U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Xanthelasma

MedGen UID:
56357
Concept ID:
C0155210
Disease or Syndrome
Synonyms: Benign Eyelid Xanthelasma; Benign Xanthelasma of Eyelid; Benign Xanthelasma of the Eyelid; Eyelid Xanthoma; Fatty deposits in skin around the eyes; Fatty deposits on eyelids; Xanthelasma of eyelid; Xanthelasma of periocular region; Xanthelasma palpebrarum; Xanthelasma Palpebrum; Xanthoma; Xanthoma of eyelid; Xanthoma of Eyelid; Xanthoma of periocular region; Xanthoma of the Eyelid; Xanthomatous deposition
SNOMED CT: Xanthoma of eyelid (6400008); Xanthelasma palpebrarum (238951005); Xanthomatous deposition (238951005); Xanthelasma (238951005)
 
HPO: HP:0001114

Definition

The presence of xanthomata in the skin of the eyelid. [from HPO]

Term Hierarchy

Conditions with this feature

Hyperlipidemia, familial combined, LPL related
MedGen UID:
6965
Concept ID:
C0020474
Disease or Syndrome
Familial combined hyperlipidemia (FCHL) is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B (APOB; 107730). Patients with FCHL are at increased risk of cardiovascular disease and mortality and have a high frequency of comorbidity with other metabolic conditions such as type 2 diabetes, nonalcoholic fatty liver disease, steatohepatitis, and the metabolic syndrome (summary by Bello-Chavolla et al., 2018). Goldstein et al. (1973) gave the designation 'familial combined hyperlipidemia' to the most common genetic form of hyperlipidemia identified in a study of survivors of myocardial infarction. Affected persons characteristically showed elevation of both cholesterol and triglycerides in the blood. The combined disorder was shown to be distinct from familial hypercholesterolemia (143890) and from familial hypertriglyceridemia (145750) for the following reasons: (1) lipid distributions in relatives were unique; (2) unlike familial hypercholesterolemia, children of affected persons did not express hypercholesterolemia; and (3) informative matings suggested that variable expression of a single gene rather than segregation for 2 separate genes was responsible. This disorder leads to elevated levels of VLDL, LDL, or both in plasma. From time to time the pattern can change in a given person. Unlike familial hypercholesterolemia, hyperlipidemia appears in only 10 to 20% of patients in childhood, usually in the form of hypertriglyceridemia. Xanthomas are rare. Increased production of VLDL may be a common underlying metabolic characteristic in this disorder, which may be heterogeneous. The disorder may be 5 times as frequent as familial hypercholesterolemia, occurring in 1% of the U.S. population. Genetic Heterogeneity of Susceptibility to Familial Combined Hyperlipidemia Also see FCHL1 (602491), associated with variation in the USF1 gene (191523) on chromosome 1q23, and FCHL2 (604499), mapped to chromosome 11.
Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Glucose-6-phosphate transport defect
MedGen UID:
78644
Concept ID:
C0268146
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
Hypercholesterolemia, familial, 1
MedGen UID:
152875
Concept ID:
C0745103
Disease or Syndrome
Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Hypercholesterolemia, autosomal dominant, type B
MedGen UID:
309962
Concept ID:
C1704417
Disease or Syndrome
Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Familial isolated deficiency of vitamin E
MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.
Hypercholesterolemia, autosomal dominant, 3
MedGen UID:
355007
Concept ID:
C1863551
Disease or Syndrome
Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction; stroke occurs more rarely. Xanthomas (cholesterol deposits in tendons) may be visible in the Achilles tendons or tendons of the hands and worsen with age as a result of extremely high cholesterol levels. Xanthelasmas (yellowish, waxy deposits) can occur around the eyelids. Individuals with FH may develop corneal arcus (white, gray, or blue opaque ring in the corneal margin as a result of cholesterol deposition) at a younger age than those without FH. Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease.
Sitosterolemia 1
MedGen UID:
440869
Concept ID:
C2749759
Disease or Syndrome
Sitosterolemia is characterized by: Hypercholesterolemia (especially in children) which (1) shows an unexpected significant lowering of plasma cholesterol level in response to low-fat diet modification or to bile acid sequestrant therapy; or (2) does not respond to statin therapy; Tendon xanthomas or tuberous (i.e., planar) xanthomas that can occur in childhood and in unusual locations (heels, knees, elbows, and buttocks); Premature atherosclerosis, which can lead to angina, aortic valve involvement, myocardial infarction, and sudden death; Hemolytic anemia, abnormally shaped erythrocytes (stomatocytes), and large platelets (macrothrombocytopenia). On occasion, the abnormal hematologic findings may be the initial presentation or the only clinical feature of this disorder. Arthritis, arthralgias, and splenomegaly may sometimes be seen and one study has concluded that "idiopathic" liver disease could be undiagnosed sitosterolemia. The clinical spectrum of sitosterolemia is probably not fully appreciated due to underdiagnosis and the fact that the phenotype in infants is likely to be highly dependent on diet.
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
MedGen UID:
415885
Concept ID:
C2919796
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
MedGen UID:
896409
Concept ID:
C4225270
Disease or Syndrome
Kosaki overgrowth syndrome (KOGS) is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, and have large hands and feet. Skin is hyperelastic and fragile. Patients exhibit progressive dilatory and vascular changes in basilar/vertebral and coronary arteries starting in the teenage years (Takenouchi et al., 2015; Takenouchi et al., 2021).

