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Xanthoma disseminatum

Disease definition

A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.

ORPHA:158003

Classification level: Disorder
  • Synonym(s):
    • Montgomery syndrome
  • Prevalence: -
  • Inheritance: Not applicable 
  • Age of onset: -
  • ICD-10: D76.3
  • OMIM: -
  • UMLS: C0043322
  • MeSH: -
  • GARD: -
  • MedDRA: 10052575

Detailed information

Article for general public

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