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Xanthoma

MedGen UID:
86216
•Concept ID:
C0302314
•
Disease or Syndrome
Synonym: Xanthomas
SNOMED CT: Xanthomatous deposition (75594004); Xanthelasma (75594004); Xanthoma (75594004); Xanthoma (63103006)
 
Monarch Initiative: MONDO:0005236

Definition

A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003 [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVXanthoma

Professional guidelines

PubMed

Clinical and pathological evaluation of cladribine treatment response in a case series of patients with xanthoma disseminatum.
Zhou EY, Yu F, Wang Y, Bi Y, Tuan H, Huang Y, Wang B, Li J, Yin H, Li L, Zhao Y
Eur J Dermatol 2023 Jun 1;33(3):270-279. doi: 10.1684/ejd.2023.4502. PMID: 37594335
2022 Consensus statement on the management of familial hypercholesterolemia in Korea.
Lee CJ, Yoon M, Kang HJ, Kim BJ, Choi SH, Jeong IK, Lee SH; Task Force Team for Familial Hypercholesterolemia; Korean Society of Lipid and Atherosclerosis
Korean J Intern Med 2022 Sep;37(5):931-944. Epub 2022 Jul 27 doi: 10.3904/kjim.2022.121. PMID: 35882565Free PMC Article
Sitosterolemia: diagnosis, investigation, and management.
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603

Recent clinical studies

Etiology

Cutaneous histiocytoses in children.
Fraitag S, Emile JF
Histopathology 2022 Jan;80(1):196-215. doi: 10.1111/his.14569. PMID: 34958507
Cutaneous paraneoplastic syndromes.
Wick MR, Patterson JW
Semin Diagn Pathol 2019 Jul;36(4):211-228. Epub 2019 Jan 31 doi: 10.1053/j.semdp.2019.01.001. PMID: 30736994
HPV-Related Papillary Lesions of the Oral Mucosa: A Review.
Betz SJ
Head Neck Pathol 2019 Mar;13(1):80-90. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01003-7. PMID: 30693456Free PMC Article
Fibrohistiocytic Tumors.
Romano RC, Fritchie KJ
Clin Lab Med 2017 Sep;37(3):603-631. Epub 2017 Jun 15 doi: 10.1016/j.cll.2017.05.007. PMID: 28802503
Did we abandon probucol too soon?
Yamashita S, Masuda D, Matsuzawa Y
Curr Opin Lipidol 2015 Aug;26(4):304-16. doi: 10.1097/MOL.0000000000000199. PMID: 26125504

Diagnosis

Endotracheal Xanthoma Disseminatum.
McLaughlin J, Martin D, Safi J, Shepherd RW, Shojaee S
Am J Respir Crit Care Med 2022 Oct 1;206(7):901-902. doi: 10.1164/rccm.202202-0285IM. PMID: 35758930
Progress on familial hypercholesterolemia.
Jiang WZ, Zhang LW, He CH, Ruan MH, Ji Y, Yu JR, Zhou HW
Yi Chuan 2021 Nov 20;43(11):1011-1022. doi: 10.16288/j.yczz.21-218. PMID: 34815205
HPV-Related Papillary Lesions of the Oral Mucosa: A Review.
Betz SJ
Head Neck Pathol 2019 Mar;13(1):80-90. Epub 2019 Jan 29 doi: 10.1007/s12105-019-01003-7. PMID: 30693456Free PMC Article
Fibrohistiocytic Tumors.
Romano RC, Fritchie KJ
Clin Lab Med 2017 Sep;37(3):603-631. Epub 2017 Jun 15 doi: 10.1016/j.cll.2017.05.007. PMID: 28802503
Verruciform xanthoma.
Gill BJ, Chan AJ, Hsu S
Dermatol Online J 2014 Jan 15;20(1):21253. PMID: 24456956

Therapy

Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia.
Hu H, Cheng J, Lin S, Wang S, Chen X
J Cardiovasc Pharmacol 2020 Nov;76(5):506-513. doi: 10.1097/FJC.0000000000000890. PMID: 33165132
Molecular-genetic aspects of familial hypercholesterolemia.
Gabcova-Balaziova D, Stanikova D, Vohnout B, Huckova M, Stanik J, Klimes I, Raslova K, Gasperikova D
Endocr Regul 2015 Jul;49(3):164-81. doi: 10.4149/endo_2015_03_164. PMID: 26238499
Xanthomatous hypophysitis.
Hanna B, Li YM, Beutler T, Goyal P, Hall WA
J Clin Neurosci 2015 Jul;22(7):1091-7. Epub 2015 May 6 doi: 10.1016/j.jocn.2015.01.019. PMID: 25957783
Sitosterolemia: diagnosis, investigation, and management.
Escolà-Gil JC, Quesada H, Julve J, Martín-Campos JM, Cedó L, Blanco-Vaca F
Curr Atheroscler Rep 2014 Jul;16(7):424. doi: 10.1007/s11883-014-0424-2. PMID: 24821603

