Skip to main content

Main menu

  • Home
  • Content
    • Latest
    • Archive
    • home
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
    • Join SMJ
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Advertising
    • Alerts
    • Feedback
    • Folders
    • Help
  • Other Publications
    • NeuroSciences Journal

User menu

  • My alerts
  • Log in

Search

  • Advanced search
Saudi Medical Journal
  • Other Publications
    • NeuroSciences Journal
  • My alerts
  • Log in
Saudi Medical Journal

Advanced Search

  • Home
  • Content
    • Latest
    • Archive
    • home
  • Info for
    • Authors
    • Reviewers
    • Subscribers
    • Institutions
    • Advertisers
    • Join SMJ
  • About Us
    • About Us
    • Editorial Office
    • Editorial Board
  • More
    • Advertising
    • Alerts
    • Feedback
    • Folders
    • Help
  • Follow psmmc on Twitter
  • Visit psmmc on Facebook
  • RSS
OtherClinical Image
Open Access

A 36-year-old man with arthralgia and bone pain

Fahdah Alokaily and Reem Alkathiri
Saudi Medical Journal September 2018, 39 (9) 951-953; DOI: https://doi.org/10.15537/smj.2018.9.23589
Fahdah Alokaily
From the Division of Rheumatology (Alokaily), Department of Medicine, Prince Sultan Military Medical City, and from the College of Medicine (Alkathiri), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
MD
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: [email protected]
Reem Alkathiri
From the Division of Rheumatology (Alokaily), Department of Medicine, Prince Sultan Military Medical City, and from the College of Medicine (Alkathiri), Alfaisal University, Riyadh, Kingdom of Saudi Arabia
Medical Student
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • eLetters
  • Info & Metrics
  • References
  • PDF
Loading

Clinical Presentation

A 36-year-old man presented to Rheumatology Clinic complaining of bilateral knee pain for 4 years, aggravated by movement and relieved by rest. He used to take NSAID and analgesics. There was no joint swelling, no morning stiffness, or other joint involvement. Past medical history was unremarkable. Clinical examination showed swelling of the upper part of left tibia medially, which was slightly warm.

Laboratory investigations showed slightly elevated ESR=34, and slightly elevated platelets=597. CBC, LFT, urea and creatinine RF, Anti-CCP, ANA, ANCA were all negative. The patient had x-ray of the knees, tibias (Figure 1 A & 1B) and humerus (Figure 1C & 1D). It showed bilateral mottling and heterogeneous texture of the visualized bones. The rest of skeletal survey including pelvis and skull was normal. Computed tomography (CT scan) of the left knee and legs showed extensive intramedullary sclerosis with thick trabiculation associated with a spare areas at the metaepiphysis around the knee joints (Figure 2). He had bone technetium scan (TC-99), there is intense symmetrical radiotracer uptake seen involving the distal 2/3rd of both femoral bones, whole tibial bones, mid segment of humeral shafts, both ulnar and radial bones as well as tarsal bones bilaterally. There is also uptake in the right clavicle, mandible and maxilla (upper alveolar margin) (Figure 3).

Figure 1
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 1

X-ray of the knees, tibias (a,b) and Humerus (c,d) showed bilateral mottling and heterogeneous texture of the visualized bones.

Figure 2
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 2

CT of the knee and legs showed extensive intramedullary sclerosis with thick trabiculation associated with a spare areas at the metaepiphysis around the knee joints.

Figure 3
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 3

Bilateral symmetrical intense radiotracer uptake of the long bones.

Question

1. What is the differentiated diagnosis?

Answers

  1. Paget’s disease

  2. Gaucher’s disease

  3. Erdhiem - Chester disease

The patient underwent bone biopsy from the left upper tibia (Figure 4).

Figure 4
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 4

Diffuse infiltration by foamy histiocytes (Black arrow) and fibrosis and rare Touton-like giant cells (white arrow).

Question

  1. What is the diagnosis?

Answer

  1. Erdhiem - Chester disease

Erdheim-Chester disease

Erdheim-Chester disease (ECD) is a rare form of a non-langerhans histiocytic disorder. Originally, it was known as “Lipid Granulomatosis” by Jakob Erdheim in 1930.1 It is a multifocal disorder characterized by osteosclerotic lesions affecting the long bones.

Erdheim-Chester disease has numerous signs and symptoms. The symptoms are mainly due to skeletal involvement that occurs in 96% of patients. Bone pain is the most common consequence of skeletal involvement. It usually manifests around the knees and ankles. However, it occurs in only about 50% of cases.2 The bones more commonly affected are the femur, tibia, and fibula and less commonly the ulna, radius, and humerus. The differential diagnosis (DDx) includes, Paget’s disease, osteomyelitis, and lymphoma.

