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ALL / Rheumatology
Langerhans cell histiocytosis
Langerhans cell histiocytosis
Langerhans cell histiocytosis is a rare disorder characterised by the proliferation of Langerhans cells, which are specialised dendritic cells that normally function to present antigen to T lymphocytes. The disease can affect multiple organs, including the bones, skin, lungs, and endocrine system. It is notable for its variable clinical presentation, ranging from isolated bone lesions to multisystem disease.Features
- bone pain, typically in the skull or proximal femur
- cutaneous nodules
- pituitary involvement: leads to diabetes insipidus due to pituitary stalk involvement
- pulmonary involvement: More common in adults, presenting with dyspnoea, cough, and chest pain
- recurrent otitis media/mastoiditis
- tennis racket-shaped Birbeck granules on electromicroscopy
Diagnosis:
- biopsy: confirmation is through biopsy showing Langerhans cells with characteristic grooved nuclei and positive staining for CD1a and S100 protein
- imaging: radiographs and MRI for bone lesions; CT may be used for chest and abdominal involvement
Treatment:
- localized disease: surgical resection or limited radiotherapy for isolated lesions.
- multisystem disease: systemic therapy including steroids, chemotherapy (e.g., vinblastine, cytarabine), and targeted therapies for refractory cases.
- supportive care: management of diabetes insipidus, pain control, and treatment of secondary infections.
Young girl with multiple well defined 'punched out' osteolytic lesions with scalloped edges (geographic skull) are seen in the bilateral parietal regions. The lesions have a characteristic bevelled edge.
+PassMedicine Notes
Langerhans cell histiocytosis is a rare disorder characterised by the proliferation of Langerhans cells, which are specialised dendritic cells that normally function to present antigen to T lymphocytes. The disease can affect multiple organs, including the bones, skin, lungs, and endocrine system. It is notable for its variable clinical presentation, ranging from isolated bone lesions to multisystem disease.
Features- bone pain, typically in the skull or proximal femur
- cutaneous nodules
- pituitary involvement: leads to diabetes insipidus due to pituitary stalk involvement
- pulmonary involvement: More common in adults, presenting with dyspnoea, cough, and chest pain
- recurrent otitis media/mastoiditis
- tennis racket-shaped Birbeck granules on electromicroscopy
- biopsy: confirmation is through biopsy showing Langerhans cells with characteristic grooved nuclei and positive staining for CD1a and S100 protein
- imaging: radiographs and MRI for bone lesions; CT may be used for chest and abdominal involvement
- localized disease: surgical resection or limited radiotherapy for isolated lesions.
- multisystem disease: systemic therapy including steroids, chemotherapy (e.g., vinblastine, cytarabine), and targeted therapies for refractory cases.
- supportive care: management of diabetes insipidus, pain control, and treatment of secondary infections.
