Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Neurology: Neuroimmunology & Neuroinflammation COVID-19 Article Hub
    • Diversity, Equity, & Inclusion (DEI)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Neurology: Neuroimmunology & Neuroinflammation COVID-19 Article Hub
    • Diversity, Equity, & Inclusion (DEI)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center
  • Home
  • Articles
  • Issues
  • COVID-19 Article Hub
  • Infographics & Video Summaries

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Neuroimmunology & Neuroinflammation
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues
  • COVID-19 Article Hub
  • Infographics & Video Summaries

Share

April 2016; 3 (2) Clinical/Scientific NotesOpen Access

Degos disease mimicking primary vasculitis of the CNS

Sabrina Gmuca, Markus D. Boos, Amanda Treece, Sona Narula, Lori Billinghurst, Tricia Bhatti, Pablo Laje, Marissa J. Perman, Arastoo Vossough, Brian Harding, Jon Burnham, Brenda Banwell
First published February 2, 2016, DOI: https://doi.org/10.1212/NXI.0000000000000206
Sabrina Gmuca
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Markus D. Boos
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Amanda Treece
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Sona Narula
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lori Billinghurst
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Tricia Bhatti
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Pablo Laje
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Marissa J. Perman
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Arastoo Vossough
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Brian Harding
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Jon Burnham
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Brenda Banwell
From Children's Hospital of Philadelphia (S.G., A.T., S.N., L.B., T.B., P.L., M.J.P., A.V., B.H., J.B., B.B.), PA; and Seattle Children's Hospital (M.D.B.), WA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Degos disease mimicking primary vasculitis of the CNS
Sabrina Gmuca, Markus D. Boos, Amanda Treece, Sona Narula, Lori Billinghurst, Tricia Bhatti, Pablo Laje, Marissa J. Perman, Arastoo Vossough, Brian Harding, Jon Burnham, Brenda Banwell
Neurol Neuroimmunol Neuroinflamm Apr 2016, 3 (2) e206; DOI: 10.1212/NXI.0000000000000206

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
1015

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

A 4-year-old boy developed a headache. Initial evaluation revealed a normal neurologic examination and a right subdural hygroma on CT. Worsening headaches led to hospitalization at an outside institution. MRI showed leptomeningeal enhancement; magnetic resonance angiography (MRA) was normal. Infectious, rheumatologic, hematologic, and CSF studies were unrevealing. He then developed a left-sided hemiparesis. Imaging showed increased leptomeningeal enhancement with punctate infarcts in the right hemisphere. CT angiography demonstrated irregularity involving branches of the circle of Willis suggestive of vasculitis. Methylprednisolone (30 mg·kg−1·d−1 × 5 days) was administered for presumed CNS vasculitis.

Despite continued glucocorticoid therapy, the patient developed increasing left-sided weakness. Repeat imaging showed perivascular inflammation. Headaches continued and examination revealed left-sided hemiparesis, new-onset right leg weakness, bilateral clonus, and extensor plantar responses. IV cyclophosphamide (dosed every 2 weeks for 4 doses; titrated to 1,000 mg/m2) was initiated for presumed CNS vasculitis. Rituximab (750 mg/m2 × 2 doses) and IV immunoglobulin (2 g/kg divided over 4 days) were added for worsening MRI findings. However, he developed new multifocal infarcts. Infliximab (5 mg/kg) was initiated based on use in resistant CNS vasculitis.1 Two months after initial diagnosis, the patient was transferred to our institution for a second opinion.

Upon transfer, examination revealed weakness of the left face, arm, and leg; continued right leg weakness; a left homonymous hemianopsia; and bilateral clonus and extensor plantar responses. Spinal and brain MRI revealed multiple spinal cord lesions and acute infarcts in the anterolateral right pons. The patient developed right cranial nerve III palsy. He developed abdominal pain (attributed to neurogenic bladder and constipation). Abdominal and pelvic MRA and serologies did not demonstrate systemic vasculitis.

Based on his subdural fluid collections, abdominal pain, and the refractory nature of his vascular process, Degos disease was proposed as a unifying diagnosis.2 Previously rash-free, the patient was now noted to have a 4-mm porcelain white abdominal papule with central atrophy and an erythematous rim (figure, C). A papule with a dull pink-gray center and red telangiectatic rim was present on his right foot (figure, D). Skin biopsy revealed central epidermal atrophy with hyperkeratosis and increased dermal mucin and fibrin thrombi (figure, F). Small dermal vessels demonstrated degeneration of their walls, leading to a smudged appearance (figure, F). Eculizumab3 and treprostinil4 were initiated for presumed Degos.

