. PMID: 25921572
Chen HH, Williams EF
Curr Opin Otolaryngol Head Neck Surg 2011 Aug;19(4):289-94. doi: 10.1097/MOO.0b013e32834896a0. PMID: 21659877

Clinical prediction guides

Muscogiuri G, Verde L, Vetrani C, Barrea L, Savastano S, Colao A
J Endocrinol Invest 2024 Feb;47(2):299-306. Epub 2023 Sep 23 doi: 10.1007/s40618-023-02196-z. PMID: 37740888Free PMC Article
Barnes CH, Maas CS
Facial Plast Surg Clin North Am 2019 Aug;27(3):419-423. doi: 10.1016/j.fsc.2019.04.009. PMID: 31280857
Şovrea AS, Boşca AB, Constantin AM, Dronca E, Ilea A
Rom J Morphol Embryol 2019;60(1):7-31. PMID: 31263824
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Rabach LA, Glasgold RA, Lam SM, Glasgold MJ
Facial Plast Surg Clin North Am 2015 May;23(2):221-31. doi: 10.1016/j.fsc.2015.01.008. PMID: 25921572

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
Fernandez-Pombo A, Diaz-Lopez EJ, Castro AI, Sanchez-Iglesias S, Cobelo-Gomez S, Prado-Moraña T, Araujo-Vilar D
Cells 2023 Feb 24;12(5) doi: 10.3390/cells12050725. PMID: 36899861Free PMC Article
Gupta N, Asi N, Farah W, Almasri J, Barrionuevo P, Alsawas M, Wang Z, Haymond MW, Brown RJ, Murad MH
J Clin Endocrinol Metab 2017 Feb 1;102(2):363-374. doi: 10.1210/jc.2016-2271. PMID: 27967300Free PMC Article
Ho D, Jagdeo J
J Drugs Dermatol 2015 Sep;14(9):934-40. PMID: 26355610
Yu NZ, Huang JZ, Zhang H, Wang Y, Wang XJ, Zhao R, Bai M, Long X
Chin Med J (Engl) 2015 May 5;128(9):1245-51. doi: 10.4103/0366-6999.156142. PMID: 25947410Free PMC Article

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