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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cutaneous mastocytosis


Other Names for this Disease
  • Mastocytoma
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Tests & Diagnosis

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How is cutaneous mastocytosis diagnosed?

A diagnosis of cutaneous mastocytosis is typically suspected based on the presence of suspicious signs and symptoms. A skin biopsy that reveals a high number of mast cells (immune cells that are important for the inflammatory response) confirms the diagnosis.[1][2]

Unfortunately it can sometimes be difficult to differentiate cutaneous mastocytosis from systemic mastocytosis. Additional tests may, therefore, be ordered to further investigate the risk for systemic disease. A bone marrow biopsy and specialized blood tests may be recommended in adults with cutaneous mastocytosis since they are at a higher risk for systemic mastocytosis. Affected children typically do not undergo a bone marrow biopsy unless blood tests are abnormal.[3]
Last updated: 2/23/2015

References
  1. Mastocytosis. DermNet NZ. September 2014; http://dermnetnz.org/systemic/mastocytosis.html.
  2. Mastocytosis. NORD. April 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/441/viewAbstract.
  3. Mariana C Castells, MD, PhD; Cem Akin, MD, PhD. Evaluation and diagnosis of mastocytosis (cutaneous and systemic). UpToDate. September 2014; Accessed 2/23/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Mastocytoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.