Successful treatment with cladribine of Erdheim-Chester disease with orbital and central nervous system involvement developing after treatment of Langerhans cell histiocytosis.

INTRODUCTION: Erdheim-Chester disease (ECD) is a rare, systemic form of non-Langerhans cell histiocytosis of the juvenile xanthogranuloma family with characteristic bilateral symmetrical long bone osteosclerosis, associated with xanthogranulomatous extra skeletal organ involvement. In ECD, central nervous system (CNS) and orbital lesions are frequent, and more than half of ECD pa tients carry the V600E mutation of the protooncogene BRAF. The synchronous or metachronous development of ECD and Langerhans cell histiocytosis (LCH) in the same patients is rare, and the possible connection between them is still obscure. Cladribine is a purine substrate analogue that is toxic to lymphocytes and monocytes with good hematoencephalic penetration. CASE REPORT: We presented a 23-year-old man successfully treated with cladribine due to BRAF V600E-mutation-negative ECD with bilateral orbital and CNS involvement ECD developed metachronously, 6 years after chemotherapy for multisystem LCH with complete disease remission and remaining central diabetes insipidus. During ECD treatment, the patient received 5 single-agent chemotherapy courses of cladribine (5 mg/m2 for 5 consecutive days every 4 weeks), with a reduction in dose to 4 mg/m2 in a fifth course, delayed due to severe neutropenia and thoracic dermatomal herpes zoster infection following the fourth course. Radiologic signs of systemic and CNS disease started to resolve 3 months after the end of chemotherapy, and CNS lesions completely resolved within 2 years after the treatment After 12-year follow-up, there was no recurrence or appearance of new systemic or CNS xanthogranulomatous lesions or second malignancies. CONCLUSION: In accordance with our findings and recommendations provided by other authors, cladribine can be considered an effective alternative treatment for ECD, especially with CNS involvement and BRAF V600E-mutation-negative status, when interferon-alpha as the first-line therapy fails.

Case report of Mikulicz's disease: A modern concept of an old entity.

Introduction: Modern knowlegde defines Mikulicz´s disease as a part of immunoglobulin G4-related disease. The main feature is the presence of lymphoplasmacytic infiltrates, immunoglobulin G4 plasma cells positivity, distinctive storiform fibrosis and moderate eosinophilia. Case Report: A 59-years old male presented with a mild keratoconjuctivitis sicca and enlarged lacrimal and salivary glands during the last two years. Althought clinical presentation of the patient was typical, earlier testing did not pinpoint Mikulicz ´s disease. By typical clinical presentation, elevated serum immunoglobulin G4 level and histopathological finding of lacrimal glands tissue we diagnosed Mikulicz´s disease successfully treated with corticosteroid therapy. Conclusion: We reported the first case of IgG4-related Mikulicz´s disease in Serbia. Our report highlights IgG4-related Mikulicz` s disease as an important differential diagnosis with Sjögren`s syndrome and lymphoproliferative disease in rheumatological practice.

[Aneurysmal bone cyst of the frontal bone].

BACKGROUND: Aneurysmal bone cyst (ABC) is a benign, expansive, osteolytic lesion that mainly occurs in young people, and involves the skull bones only exceptionally. The origin of ABC is controversial: secondary reactive bone lesion, or primary disease that represents an independent nosological entity. Blunt head trauma was suggested as a possible etiological factor. CASE REPORT: A case of a 19-year-old man with primary ABC of the right frontal bone was reported. The lesion was totally excised through frontal craniotomy, and the skull bone defect primarily reconstructed with an acrilate cranioplasty. Five years after the surgery, the patient was without signs of local recurrence. CONCLUSION: Clinical and neuroradiological presentation of the skull ABC was not specific. Pathohistology confirmed the diagnosis. Total excision was the treatment of choice.