- Characterized by widespread skeletal & extra – skeletal lesions & chronic clinical course.
- Occurs primarily in early life, before the age of 5; more common in boys & girls.
- Most cases reported from Western literature, authentic cases from India are few.
- Classic triad of :-
- Single or multiple areas of ‘punched out’ bone destruction in skull
- Unilateral or bilateral exophthalmos
- Diabetes insipidus with or without other manifestations of dyspituitarism
- Involvement of facial bones frequently associated with soft tissue swelling & tenderness; causes facial symmetry.
- Classically involves the flat bones of the skull, ribs, pelvis, and scapula
- Diabetes insipidus affects 5 to 50% of patients.
- Skin involvement in the form of erythematous scaly rash or papular or nodular lesions which is seen in only 30% of patients.
- Poor sexual development and retarted growth is another feature.
- Vision loss or strabismus caused by optic nerve or orbital muscle involvement occurs rarely.
- Chronic otitis media and otitis externa due to involvement of the mastoid and petrous portions of the temporal bone with partial obstruction of the auditory canal are fairly common
- Earliest signs of the disease; may be present in 5 – 75% of cases.
- Often non specific; sore mouth, halitosis, gingivitis, ulcerations, loose teeth, suppuration, failure of healing of extraction sockets
- Loss of supporting alveolar bone mimicking advanced periodontal disease is characteristic.
- Skull lesions sharply outlined; jaw lesions may be diffuse.
- Jaw lesions manifested as bone destruction with tooth displacement.
- Panoramic may show remarkable atrophy of the alveolar ridge and severe parodontitis.
- Remaining teeth abnormally sited in an extra alveolar position
- Manifesting in four stages during progression of characteristic lesion
- Proliferative histiocytic phase with accumulation of collections of eosinophilic leukocytes scattered throughout sheets of histiocytes.
- Vascular – granulomatous phase with persistence of histiocytes & eosinophils, sometimes with aggregation of lipid laden (cholesterol) macrophages.
- Diffuse xanthomatous phase with abundance of ‘foam cells’
- Fibrous healing phase.
- Infiltration with CD1 positive histiocytes disclosing intracytoplasmic Birbek granules at the electron microscopic examination .
- Histological diagnosis is based on the presence of a histiocytic infiltrate in the upper and middle dermis.
- The optical microscope examination reveals in the papillary dermis an important oedema, large cells with an indented nucleus and abundant eosinophilic cytoplasm
- Histochemical colouring, showing positiveness for S-100 protein, the presence of CD1, CD4 and HLA-DR surface antigens confirm the diagnosis
Treatment & prognosis:-
- Therapy of the Hand-Schuller-Christian disease varies according to the age of the patient, the severity and extent of the clinical picture.
- Approximately half of the patients undergo spontaneous remission over a period of years.
- Treatment of choice is curettage or excision of lesions.
- Inaccessible lesions may be irradiated.
- Some patients may benefit from chemo – therapeutic drugs like Prednisone, Vinblastine & Cyclophosphamide.