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Disease Profile

Idiopathic hypertrophic pachymeningitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Idiopathic hypertrophic cranial pachymeningitis; Idiopathic hypertrophic spinal pachymeningitis; Idiopathic hypertrophic craniospinal pachymeningitis

Summary

Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord.[1][2] IHP can be widespread or cause tumor-like lesions.[1] Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases ( rheumatoid arthritis, Sjogren’s syndrome, Wegener’s granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment.

Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare.[1] Surgery may be recommended for people with advanced or severe IHP.[2] Some people with IHP have no symptoms and may not need treatment.[1]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Idiopathic hypertrophic pachymeningitis. Click on the link to view a sample search on this topic.

References

  1. Hahn LD1, Fulbright R2, Baehring JM3. Hypertrophic pachymeningitis. J Neurol Sci. Aug 15, 2016; 367:278-83. Accessed 3/30/2017.
  2. Lee YC, Chueng YC, Hsu SW, Lui CC. Idiopathic Hypertrophic Cranial Pachymeningitis: Case Report with 7 Years of Imaging Follow-up. American Journal of Neuroradiology. January 2003; 24(1):119-123. https://www.ajnr.org/content/24/1/119.full. Accessed 3/30/2017.