Prognosis

Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
The clinical spectrum of xanthomatous lesions of the eyelids.
Baykal C, Polat Ekinci A, Yazganoglu KD, Buyukbabani N
Int J Dermatol 2017 Oct;56(10):981-992. Epub 2017 May 13 doi: 10.1111/ijd.13637. PMID: 28500693
Molecular-genetic aspects of familial hypercholesterolemia.
Gabcova-Balaziova D, Stanikova D, Vohnout B, Huckova M, Stanik J, Klimes I, Raslova K, Gasperikova D
Endocr Regul 2015 Jul;49(3):164-81. doi: 10.4149/endo_2015_03_164. PMID: 26238499
Benign esophageal lesions: endoscopic and pathologic features.
Tsai SJ, Lin CC, Chang CW, Hung CY, Shieh TY, Wang HY, Shih SC, Chen MJ
World J Gastroenterol 2015 Jan 28;21(4):1091-8. doi: 10.3748/wjg.v21.i4.1091. PMID: 25632181Free PMC Article
Primary histiocytic dermatoses.
Ringel E, Moschella S
Arch Dermatol 1985 Dec;121(12):1531-41. PMID: 2998286

Clinical prediction guides

Features of chinese patients with sitosterolemia.
Zhou Z, Su X, Cai Y, Ting TH, Zhang W, Lin Y, Xu A, Mao X, Zeng C, Liu L, Li X
Lipids Health Dis 2022 Jan 18;21(1):11. doi: 10.1186/s12944-021-01619-1. PMID: 35042526Free PMC Article
Homozygous Familial Hypercholesterolemia.
Nohara A, Tada H, Ogura M, Okazaki S, Ono K, Shimano H, Daida H, Dobashi K, Hayashi T, Hori M, Matsuki K, Minamino T, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Jul 1;28(7):665-678. Epub 2021 Apr 18 doi: 10.5551/jat.RV17050. PMID: 33867421Free PMC Article
Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea.
Lee SH
J Atheroscler Thromb 2016 May 2;23(5):532-8. Epub 2016 Mar 5 doi: 10.5551/jat.34363. PMID: 26947601
Molecular-genetic aspects of familial hypercholesterolemia.
Gabcova-Balaziova D, Stanikova D, Vohnout B, Huckova M, Stanik J, Klimes I, Raslova K, Gasperikova D
Endocr Regul 2015 Jul;49(3):164-81. doi: 10.4149/endo_2015_03_164. PMID: 26238499
Benign esophageal lesions: endoscopic and pathologic features.
Tsai SJ, Lin CC, Chang CW, Hung CY, Shieh TY, Wang HY, Shih SC, Chen MJ
World J Gastroenterol 2015 Jan 28;21(4):1091-8. doi: 10.3748/wjg.v21.i4.1091. PMID: 25632181Free PMC Article

Recent systematic reviews

Zebras in Foreskin Dermatopathology: A Review.
Alhatem A, Patel N, Lambert WC, Heller DS
J Low Genit Tract Dis 2019 Jul;23(3):235-240. doi: 10.1097/LGT.0000000000000478. PMID: 31149956
Efficacy and safety of lipoprotein apheresis in children with homozygous familial hypercholesterolemia: A systematic review.
Luirink IK, Determeijer J, Hutten BA, Wiegman A, Bruckert E, Schmitt CP, Groothoff JW
J Clin Lipidol 2019 Jan-Feb;13(1):31-39. Epub 2018 Nov 3 doi: 10.1016/j.jacl.2018.10.011. PMID: 30553758
Diagnostic accuracy of ultrasound and MRI for Achilles tendon xanthoma in people with familial hypercholesterolemia: A systematic review.
Scott A, Zahradnik TM, Squier K, Beck C, Brunham LR
J Clin Lipidol 2019 Jan-Feb;13(1):40-48. Epub 2018 Nov 7 doi: 10.1016/j.jacl.2018.10.013. PMID: 30503304
Spectrum of mutations of familial hypercholesterolemia in the 22 Arab countries.
Alhababi D, Zayed H
Atherosclerosis 2018 Dec;279:62-72. Epub 2018 Oct 19 doi: 10.1016/j.atherosclerosis.2018.10.022. PMID: 30415195
Systematic review of laser therapy in xanthelasma palpebrarum.
Nguyen AH, Vaudreuil AM, Huerter CJ
Int J Dermatol 2017 Mar;56(3):e47-e55. doi: 10.1111/ijd.13534. PMID: 28181222

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