Hand-Schuller-Christian syndrome (lipoid histiocytosis)
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Introduction
Multifocal, unisystem Langerhans cell histiocytosis; several sites in one organ system, usually bone. Hand-Schuller-Christian syndrome is the triad of:
Clinical manifestations
- swelling & necrosis of gums & loose teeth with infiltration of maxilla &/or mandible
- skin lesions
- papular, seborrheic, purpuric or petechial rash
- small xanthomatous nodules
- raised yellow to brown lesions in axillae or neck
- lesions may become necrotic
- intertriginous lesions may be exudative, become infected & ulcerate
- papulosquamous lesions on scalp, face, trunk, abdomen & buttocks
- moist scalp & intertriginous lesions have an offensive odor
- erosive lesions are exudative, pruritic or painful, with poor response to local treatment
- anogenital lesions
- bony lesions occur in the calvarium, sphenoid bone, sella turcica, mandible, long bones of extremities & vertebrae
- otitis media +/- aural discharge resulting from destruction of mastoid &/or temporal bones
- ocular proptosis/exophthalmos due to orbital masses
- pituitary dysfunction with involvement of sella turcica
- growth retardation
- delayed sexual development
- diabetes insipidus
- chronic cough & pneumothorax with lung involvement
Laboratory
- complete blood count (CBC): anemia
- skin biopsy: fat & cholesterol in skin lesions
Radiology
- plain radiographs: sharply demarcated bony defects
- chest X-ray: pulmonary fibrosis
- bone scan to assess extent of osseous involvement
Management
- prognosis:
- spontaneous remissions occur
- prognosis poorer with lung involvement
- standard treatment of diabetes insipidus & growth hormone deficiency
- low-dose (300-600 rad) radiotherapy to bony lesions
- pharmaceutical agents:
- corticosteroids
- vinblastine
- mercaptopurine
- methotrexate
- agents a-d ujsed alone or in combination with epipodophyllotoxin (etoposide) for treatment of diabetes insipidus
- cutaneous lesions