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ORPHA:158003· ICD-10 D76.3· Xanthoma disseminatum

Визначення(English summary)

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.

Успадкування
Not applicable
Вік початку
Adolescent, Adult, Childhood