6.2.5 Xanthomas

Synonyms

Lipid deposition disease.

Epidemiology

Xanthomas: a common manifestation of hyperlipidemia. Xanthelasmas: the most common type of xanthomas; in persons older than 50 years; 6% of eyelid tumors.

Definition

Tumour-like accumulations of lipid laden macrophages (foam cells) and accumulation of histiocytes.

Aetiology & Pathogenesis

In xanthomas: systemic or local disturbance in lipid metabolism ( monogenic or polygenic ). In eruptive xanthomas: often triglycerides increased. Disseminated plane xanthomas belong to systemic histiocytoses, also juvenile xanthogranuloma. In xanthelasma often normal lipid metabolism.

Signs & Symptoms

Depending on localisation over joints pain may appear. No pruritus.


-Xanthelasmas: soft, flat, yellowish papules.


-Eruptive xanthomas: multiple, small yellow papules. 


-Tuberous xanthomas: firm, yellow nodules. 


-Tendinous xanthomas: subcutaneous nodules. 


-Plane xanthomas:  yellow macules or plaques.

Localisation

  • Xanthelasmas: eyelids. 
  • Eruptive xanthomas: buttocks, shoulders, extensor sites of the extremities. 
  • Tuberous xanthomas: knees, elbows. 
  • Tendinous xanthomas: along the extensor tendons of the hands, the feet, and the Achilles tendons. 
  • Plane xanthomas: any site; often in palmar creases.

Classification

See Symptoms.

Laboratory & other workups

Lipid status incl. subtype specification in xanthomas. 

Dermatopathology

Vacuolated macrophages (foamy macrophages) in the dermis, occasionally with typical multinucleated histiocytes (Touton giant cells).

Course

The lesions are usually slowly enlarging; eruptive xanthomas may resolve spontaneously.

Complications

Patients with hyperlipidemia: atherosclerosis, circulation disorders, cardiac infarction, pancreatitis.

Diagnosis

Clinical features and histology.

Differential diagnosis

Syringoma. Nodular and plaque-like localized cutaneous amyloidosis. Lipoid proteinosis.

Prevention & Therapy

Prevention: diet and lipid lowering drugs.


Therapy: treatment of individual hyperlipidemia in xanthomas; in disseminated type  subtyping of cell type and bone marrow aspiration. For xanthomas and xanthelasmafor cosmetically disturbing lesions: electrocautery, surgery or Erbium- / CO2 laser.

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