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Multiple lipomas

MedGen UID:
677074
Concept ID:
C0745730
Finding; Neoplastic Process
Synonyms: Lipomas; Lipomatosis; Multiple fatty lumps; Multiple lipomata
SNOMED CT: Multiple lipomata (404062002)
 
HPO: HP:0001012

Definition

The presence of multiple lipomas (a type of benign tissue made of fatty tissue). [from HPO]

Term Hierarchy

Conditions with this feature

Multiple symmetric lipomatosis
MedGen UID:
7349
Concept ID:
C0023804
Disease or Syndrome
Multiple symmetric lipomatosis (MSL) is an autosomal recessive metabolic disorder characterized by the growth of unencapsulated masses of adipose tissue with predilection for the cervical and thoracic regions. The lipoma growth is striking and disfiguring, and growth around the neck may cause difficulty swallowing or breathing. The age at onset ranges from childhood to young adulthood. Most, but not all, patients develop axonal peripheral neuropathy, which can appear at any age and varies in severity. Laboratory studies in MSL show low leptin (164160), low adiponectin (605441), variably increased lactate, and increased FGF21 (609436). Some patients may have insulin resistance. The disorder is exclusively associated with a particular MFN2 mutation (R707W; 608507.0013), usually in the homozygous state, but sometimes in the compound heterozygous state (Rocha et al., 2017; Capel et al., 2018).
Neural tube defect
MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.
Proteus syndrome
MedGen UID:
39008
Concept ID:
C0085261
Neoplastic Process
Proteus syndrome is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals Proteus syndrome has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Familial multiple lipomatosis
MedGen UID:
698553
Concept ID:
C1275273
Disease or Syndrome
Familial multiple lipomatosis (FML) is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002).
Familial hypocalciuric hypercalcemia 3
MedGen UID:
322173
Concept ID:
C1833372
Disease or Syndrome
Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
Familial hypocalciuric hypercalcemia 2
MedGen UID:
374447
Concept ID:
C1840347
Disease or Syndrome
Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980).
Disorganization, mouse, homolog of
MedGen UID:
387773
Concept ID:
C1857230
Finding
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Legius syndrome
MedGen UID:
370709
Concept ID:
C1969623
Disease or Syndrome
Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
MedGen UID:
1620960
Concept ID:
C4540096
Disease or Syndrome
Mitochondrial myopathy and ataxia (MMYAT) is an autosomal recessive mtDNA depletion disorder characterized by cerebellar ataxia, congenital muscle involvement with histologic findings ranging from myopathic to dystrophic, and pigmentary retinopathy (summary by Donkervoort et al., 2019).
Birt-Hogg-Dube syndrome 1
MedGen UID:
1051978
Concept ID:
CN375946
Disease or Syndrome
Any Birt-Hogg-Dube (BHD) syndrome in which the cause of the disease is a variation in the FLCN gene.

Professional guidelines

PubMed

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
Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C
Hum Mol Genet 1999 Aug;8(8):1461-72. doi: 10.1093/hmg/8.8.1461. PMID: 10400993
Rydholm A, Berg NO
Acta Orthop Scand 1983 Dec;54(6):929-34. doi: 10.3109/17453678308992936. PMID: 6670522

Recent clinical studies

Etiology

Lemaitre M, Chevalier B, Jannin A, Le Mapihan K, Boury S, Lion G, Labalette M, Vantyghem MC
Orphanet J Rare Dis 2021 Jun 29;16(1):290. doi: 10.1186/s13023-021-01920-3. PMID: 34187516Free PMC Article
Tuli G, Munarin J, Mussa A, Carli D, Gastaldi R, Borgia P, Vigone MC, Abbate M, Ferrero GB, De Sanctis L
Endocrine 2021 Dec;74(3):632-637. Epub 2021 Jun 28 doi: 10.1007/s12020-021-02805-y. PMID: 34184188Free PMC Article
Martin H, Bessis D, Bourrat E, Mazereeuw-Hautier J, Morice-Picard F, Balguerie X, Chiaverini C; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Pediatr Dermatol 2020 Sep;37(5):839-843. Epub 2020 Jul 13 doi: 10.1111/pde.14265. PMID: 32657433
Dragieva G, Stahel HU, Meyer M, Kempf W, Häffner A, Burg G, Hafner J
Vasa 2003 Aug;32(3):159-63. doi: 10.1024/0301-1526.32.3.159. PMID: 14524037
Weiss SW
Monogr Pathol 1996;38:207-39. PMID: 8744279

