Xanthoma E75.5

Macular, papular or nodular, skin-colored, yellow, brown, red or brown-red neoplasms caused by local storage of serum lipoproteins in macrophages of the skin and/or subcutaneous tissue, sometimes with underlying elevation of serum lipoproteins, but sometimes also occurring normlipemically. There are close pathogenetic relationships or overlaps to/with the (normlipemic) non-Langerhans cell histiocytoses (see under xanthogranulomas).

Classification is based on clinical and laboratory criteria.

Clinical differentiation:

• plane xanthomas (e.g. xanthelasma)
• eruptive xanthomas (disseminated nodules)
• tendon xanthomas (deep-seated soft nodules)
• tuberous xanthomas.

Laboratory chemistry distinguishes:

• Hyperlipemic (hyperlipoproteinemia types I to V):
  • Eruptive xanthomas
  • Xanthoma palmare striatum
  • Xanthoma tendinosum et articulare
  • Plane xanthomas
  • Tuberous xanthomas
  • Alagille syndrome
  • Sitosterolemia, familial (mutation of the ATP-binding cassette transporter ABCG5, see below ABCG5 gene)
• Normolipemic (see under histiocytoses):
  • Xanthelasma palpebrarum (normolipemic/hyperlipemic)
  • Xanthoma disseminatum
  • Xanthoma, papular
  • Xanthogranuloma juvenile
  • generalized plane xanthomatosis
  • Normolipemic papular xanthomatosis
  • Normolipemic cutaneous xanthomatosis
  • Necrobiotic xanthogranuloma
  • Wolman's disease
• Secondary xanthomatization in tumors and dermatoses:
  • Dermatofibroma
  • Non-Langerhans cell histiocytoses
  • Langerhans cell histiocytoses
  • Multicentric reticulohistiocytosis
  • Mycosis fungoides
  • Plasmocytoma (see lymphoma, cutaneous B-cell lymphoma)
  • Lymphoma of the skin
  • Leukemia.

Possible triggers:

familial dyslipidemia(triglycerides, cholesterol)

diabetes mellitus

hypothyroidism

nephrotic syndrome

monoclonal gammopathy

primary biliary cirrhosis, cholestasis

alcoholism

rarely: systemic lupus erythematosus;

hematopoietic malignancies

also with drug administration

Predominantly fat-storing macrophages (foam cells) and possibly foreign body giant cells and Toutonian giant cells. Later fibrosis, cholesterol granulomas.

1. Bayer-Garner IB et al (2003) The spectrum of cutaneous disease in multiple myeloma. J Am Acad Dermatol 48: 497-507.
2. Bel S et al (2001) Cerebrotendinous xanthomatosis. J Am Acad Dermatol 45: 292-295.
3. Broeshart JH (2003) Normolipemic plane xanthoma associated with adenocarcinoma and severe itch. J Am Acad Dermatol 49: 119-122.
4. Caputo R et al (2002) Progressive histiocytosis: description of a case of slow-course non-Langerhans cell histiocytosis. Dermatology 205: 293-297
5. Chang HY (2003) Eruptive xanthomas associated with olanzapine use. Arch Dermatol 139: 1045-1048
6. Cohen YK et al (2015) Diffuse normolipemic plane xanthoma associated with monoclonal gammopathy. Dermatol Pract Concept 5:65-67.
7. Heller R et al (2002) Cerebrotendinous xanthomatosis, a treatable metabolic disorder. Neurologist 73: 1160-1166.
8. Hirata Y et al (2002) Low density lipoprotein oxidized in xanthoma tissue induces the formation and infiltration of foam cells. J Dermatol Sci 30: 248-255.
9. Koyama S et al (2021) Cerebrotendinous xanthomatosis: molecular pathogenesis, clinical spectrum, diagnosis, and disease-modifying treatments. J Atheroscler Thromb 28: 905-925.
10. Krishna VC et al (2016) Xanthoma disseminatum with extensive coebnerization associated with familial hypertriglyceridemia C. JAAD 2: 253-256.
11. Muscardin LM et al (2003) Necrobiotic xanthogranuloma without periorbital lesions and without paraproteinaemia. J Eur Acad Dermatol Venereol 17: 233-235.
12. Naik NS (2001) Eruptive xanthomas. Dermatol Online J 7: 11
13. Watermann DF et al (2001) Skin manifestations of Erdheim-Chester disease. Case report and review of the literature. Dermatol 52: 510-517
14. Ochsendorf F (2020) Manifestations of internal diseases on the skin. Consilium Dermatologie live 2: 24-29