XanthomaE75.5

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.

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