Rare Endocrinology News

Disease Profile


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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable



Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly pigmented) fungi. It can be associated with a variety of clinical syndromes including invasive sinusitis; nodules or abscesses beneath the skin; keratitis; lung masses; osteomyelitis; mycotic arthritis; endocarditis; brain abscess; and wide-spread infection.[1][2] Although the condition can affect anyone, it is most commonly diagnosed in people with suppressed immune systems (like those who have undergone an organ transplant) and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various antifungal medications.[1][2][3]

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

  • The Merck Manual for health care professionals provides information on Phaeohyphomycosis.
  • 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 Phaeohyphomycosis. Click on the link to view a sample search on this topic.


  1. Revankar SG. Phaeohyphomycosis. Infect Dis Clin North Am. September 2006; 20(3):609-620. https://www.ncbi.nlm.nih.gov/pubmed/16984871.
  2. Sanjay G. Revankar, MD. Phaeohyphomycosis. Merck Manual. November 2017; https://www.merckmanuals.com/professional/infectious-diseases/fungi/phaeohyphomycosis.
  3. Caviedes MP, Torre AC, Eliceche ML, Valdivia Monteros DC, Volonteri VI, Galimberti RL. Cutaneous phaeohyphomycosis. Int J Dermatol. 2017 Apr; 56(4):415-420. https://www.ncbi.nlm.nih.gov/pubmed/28295266.