Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations
Mariana Castells1, Dean D Metcalfe, Luis Escribano
1Department of Medicine, Division of Rheumatology, Immunology, and Allergy, Brigham Womens Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Insights
Cutaneous mastocytosis in children, often presenting as urticaria pigmentosa, is typically benign. Most cases resolve by puberty, with rare progression to systemic disease.
Area of Science:
- Pediatric Dermatology
- Hematology
Background:
- Cutaneous mastocytosis (CM) is a pediatric skin condition.
- It often presents as urticaria pigmentosa (maculopapular mastocytosis).
- Symptoms include pruritus, flushing, and abdominal pain, triggered by various stimuli.
Purpose of the Study:
- To provide an overview of cutaneous mastocytosis in children.
- To discuss diagnosis, management, and prognosis.
Main Methods:
- Clinical diagnosis based on presentation and skin biopsy.
- Bone marrow studies indicated for suspected systemic progression or persistent symptoms post-puberty.
- Treatment involves antihistamines and cromolyn sodium.
Main Results:
- Majority of pediatric CM cases achieve remission by puberty.
- Progression to systemic mastocytosis is uncommon.
- Malignant evolution is extremely rare, discouraging chemotherapy.
Conclusions:
- Cutaneous mastocytosis in children is generally a benign, self-limiting condition.
- Management focuses on symptom control and monitoring for systemic involvement.
- Bone marrow evaluation and aggressive therapies are typically unnecessary.
Abstract:
Cutaneous mastocytosis in children is a generally benign disease that can present at birth and is often associated with mast cell mediator-related symptoms including pruritus, flushing, and abdominal pain with diarrhea. The most common form of presentation is urticaria pigmentosa, also referred to as maculopapular mastocytosis. Flares of lesions are induced by triggers such as physical stimuli, changes in temperature, anxiety, medications, and exercise. The skin lesions are typically present on the extremities. Symptoms respond to topical and systemic anti-mediator therapy including antihistamines and cromolyn sodium. Remission at puberty is seen in a majority of cases. Progression to systemic mastocytosis with involvement of extracutaneous organs is not common. The cause of cutaneous mastocytosis is unknown and familial cases are rare. Mutations of c-kit have been observed in the skin of those affected. The diagnosis is established on clinical grounds and the findings on skin biopsy. Bone marrow studies are recommended if there is suspicion of progression of disease to an adult form, if cytoreductive therapy is contemplated, or if skin lesions remain present and/or tryptase levels remain elevated after puberty. The use of chemotherapy, including kinase inhibitors, is strongly discouraged unless severe hematologic disease is present, since malignant evolution is extremely rare.
