Xanthoma disseminatum
Synonyms: Montgomery syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Xanthoma disseminatum?
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