Figure
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure Neurologic, gastrointestinal, and dermatologic findings

(A) Coronal section of the brain. In the right hemisphere, there are multiple hemorrhages in white matter, hippocampus, basal gray matter, and extensive hemorrhagic cortical infarction. (B) MRI fluid-attenuated inversion recovery image shows bilateral subdural collections (arrows) with extensive subacute infarcts and hemorrhage, predominantly on the right. (C) A 4-mm porcelain white papule with central atrophy and an erythematous rim on the patient's left abdomen. (D) Papule with a dull pink gray center and red rim present on the right medial plantar foot. (E) Deposition of membrane attack complex C5b-9 in vessel walls, immunoperoxidase ×10. (F) High-power view of the skin shows increased mucin (arrow) around dermal vessels. The vessel walls have a smudged appearance and 2 are filled with fibrin thrombi. (G) White porcelain lesions (arrow) on the proximal bowel serosa seen at autopsy. Microscopically, these areas show increased mucin, abnormal vessels with degenerating, smudged vessel walls, and thrombi in medium-sized vessels.

The patient developed worsening abdominal pain. He was found to have 3 gastric perforations, which were repaired. He developed right upper extremity myoclonic movements necessitating intubation for sedation. MRI demonstrated worsened right-sided and new left hemispheric leptomeningeal enhancement, as well as a new subacute right thalamic infarct extending to the brainstem (figure, B). Anti-VLA4 therapy (natalizumab; 5 mg/kg) was added to reduce CD4 T-cell access into the CNS. MRI 1 week later revealed increasing bilateral hemispheric disease and progression of the deep gray nuclei and brainstem lesions. Palliative care was provided; the patient died of respiratory failure after elective extubation.

Autopsy findings.

Multiple skin lesions were histologically similar to the initial skin biopsy. Scattered porcelain plaques were identified on the serosal surface of the small bowel corresponding to areas of mucin deposition in the serosa and thrombosis of small to medium-sized vessels on histology (figure, G). There was evidence of impending distal small bowel perforation. The areas of prior repair in the stomach showed thrombosis of small to medium-sized vessels with necrosis. Neuropathology (brain and spinal cord) revealed extensive CNS vasculopathy, with multiple foci of hemorrhage and infarction (figure, F). There were fibrin plugs in capillaries, venules, and arterioles in both the CNS parenchyma and leptomeninges. Deposition of membrane attack complex (C5b-9) was demonstrated in the cortical vessel walls (figure, E).

Discussion.

Degos disease (malignant atrophic papulosis) is a rare multiorgan thrombo-obliterative disorder. With systemic disease, median survival time is approximately 2 years, with a 3-year survival rate of less than 50%.5,6 Pathognomonic skin lesions facilitate a diagnosis. These small (0.5–1 cm) skin lesions are usually located on the trunk and extremities and exhibit central porcelain white atrophy with a surrounding telangiectatic rim.7 There are fewer than 200 cases of Degos reported in the literature, and it is exceedingly uncommon in children.7

This case demonstrates the challenges of diagnosing and treating rare inflammatory CNS vasculopathies in children. As in our case, Degos disease may present with isolated neurologic manifestations prior to the development of its cutaneous and gastrointestinal manifestations. The presence of subtle yet unique skin lesions in combination with neurologic complications, including subdural fluid collections, provide critical clues to the diagnosis of this rare disease.

Footnotes

  • Author contributions: Dr. Gmuca is the corresponding author and drafted the original manuscript and helped finalize the manuscript prior to submission. Dr. Boos revised the manuscript and added additional information and images with regards to the dermatologic aspects of the case. Drs. Treece and Harding revised the manuscript and drafted the information relevant to the pathologic findings and also contributed images for the manuscript. Drs. Perman, Laje, Burnham, Narula, and Billinghurst edited and revised the final manuscript. Dr. Vossough corrected and added information with regards to the radiology findings and contributed images to the manuscript. Dr. Banwell made multiple revisions to the work from the drafting stages through the final revisions of the manuscript and provided intellectual oversight.

  • Study funding: No targeted funding.

