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Familial multiple lipomatosis(FML)

MedGen UID:
698553
•Concept ID:
C1275273
•
Disease or Syndrome
Synonyms: FML; Lipomatosis, multiple
SNOMED CT: Familial multiple lipomata (404063007); Familial multiple lipomatosis (766888002)
 
Monarch Initiative: MONDO:0007909
OMIM®: 151900
Orphanet: ORPHA199276

Definition

Familial multiple lipomatosis (FML) is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002). [from OMIM]

Clinical features

From HPO
Multiple lipomas
MedGen UID:
677074
•Concept ID:
C0745730
•
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial multiple lipomatosis

Professional guidelines

PubMed

Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.
Hansson E, Svensson H, Brorson H
Orphanet J Rare Dis 2012 Apr 30;7:23. doi: 10.1186/1750-1172-7-23. PMID: 22546240Free PMC Article

Recent clinical studies

Etiology

Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Subcutaneous adipose tissue fatty acid desaturation in adults with and without rare adipose disorders.
Yee JK, Phillips SA, Allamehzadeh K, Herbst KL
Lipids Health Dis 2012 Feb 3;11:19. doi: 10.1186/1476-511X-11-19. PMID: 22300160Free PMC Article

Diagnosis

Lipomatoses.
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
Multiple symmetric and multiple familial lipomatosis.
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
Gastroduodenal Lipomatosis in Familial Multiple Lipomatosis.
Djuric-Stefanovic A, Ebrahimi K, Sisevic J, Saranovic D
Med Princ Pract 2017;26(2):189-191. Epub 2016 Nov 24 doi: 10.1159/000454714. PMID: 27884011Free PMC Article
Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Familial multiple angiolipomatosis.
Abbasi NR, Brownell I, Fangman W
Dermatol Online J 2007 Jan 27;13(1):3. PMID: 17511936

Therapy

Cytophagic histiocytic panniculitis with haemophagocytosis in a patient with familial multiple lipomatosis and review of the literature.
Krilis M, Miyakis S
Mod Rheumatol 2012 Feb;22(1):158-62. Epub 2011 Jul 6 doi: 10.1007/s10165-011-0487-7. PMID: 21732050
Lipolysis of lipomas in patients with familial multiple lipomatosis: an ultrasonography-controlled trial.
Bechara FG, Sand M, Sand D, Rotterdam S, Stücker M, Altmeyer P, Hoffmann K
J Cutan Med Surg 2006 Jul-Aug;10(4):155-9. doi: 10.2310/7750.2006.00040. PMID: 17234112

Prognosis

Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Review of Dercum's disease and proposal of diagnostic criteria, diagnostic methods, classification and management.
Hansson E, Svensson H, Brorson H
Orphanet J Rare Dis 2012 Apr 30;7:23. doi: 10.1186/1750-1172-7-23. PMID: 22546240Free PMC Article
The use of suction-assisted surgical extraction of moderate and large lipomas: long-term follow-up.
Al-basti HA, El-Khatib HA
Aesthetic Plast Surg 2002 Mar-Apr;26(2):114-7. doi: 10.1007/s00266-002-1492-1. PMID: 12016495
Mixed glioma of the cerebellopontine angle.
Millen SJ, Campbell BH, Meyer GA, Ho KC
Am J Otol 1985 Nov;6(6):503-7. PMID: 3878094

Clinical prediction guides

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
Manoli I, Sysol JR, Head PE, Epping MW, Gavrilova O, Crocker MK, Sloan JL, Koutsoukos SA, Wang C, Ktena YP, Mendelson S, Pass AR, Zerfas PM, Hoffmann V, Vernon HJ, Fletcher LA, Reynolds JC, Tsokos MG, Stratakis CA, Voss SD, Chen KY, Brown RJ, Hamosh A, Berry GT, Chen XS, Yanovski JA, Venditti CP
JCI Insight 2024 Feb 22;9(4) doi: 10.1172/jci.insight.174097. PMID: 38271099Free PMC Article
Lipolysis of lipomas in patients with familial multiple lipomatosis: an ultrasonography-controlled trial.
Bechara FG, Sand M, Sand D, Rotterdam S, Stücker M, Altmeyer P, Hoffmann K
J Cutan Med Surg 2006 Jul-Aug;10(4):155-9. doi: 10.2310/7750.2006.00040. PMID: 17234112
Familial multiple lipomatosis.
Keskin D, Ezirmik N, Celik H
Isr Med Assoc J 2002 Dec;4(12):1121-3. PMID: 12516905
Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma.
Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann DR
Eur J Hum Genet 2001 Sep;9(9):690-4. doi: 10.1038/sj.ejhg.5200694. PMID: 11571558
Familial multiple lipomatosis.
Rabbiosi G, Borroni G, Scuderi N
Acta Derm Venereol 1977;57(3):265-7. PMID: 71835

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