Professional guidelines

PubMed

Paasch U, Zidane M, Baron JM, Bund T, Cappius HJ, Drosner M, Feise K, Fischer T, Gauglitz G, Gerber PA, Grunewald S, Herberger K, Jung A, Karsai S, Kautz G, Philipp C, Schädel D, Seitz AT, Nast A
J Dtsch Dermatol Ges 2022 Sep;20(9):1248-1267. Epub 2022 Sep 13 doi: 10.1111/ddg.14879. PMID: 36098675
Yates B, Que SK, D'Souza L, Suchecki J, Finch JJ
Clin Dermatol 2015 Mar-Apr;33(2):197-206. doi: 10.1016/j.clindermatol.2014.10.011. PMID: 25704939
Rohrich RJ, Janis JE, Pownell PH
Plast Reconstr Surg 2002 Oct;110(5):1310-4. doi: 10.1097/01.PRS.0000025626.70065.2B. PMID: 12360073

Recent clinical studies

Etiology

Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Trinh LN, McGuigan KC, Gupta A
Facial Plast Surg 2022 Jun;38(3):250-259. Epub 2021 Oct 19 doi: 10.1055/s-0041-1736390. PMID: 34666405
Scarano A, Inchingolo F, Scogna G, Leo L, Crisante A, Greco Lucchina A, Lorusso F
J Biol Regul Homeost Agents 2021 Mar-Apr;35(2 Suppl. 1):181-185. doi: 10.23812/21-2supp1-18. PMID: 34281315
Alicezah MK, Razali R, Rahman T, Hoh BP, Suhana NH, Muid S, Nawawi HM, Koshy M
Malays J Pathol 2014 Aug;36(2):131-7. PMID: 25194536
Zak A, Zeman M, Slaby A, Vecka M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 Jun;158(2):181-8. Epub 2014 Apr 29 doi: 10.5507/bp.2014.016. PMID: 24781043

Diagnosis

Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Trinh LN, McGuigan KC, Gupta A
Facial Plast Surg 2022 Jun;38(3):250-259. Epub 2021 Oct 19 doi: 10.1055/s-0041-1736390. PMID: 34666405
Sendul SY, Akpolat C, Yilmaz Z, Eryilmaz OT, Guven D, Kabukcuoglu F
J Fr Ophtalmol 2021 Apr;44(4):537-543. Epub 2021 Feb 18 doi: 10.1016/j.jfo.2020.07.019. PMID: 33610396
Zak A, Zeman M, Slaby A, Vecka M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2014 Jun;158(2):181-8. Epub 2014 Apr 29 doi: 10.5507/bp.2014.016. PMID: 24781043
Opie KM, Kaye J, Vinciullo C
Australas J Dermatol 2003 Aug;44(3):194-8. doi: 10.1046/j.1440-0960.2003.00677.x. PMID: 12869045

