Mastocytosis Clinical Presentation

  • Author: Daniel J Hogan, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jun 4, 2010
 

History

Mastocytosis patients may present with cutaneous lesions, systemic symptoms of an acute nature, and/or chronic systemic symptoms.

  • Most patients have pruritic cutaneous lesions.
  • Some patients, especially those with extensive cutaneous disease, experience acute systemic symptoms exacerbated by certain activities or ingestion of certain drugs or foods. Possible systemic symptoms include flushing, headache, dyspnea, wheezing, rhinorrhea, nausea, vomiting, diarrhea, and syncope.
  • Patients also may have chronic systemic symptoms involving various organ systems.
    • Involvement of the skeletal system may be manifested as bone pain or the new onset of a fracture. Long-term exposure to heparin and stem cell factor from degranulated mast cells is believed to put patients at risk for osteoporosis.[12]
    • Involvement of the central nervous system may produce neuropsychiatric symptoms, as well as nonspecific changes such as malaise and irritability.
    • GI involvement may yield weight loss, diarrhea, nausea/vomiting, and abdominal cramps.
    • Cardiovascular effects can include shock, syncope (resulting from vascular dilatation), or angina.
    • Anaphylactic reactions to hymenoptera stings may be the first sign of mastocytosis.
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Physical

The most common physical findings in mastocytosis involve the skin, liver, spleen, and cardiovascular system.

  • Skin - Lesion types
    • Macules, papules, nodules, and plaques (see image below)Lesion on the arm. Courtesy of Lee H. Grafton, MD.Lesion on the arm. Courtesy of Lee H. Grafton, MD.
    • Blisters and bullae in children (see image below)Blistering lesion. Blistering lesion.
    • Diffuse induration
    • Isolated nodule or tumor
  • Skin - Distribution
    • Widespread symmetric distribution
    • Trunk involved more than extremities
    • Tendency to spare the face, scalp, palms, and soles; however, a patient with scarring alopecia has been reported[13]
  • Skin - Lesion color, quantity, and size
    • Yellow-tan to red-brown
    • From 1 to more than 1000
    • From 1 mm to several centimeters
  • Skin - Special characteristics
    • Darier sign: Wheal and surrounding erythema develop in a lesion after rubbing it.
    • Dermatographism: In approximately half the patients, stroking macroscopically uninvolved skin produces dermographia.
    • Flushing: Flushing may occur spontaneously following skin stroke or after ingesting a mast cell degranulating agent.
  • Liver - Possible hepatomegaly (present in 40% of adult patients with systemic mastocytosis)
  • Spleen - Possible splenomegaly (present in 50% of patients with systemic mastocytosis)
  • Cardiovascular - Hypotension and tachycardia
  • Gastrointestinal - Abdominal pain, diarrhea, vomiting, weight loss (frequency of involvement currently uncharacterized in patients with systemic mastocytosis)[14]
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Causes

Mastocytosis probably is a hyperplastic response to an abnormal stimulus. Rare cases of familial urticaria pigmentosa have been recorded.[15] Rarer cases of cutaneous mastocytosis have been associated with radiotherapy fields in patients with breast cancer.[16]

One case report describes an apparent temporal association between the development of cutaneous mastocytosis and HIV seroconversion, proposing similarities of immunoglobulin E receptors on mast cells and basophils and the association of basophils in HIV pathophysiology.[17]

Autism spectrum disorders may be increased in children with mastocytosis.[18]

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Contributor Information and Disclosures
Author

Daniel J Hogan, MD  Clinical Professor of Internal Medicine (Dermatology), Nova Southeastern University College of Osteopathic Medicine; Investigator, Hill Top Research, Florida Research Center

Daniel J Hogan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, and Canadian Dermatology Association

Disclosure: Nothing to disclose.

Coauthor(s)

Christin M Mastrodomenico  Louisiana State University School of Medicine-Shreveport

Christin M Mastrodomenico is a member of the following medical societies: American Medical Association, Louisiana State Medical Society, and Student National Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Timothy McCalmont, MD  Director, UCSF Dermatopathology Service, Professor of Clinical Pathology and Dermatology, Departments of Pathology and Dermatology, University of California at San Francisco; Editor-in-Chief, Journal of Cutaneous Pathology

Timothy McCalmont, MD is a member of the following medical societies: Alpha Omega Alpha, American Medical Association, American Society of Dermatopathology, California Medical Association, College of American Pathologists, and United States and Canadian Academy of Pathology

Disclosure: Apsara Consulting fee Independent contractor

Richard P Vinson, MD  Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD  Herman Beerman Associate Professor of Dermatology, University of Pennsylvania School of Medicine; Director, Penn Cutaneous Pathology Services, Department of Dermatology, University of Pennsylvania Health System

Rosalie Elenitsas, MD is a member of the following medical societies: American Academy of Dermatology and American Society of Dermatopathology

Disclosure: Lippincott Williams Wilkins Royalty Textbook editor; DLA Piper Consulting fee Consulting

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Virginia Pylant Lewis, MD, to the development and writing of this article.

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Urticaria pigmentosa lesions on the face of a child. Courtesy of Lee H. Grafton, MD.
Urticaria pigmentosa lesions on the back of a child. Courtesy of Lee H. Grafton, MD.
Lesion on the scalp of an infant.
Lesion on the arm. Courtesy of Lee H. Grafton, MD.
Blistering lesion.
Hematoxylin and eosin stain revealing mast cells in the papillary dermis.
Giemsa stain revealing mast cells.
 
 
 
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