Xanthoma disseminatum

Orpha code: 158003OMIM code:

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.

Disease data
Classification

Disease

Synonyms
Montgomery syndrome
Zespół Montgomery'ego
ORPHA code
158003
OMIM code
-
ICD10 code
D76.3
ICD11 code
EE81

No additional description.

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