  • Disclosure: S. Gmuca, M.D. Boos, and A. Treece report no disclosures. S. Narula received research support from the National Multiple Sclerosis Society. L. Billinghurst, T. Bhatti, and P. Laje report no disclosures. M.J. Perman's spouse holds a patent for compositions and methods for treatment of HSCT-associated thrombotic microangiopathy. A. Vossough is on the editorial board of the American Journal of Neuroradiology, receives royalties from Oxford University Press, has consulted for Banyan, and received research support from NIH. B. Harding reports no disclosures. J. Burnham received research support from NIH, Children's Hospital of Philadelphia, and Lupus Foundation of America; and was an expert witness for Smith, Hulsey & Busey. B. Banwell is on the scientific advisory board for Biogen-Idec, Sanofi, Eli Lilly, and Novartis; receives speaker honoraria and/or travel support from Biogen-Idec, Merck-Serono, Teva Neuroscience, and Bayer; is on the editorial boards of Neurology® and Multiple Sclerosis and Related Disorders; has consulted for Biogen-Idec, Eli Lilly, and Sanofi; has spoken an event supported by the Consortium of MS Centers; and received research support from Multiple Sclerosis Society of Canada, Multiple Sclerosis Scientific Research Foundation, and National Multiple Sclerosis Society. Go to Neurology.org/nn for full disclosure forms. The Article Processing Charge was paid by the authors.

  • Received December 1, 2015.
  • Accepted in final form January 4, 2016.
  • © 2016 American Academy of Neurology

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.

References

  1. 1.↵
    1. Batthish M,
    2. Banwell B,
    3. Laughlin S,
    4. et al
    . Refractory primary central nervous system vasculitis of childhood: successful treatment with infliximab. J Rheumatol 2012;39:2227–2229.
    OpenUrlFREE Full Text
  2. 2.↵
    1. Karaoğlu P,
    2. Topçu Y,
    3. Bayram E,
    4. et al
    . Severe neurologic Involvement of Degos disease in a pediatric patient. J Child Neurol 2014;29:550–554.
    OpenUrlAbstract/FREE Full Text
  3. 3.↵
    1. Magro CM,
    2. Wang X,
    3. Garrett-Bakelman F,
    4. Laurence J,
    5. Shapiro LS,
    6. DeSancho MT
    . The effects of eculizumab on the pathology of malignant atrophic papulosis. Orphanet J Rare Dis 2013;8:185.
    OpenUrl
  4. 4.↵
    1. Shapiro LS,
    2. Toledo-Garcia AE,
    3. Farrell JF
    . Effective treatment of malignant atrophic papulosis (Kohlmeier-Degos disease) with treprostinil: early experience. Orphanet J Rare Dis 2013;8:52.
    OpenUrl
  5. 5.↵
    1. Fernández-Pérez ER,
    2. Grabscheid E,
    3. Scheinfeld NS
    . A case of systemic malignant atrophic papulosis (Köhlmeier-Degos' disease). J Natl Med Assoc 2005;97:421–425.
    OpenUrlPubMed
  6. 6.↵
    1. Scheinfeld N
    . Malignant atrophic papulosis. J Natl Med Assoc 2007;32:483–487.
    OpenUrl
  7. 7.↵
    1. Theodoridis A,
    2. Makrantonaki E,
    3. Zouboulis CC
    . Malignant atrophic papulosis (Kohlmeier-Degos disease): a review. Orphanet J Rare Dis 2013;8:10.
    OpenUrl

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis

Dr. Robert Pitceathly and Dr. William Macken

► Watch

Related Articles

  • No related articles found.

Alert Me

  • Alert me when eletters are published

Recommended articles

  • Article
    Sarcoplasmic MxA expression
    A valuable marker of dermatomyositis
    Akinori Uruha, Atsuko Nishikawa, Rie S. Tsuburaya et al.
    Neurology, December 30, 2016
  • Brief Communications
    Necrotizing myopathy with pipestem capillaries and minimal cellular infiltration
    A case associated with cutaneous signs of dermatomyositis
    F. J. Authier, H. Kondo, R. T. Ghnassia et al.
    Neurology, May 01, 1996
  • Clinical/Scientific Notes
    Brachio-cervical inflammatory myopathy with associated scleroderma phenotype and lupus serology
    Andrew F. Gao, Philip A. Saleh, Charles D. Kassardjian et al.
    Neurology: Neuroimmunology & Neuroinflammation, October 27, 2017
  • ARTICLES
    Meningeal biopsy in intracranial hypotension
    Meningeal enhancement on MRI
    B. Mokri, J. E. Parisi, B. W. Scheithauer et al.
    Neurology, October 01, 1995
Neurology - Neuroimmunology Neuroinflammation: 10 (3)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Education
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Neuroimmunology & Neuroinflammation
Online ISSN: 2332-7812

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise