Lipid deposition disease.
6.2.5 Xanthomas
Synonyms
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.
Podcasts
Tests
- A 28-year-old physicist consults you because of nodules son his elbows. He is healthy but both his father and grandfather died before 50 years of age of heart attacks. What is your diagnosis?
- 45-year-old patient with painful nodules on elbows which are slowly increasing in size. What are the differential diagnostic considerations?
- Statement 1 Rheumatoid nodules are painful while tuberous xanthomas are not; this is a reliable means of separation
- Statement 1 The differential diagnosis of elbow papules includes tuberous xanthomas and rheumatoid nodules.
- Which of these lesion types is present in all xanthomas?
- This 33-year-old woman presents with eyelid lesions which have been increasing in size over the past 2 years. What associated disease must you search for?
- True or false?
- This 55-year-old woman asks about the lesions on her lids. They are asymptomatic but a cosmetic problem. Your diagnosis?
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