Moreover, ECD may progress to the central nervous system (CNS) and its adjacent structures. Central nervous system involvement is seen in 51% of patients and is responsible for 29% of deaths. Central diabetes insipidus is the most common manifestation of CNS involvement in ECD. Exophthalmos, cerebellar ataxia, and panhypopituitarism may also occur. The DDx is mainly Langerhans cell histiocytosis. Erdheim-Chester disease may progress to involve the cardiovascular system leading to congestive heart failure, myocardial infarction, and thromboembolism among others. Also, periaortic fibrosis is the most common cardiovascular lesion. The DDx of cardiac involvement in ECD is a cardiac myxoma. Pulmonary involvement associated with ECD occurs in 43% of patients. It can be diagnosed by detecting typical histiocyets in the lung. Due to the fact that ECD is a known cause of interstitial lung disease, radiological hallmarks of interstitial lung disease is highly likely to be ECD. The DDx of pulmonary involvement in ECD includes, interstitial pneumonia and pulmonary Langerhans’ cell histiocytosis.

ECD may involve the retroperitoneal space. However, it is mainly asymptomatic involvement. The DDx includes idiopathic retroperitoneal fibrosis (Ormond’s disease).

Moreover, a number of general symptoms may be associated with ECD. They include, fever, weight loss, weakness, and night sweats. The histological appearance typically seen in ECD is CD68(+), CD1a(−), S-100(−/low) non langerhans cell histiocytes. Also, ECD lesions of a pulmonary origin are positive for factor XIIIa. Microscopically, xanthogranulomatosis, proliferating fibroblasts, lack of eosinophils, lymphocytic aggregates and Touton giant cells are noticed. The diagnosis of ECD depends on histological and radiological criteria. The histological criterion is the most important to diagnose ECD and are sufficient to confirm the diagnosis. The imaging studies used to diagnose ECD are radiographs and Tc-99m MDP Bone Scintigraphy. The radiographs will demonstrate bilateral symmetric osteosclerotic lesions, whereas Tc-99m MDP Bone Scintigraphy show abnormally strong labeling of the distal ends of the long bones.

Due to the rarity of the disease, no treatment plan is universally accepted. One of the widely used drugs is systemic corticosteroids. They are used to control the symptoms; however, they are only transiently effective. Also, interferon-a successfully stabilizes the disease in the majority of cases.3 The adverse effects of interferon- a include asthenia, pruritis, myalgia, and thrombocytopenia. An alternative to interferon-a is Peginterferon alfa-2a. Chemotherapy only provided temporary relief. Also, if the lesions grew rapidly, then surgical debulking may be attempted. All in all, treatment is mainly dependent on the stabilization of the disease.

Footnotes

  • Notice: Authors are encouraged to submit quizzes for possible publication in the Journal. These may be in any specialty, and should approximately follow the format used here (maximum of 2 figures). Please address any submissions to: Editor, Saudi Medical Journal, Prince Sultan Military Medical City, PO Box 7897, Riyadh 11159, Kingdom of Saudi Arabia. Tel. +966 (11) 4777714 Ext. 42841.

  • Copyright: © Saudi Medical Journal

This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

References

  1. ↵
    1. Mazor RD,
    2. Manevich-Mazor M,
    3. Shoenfeld Y
    (2013) Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis 8:137.
    OpenUrlCrossRefPubMed
  2. ↵
    1. Adawi M,
    2. Bisharat B,
    3. Bowirrat A
    (2016) Erdheim-Chester disease (ECD): Case report, clinical and basic investigations, and review of literature. Medicine (Baltimore) 95:e5167.
    OpenUrl
  3. ↵
    1. Braiteh F,
    2. Boxrud C,
    3. Esmaeli B,
    4. Kurzrock R
    (2005) Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha. Blood 106:2992–2994.
    OpenUrlAbstract/FREE Full Text
PreviousNext
Back to top

In this issue

Saudi Medical Journal: 39 (9)
Saudi Medical Journal
Vol. 39, Issue 9
1 Sep 2018
  • Table of Contents
  • Cover (PDF)
  • Index by author
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on Saudi Medical Journal.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
A 36-year-old man with arthralgia and bone pain
(Your Name) has sent you a message from Saudi Medical Journal
(Your Name) thought you would like to see the Saudi Medical Journal web site.
Citation Tools
A 36-year-old man with arthralgia and bone pain
Fahdah Alokaily, Reem Alkathiri
Saudi Medical Journal Sep 2018, 39 (9) 951-953; DOI: 10.15537/smj.2018.9.23589

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Share
A 36-year-old man with arthralgia and bone pain
Fahdah Alokaily, Reem Alkathiri
Saudi Medical Journal Sep 2018, 39 (9) 951-953; DOI: 10.15537/smj.2018.9.23589
Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Bookmark this article

Jump to section

  • Article
    • Clinical Presentation
    • Question
    • Answers
    • Question
    • Answer
    • Erdheim-Chester disease
    • Footnotes
    • References
  • Figures & Data
  • eLetters
  • References
  • Info & Metrics
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • No citing articles found.
  • Google Scholar

More in this TOC Section

  • The man who thought he was kicked from behind
  • Scalp roof tiles.
  • A child with congenital amputation of the foot
Show more Clinical Image

Similar Articles

CONTENT

  • home

JOURNAL

  • home

AUTHORS

  • home
Saudi Medical Journal

© 2025 Saudi Medical Journal Saudi Medical Journal is copyright under the Berne Convention and the International Copyright Convention.  Saudi Medical Journal is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3175. Print ISSN 0379-5284.

Powered by HighWire