Mastocytosis (urticaria pigmentosa, skin disease)

Description Mastocytosis is cau...

Description

Mastocytosis is caused by an abnormal growth of mast cells. Mast cells are anti-inflammatory cells made in the bone marrow. They release the chemical histamine. Histamine causes swelling, itching and redness and is one of the substances responsible for an allergic reaction. This disorder can occur at any age but is most often seen in children. Many times the disease will resolve on its own in puberty. The most common site for the increased number of mast cells is in the skin although other areas such as the intestines can be affected. The symptoms are caused by a trigger such as exposure to cold or heat, certain medications, insect stings, or emotional stress. Symptoms can be isolated to the skin or can involve the entire body and at times be life threatening.

Symptoms

Skin symptoms include a red itchy rash, hives, red to brown blotches that resembles freckles and skin swelling after itching. Abdominal pain and diarrhea can occur. Some patients can have what looks like a life-threatening allergic reaction consisting of fainting, sweating, confusion, low blood pressure and breathing problems.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical exam will be done. A skin biopsy and/or a urine test for histamine may be performed.

Specialists:
Internal Medicine, Dermatology, Pediatrics, Family Practice, Allergy and Immunology, Pediatric Allergy and Immunology, Pediatric Dermatology, Telemedicine Dermatology

Treatment

Skin symptoms are treated with antihistamines and over the counter steroid creams. Patients with severe reactions should have a medical alert bracelet and carry a self-injectable epinephrine pen. Patients should try to avoid any triggers that cause their symptoms. Some patients have problems with general anesthesia and they should notify their provider of their condition before any medical procedure.