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.^[31] 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.^[32]

Physical Examination

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

Skin lesion types are as follows:

Macules, papules, nodules, and plaques (see image below)

Lesion on the arm. Courtesy of Lee H. Grafton, MD.
View Media Gallery
Blisters and bullae in children (see image below)

Blistering lesion.
View Media Gallery
Diffuse induration
Isolated nodule or tumor

Skin distribution findings are as follows:

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^[33]

Skin lesion color, quantity, and size findings are as follows:

Yellow-tan to red-brown
From 1 to more than 1000
From 1 mm to several centimeters

Skin special characteristics are as follows:

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.
Diffuse cutaneous mastocytosis (DCM): This is rare and is characterized by mast cell infiltration of the entire skin.
Other: Large hemorrhagic bullous and infiltrative small vesicular variants occur. Blistering predominates in infancy, whereas grain-leather appearance of the skin and pseudoxanthomatous presentation develop with time. Anaphylactic shock may occur.

Liver findings include possible hepatomegaly, which is present in 40% of adult patients with systemic mastocytosis.

Spleen findings include possible splenomegaly, which is present in 50% of patients with systemic mastocytosis.

Cardiovascular findings include hypotension and tachycardia.

Gastrointestinal findings include abdominal pain, diarrhea, vomiting, and weight loss (frequency of involvement currently uncharacterized in patients with systemic mastocytosis).^[34]

Complications

Complications may include the following:

Possible transformation into a hematologic malignancy
Death secondary to mast cell degranulation
Mast cell leukemia

Differential Diagnoses

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Media Gallery

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.
Positive Darier sign on a child's back.
Urticaria pigmentosa on a child.

of 9

Author

Jacquiline Habashy, DO, MSc Resident Physician, Department of Dermatology, Western University of Health Sciences College of Osteopathic Medicine of the Pacific

Jacquiline Habashy, DO, MSc is a member of the following medical societies: American Osteopathic College of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

David T Robles, MD, PhD, FAAD Dermatologist, Oak Tree Dermatology

David T Robles, MD, PhD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

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, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Rosalie Elenitsas, MD Herman Beerman 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, American Medical Association, American Society of Dermatopathology, Pennsylvania Academy of Dermatology

Disclosure: Received royalty from Lippincott Williams Wilkins for textbook editor.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

Additional Contributors

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, Canadian Dermatology Association

Disclosure: Nothing to disclose.

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, United States and Canadian Academy of Pathology

Disclosure: Received consulting fee from Apsara for independent contractor.

Christin M Mastrodomenico, MD Louisiana State University School of Medicine-Shreveport

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

Disclosure: Nothing to disclose.

Acknowledgements

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