Diagnosis

Bardazzi F, Starace M, Loi C, Filippi F, Peron I, Sacchelli L
J Dtsch Dermatol Ges 2024 Apr;22(4):601-603. Epub 2024 Mar 20 doi: 10.1111/ddg.15362. PMID: 38506609
Martin H, Bessis D, Bourrat E, Mazereeuw-Hautier J, Morice-Picard F, Balguerie X, Chiaverini C; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique
Pediatr Dermatol 2020 Sep;37(5):839-843. Epub 2020 Jul 13 doi: 10.1111/pde.14265. PMID: 32657433
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
Dragieva G, Stahel HU, Meyer M, Kempf W, Häffner A, Burg G, Hafner J
Vasa 2003 Aug;32(3):159-63. doi: 10.1024/0301-1526.32.3.159. PMID: 14524037
Weiss SW
Monogr Pathol 1996;38:207-39. PMID: 8744279

Therapy

Radfar L, Holt T, Masood F
Tex Dent J 2013 Dec;130(12):1195-9. PMID: 24600803
Bechara FG, Sand M, Hoffmann K, Sand D, Altmeyer P, Stücker M
J Cutan Pathol 2007 Jul;34(7):552-7. doi: 10.1111/j.1600-0560.2006.00651.x. PMID: 17576334
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

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
Burger B, Cattani N, Trueb S, de Lorenzo R, Albertini M, Bontognali E, Itin C, Schaub N, Itin PH, Heinimann K
Oncologist 2011;16(12):1698-705. Epub 2011 Dec 1 doi: 10.1634/theoncologist.2011-0244. PMID: 22135120Free PMC Article
Nanni M, Bellussi F, Youssef A, Arcangeli T, Maroni E, De Musso F, Vasapollo B, Valensise H, Manganaro L, Masini L, Pilu G, Rizzo N, Ghi T
Fetal Diagn Ther 2011;30(2):160-2. Epub 2011 Aug 26 doi: 10.1159/000329561. PMID: 21876333
Coffin CM, Lowichik A, Putnam A
Am J Surg Pathol 2009 Nov;33(11):1705-12. doi: 10.1097/PAS.0b013e3181b76462. PMID: 19738456
Weiss SW
Monogr Pathol 1996;38:207-39. PMID: 8744279

Clinical prediction guides

Tuli G, Munarin J, Mussa A, Carli D, Gastaldi R, Borgia P, Vigone MC, Abbate M, Ferrero GB, De Sanctis L
Endocrine 2021 Dec;74(3):632-637. Epub 2021 Jun 28 doi: 10.1007/s12020-021-02805-y. PMID: 34184188Free PMC Article
Burger B, Cattani N, Trueb S, de Lorenzo R, Albertini M, Bontognali E, Itin C, Schaub N, Itin PH, Heinimann K
Oncologist 2011;16(12):1698-705. Epub 2011 Dec 1 doi: 10.1634/theoncologist.2011-0244. PMID: 22135120Free PMC Article
Pascucci A, Lynch PJ
Dermatol Online J 2010 Sep 15;16(9):4. PMID: 20875325
Coffin CM, Lowichik A, Putnam A
Am J Surg Pathol 2009 Nov;33(11):1705-12. doi: 10.1097/PAS.0b013e3181b76462. PMID: 19738456
Ligon AH, Moore SD, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC
Am J Hum Genet 2005 Feb;76(2):340-8. Epub 2004 Dec 10 doi: 10.1086/427565. PMID: 15593017Free PMC Article

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