Solitary Radiolucent Erdheim-chester Disease: A Case Report and Literature Review

Background: Erdheim-chester disease (ECD) is a rare non-Langerhans histiocytosis of unknown etiology, which typically presents with bilateral symmetric osteosclerosis and multi-organ involvement. Lesions may be intraosseous or extraosseous and involve the heart, pulmonary system, CNS, and skin in order of decreasing likelihood. Objective: The objective of this study is to discuss a case of erdheim-chester disease and conduct a review of the literature. Case: We describe a rare case of erdheim-chester in an asymptomatic 37-year-old male who was diagnosed after suffering a right ulnar injury. Subsequent evaluation revealed a solitary radiolucent ulnar lesion without multi-system involvement. Results & Conclusion: The case is unique in its solitary distribution, lytic radiographic appearance, and asymptomatic presentation preceding pathologic fracture. This presentation may simulate multiple other bone lesions.

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Erdheim chester disease: A case report and review of the literature

Case Reports in Clinical Pathology ◽

10.5430/crcp.v7n1p22 ◽

2020 ◽

Vol 7 (1) ◽

pp. 22

Author(s):

Rémie Philippe Elia ◽

ATALLAH Adnan ◽

AKIKI Béatrice ◽

WAKED Hani ◽

ZEIDAN Marwan ◽

...

Keyword(s):

Case Report ◽

Braf V600e ◽

Bone Lesions ◽

Review Of The Literature ◽

Rare Form ◽

Immune Profile ◽

Systemic Involvement ◽

Erdheim Chester Disease ◽

Erdheim Chester ◽

Chester Disease

Erdheim Chester disease is a rare form of non-Langerhans histiocytosis with frequent BRAF V600E mutations. It is mainly characterized by multifocal osteosclerotic bone lesions with or without systemic involvement. The histologic image is consistent with a histiocytic proliferation of foamy cells in a polymorphic background. The main difference from the Langerhans histiocytosis is the immune profile with mainly S100, CD1a, and langerin negative. The overall prognosis is dependent on extraskeletal involvement. Herein, we present a typical presentation of Erdheim Chester disease with a review of the literature.

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Isolated thoracic intramedullary Erdheim-Chester disease presenting with paraplegia: a case report and literature review

BMC Musculoskeletal Disorders ◽

10.1186/s12891-021-04061-7 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Ikchan Jeon ◽

Joon Hyuk Choi

Keyword(s):

Surgical Resection ◽

Fdg Pet ◽

Rare Case ◽

Systemic Disease ◽

Mass Lesion ◽

Erdheim Chester Disease ◽

Pet Ct ◽

Fdg Pet Ct ◽

Erdheim Chester ◽

Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare, idiopathic, systemic non-Langerhans cell histiocytosis involving long bone and visceral organs. Central nervous system (CNS) involvement is uncommon and most cases develop as a part of systemic disease. We present a rare case of variant ECD as an isolated intramedullary tumor. Case presentation A 75-year-old female patient with a medical history of diabetes and hypertension presented with sudden-onset flaccid paraparesis for 1 day. Neurological examination revealed grade 2–3 weakness in both legs, decreased deep tendon reflex, loss of anal tone, and numbness below T4. Leg weakness deteriorated to G1 before surgery. Preoperative magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed an intramedullary mass lesion at T2-T4 with no systemic lesion, which was heterogeneous enhancement pattern with cord swelling and edema from C7 to T6. Gross total removal was achieved for the white-gray-colored and soft-natured intramedullary mass lesion with an ill-defined boundary. Histological finding revealed benign histiocytic proliferation with foamy histiocytes and uniform nuclei. We concluded it as an isolated intramedullary ECD. The patient showed self-standing and walkable at 18-month with no evidence of recurrence and new lesion on spine MRI and whole-body FDG-PET/CT until sudden occurrence of unknown originated thoracic cord infarction. Conclusions We experienced an extremely rare case of isolated intramedullary ECD, which was controlled by surgical resection with no adjuvant therapy. Histological examination is the most important for final diagnosis, and careful serial follow-up after surgical resection is required to identify the recurrence and progression to systemic disease.

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