The traditional combination of three features are seen in 25% of people with the condition, which usually presents between the ages of two and six; one or both bulging eyes, breakdown of bone (lytic bone lesions often in the skull in a 'punched out' pattern), and diabetes insipidus (excessive thirst and passing urine). The skin can be affected with rashes, bumps and ulcers, and bones can be painful. There may be large lymph nodes and signs of lung and liver disease. Affected people may present with fever and weight loss. The face may look asymmetrical and ear infections are common. Between 5 and 75% of cases have been reported to present with signs in the mouth. These include mouth ulcers, bad breath, swollen gums, loose teeth and an unpleasant taste. Destruction of part of the jaw bone may give the appearance of advanced gum disease.
Chronic multifocal Langerhans cell histiocytosis
Progressive nodular histiocytoma
Progressive nodular histiocytosis
Thymoma-associated multiorgan autoimmunity
Skin manifestations of sarcoidosis
Acrokeratoelastoidosis of Costa
AIDS-related lymphoma
Inflammatory myofibroblastic tumour