Rare Endocrinology News

Disease Profile

Nephrogenic Systemic Fibrosis

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.

Unknown

Age of onset

-

ICD-10

-

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

NSF; Nephrogenic Fibrosing Dermopathy; NFD

Categories

Skin Diseases

Summary

Nephrogenic systemic fibrosis is a condition that affects different parts of the body, particularly the skin. Symptoms of the condition may include progressive swelling and tightening of the skin, sometimes resulting in contractures, and pruritis (itching). The skin findings are similar to those seen in patients with scleroderma. Nephrogenic systemic fibrosis was first described in 1997.[1] Being exposed to gadolinium-containing contrast agents during MRI testing has been identified as a significant risk factor for development of this disease.[2]

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.

Where to Start

  • The International Scleroderma Network (ISN) provides information on nephrogenic fibrosing dermopathy since the skin symptoms of NFD are scleroderma-like. Click on the ISN link to view the information.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nephrogenic Systemic Fibrosis. Click on the link to view a sample search on this topic.

References

  1. Sweeney S, Cropley TG. Cutaneous Changes in Renal Disorders. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Katz SI, eds. Fitzpatrick's Dermatology in General Medicine. Vol 2. 6th ed. United States: The McGraw-Hill Companies, Inc.; 2003: 1623..
  2. Nephrogenic systemic fibrosis. Mayo Foundation for Medical Education and Research. https://www.mayoclinic.org/nephrogenic-systemic-fibrosis/. Accessed 4/24/2013.