Mastocytosis: An Overview of Its Impact and Management

Mastocytosis is characterized by an abnormal accumulation of mast cells in one or more organs. In children the most affected place is the skin. It encompasses a wide spectrum of diseases.

Mast cells are cells that are born in the bone marrow and are located in the inner layers of the skin and other body tissues. They have a specific function within the immune system of the individual. There are several types of mastocytosis:

• Cutaneous mastocytosis: exclusive skin involvement. They are benign and are the most common in children. Within cutaneous mastocytosis we can differentiate:
  • Solitary mast cell tumor;
  • Pigmented urticaria.
• Systematic mastocytosis: involvement of more than two tissues (the skin can be normal), such as the bone marrow, bone, liver, spleen or lymph nodes. It is a more severe and very rare type of mastocytosis in children.
• Malignant mastocytosis: it is a type of leukemia, very rare in children. It most often affects the elderly.

Causes

The cause of mastocytosis is unknown and it does not appear to be inherited. The cutaneous forms are typical of childhood, therefore, they are the ones that we will talk about.

Symptoms

• Solitary mastocytoma: Represents 10% of mastocytosis in childhood and consists of a single brown-pink or yellowish spot or skin lesion in which discoloration and vesicles can be observed. It is present from birth or appears during the first months of life. It is a cluster of mast cells that form a spot between 1-5 centimeters. Any friction on the stain can cause it to change color, make it bigger and red, and then return to its normal shape (this is called Darier's sign) The prognosis is very good since it disappears during childhood.
• Urticaria pigmentosa: It is the most frequent clinical form of mastocytosis and the most affected are infants and children. The child may have a skin lesion at birth but the most common is the appearance of outbreaks during the first two years of age. What is characteristic of these skin lesions is that when scratched they become red, itchy and enlarged (this is what is called Darier's sign). Many children with urticaria pigmentosa can develop flushing attacks (generalized redness) that can be accompanied by palpitations, headache, and vomiting or diarrhea. In severe cases, shock can occur. These flushing episodes can be triggered by some drugs, exercise, very hot baths, stress, alcohol, spices, shellfish or insect bites. The prognosis is very good and the lesions disappear at puberty, in 50% of cases and in another 25% in adult life.

Treatment

Children who have symptoms is essential treatment with antihistamines.