Therapy

Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Trinh LN, McGuigan KC, Gupta A
Facial Plast Surg 2022 Jun;38(3):250-259. Epub 2021 Oct 19 doi: 10.1055/s-0041-1736390. PMID: 34666405
Mandal P, Gama F
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1602-1609. Epub 2021 Jan 9 doi: 10.1016/j.bjps.2020.12.079. PMID: 33546985
Nguyen AH, Vaudreuil AM, Huerter CJ
Int J Dermatol 2017 Mar;56(3):e47-e55. doi: 10.1111/ijd.13534. PMID: 28181222
Stegman SJ, Tromovitch TA
Arch Dermatol 1982 Dec;118(12):1013-6. PMID: 6216854

Prognosis

Scarano A, Inchingolo F, Scogna G, Leo L, Crisante A, Greco Lucchina A, Lorusso F
J Biol Regul Homeost Agents 2021 Mar-Apr;35(2 Suppl. 1):181-185. doi: 10.23812/21-2supp1-18. PMID: 34281315
Wang KY, Hsu KC, Liu WC, Yang KC, Chen LW
Ann Plast Surg 2018 Feb;80(2S Suppl 1):S84-S86. doi: 10.1097/SAP.0000000000001310. PMID: 29424765
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
Yates B, Que SK, D'Souza L, Suchecki J, Finch JJ
Clin Dermatol 2015 Mar-Apr;33(2):197-206. doi: 10.1016/j.clindermatol.2014.10.011. PMID: 25704939
Möhrenschlager M, Lauenstein M, Ring J, Steiner C
Eur J Med Genet 2010 Jul-Aug;53(4):225-6. Epub 2010 Feb 10 doi: 10.1016/j.ejmg.2010.02.001. PMID: 20152950

Clinical prediction guides

Milman T, Eiger-Moscovich M, Henry RK, Ida CM, Ruben M, Shields CL, Lally SE, Penne RB, Stefanyszyn MA, Bilyk JR, Rapuano CJ, Rabinowitz M, Eagle RC Jr
Am J Ophthalmol 2022 Oct;242:36-51. Epub 2022 May 18 doi: 10.1016/j.ajo.2022.05.009. PMID: 35594918
Hadeler E
J Med Humanit 2021 Dec;42(4):795-799. Epub 2021 Aug 27 doi: 10.1007/s10912-021-09709-y. PMID: 34448105
Scarano A, Inchingolo F, Scogna G, Leo L, Crisante A, Greco Lucchina A, Lorusso F
J Biol Regul Homeost Agents 2021 Mar-Apr;35(2 Suppl. 1):181-185. doi: 10.23812/21-2supp1-18. PMID: 34281315
Mandal P, Gama F
J Plast Reconstr Aesthet Surg 2021 Jul;74(7):1602-1609. Epub 2021 Jan 9 doi: 10.1016/j.bjps.2020.12.079. PMID: 33546985
Heathcote J
Can J Gastroenterol 2000 Jan;14(1):43-8. doi: 10.1155/2000/989486. PMID: 10655026

Recent systematic reviews

Machado RA, Oliveira LQ, Martelli-Júnior H, Pires FR, Carvas JB, Rogerio VE, Rabelo VD, Coletta RD
Med Oral Patol Oral Cir Bucal 2023 May 1;28(3):e278-e284. doi: 10.4317/medoral.25713. PMID: 36565218Free PMC Article
Lousa R, Alves M, Mota C, Brito D, Almeida AG, Pinto FJ, Caldeira D
Eur J Prev Cardiol 2022 Oct 18;29(13):1740-1743. doi: 10.1093/eurjpc/zwac070. PMID: 35554519
Trinh LN, McGuigan KC, Gupta A
Facial Plast Surg 2022 Jun;38(3):250-259. Epub 2021 Oct 19 doi: 10.1055/s-0041-1736390. PMID: 34666405
Chang HC, Sung CW, Lin MH
J Am Acad Dermatol 2020 Mar;82(3):596-605. Epub 2019 Sep 6 doi: 10.1016/j.jaad.2019.08.082. PMID: 31499151
Nguyen AH, Vaudreuil AM, Huerter CJ
Int J Dermatol 2017 Mar;56(3):e47-e55. doi: 10.1111/ijd.13534. PMID: 28181222

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...