Mastocytosis is a rare form of disorders characterized by overproliferation and accumulation of mast cells in various organ. In Mastocytosis most frequently involved organ is skin, but bone marrow, central nervous system, skeleton and gastrointestinal tract may also be involved. WHO has classified Mastocytosis to different types like Cutaneous mastocytosis, Systemic mastocytosis, Indolent systemic mastocytosis, Mast cell leukemia, Mast cell sarcoma and others. We here will be foccusing on a subtype of Cutaneous mastocytosis, which is Diffuse cutaneous mastocytosis.
Diffuse cutaneous mastocytosis is an extremely rare subtype of Cutaneous mastocytosis that usually occurs in children younger than 3 years. It present as erythema and scaling involving nearly the entire skin. The skin may be either normal or covered with minute papules of red or red to yellow color which looks like grained leather. Itching may generally be severe and generalised. There may be blister formation initially in infants which may sometimes be confused with neonatal blisters. This might be the first presentation of Diffuse cutaneous mastocytosis.
Due to its widespreading nature and heavy mast cell load children may have vomiting, diarrhoea, abdominal pain and most often have risk of gastrointestinal bleeding , hypotention, shock, and even death. Few children may also have risk of systemic involvement. So all children with this disorder are advised to avoid potential triggering factors and mast cell degranulating agents such as aspirin, NSAIDS, narcotics, anticholinergics, friction and rapid temperature changes.
Treatment usually based on symptomatic management. H1 and H2 antihistamines are given which decrease itching, flushing, and gastrointestinal symptoms. H2 antihistamine control both itching and oversecretion of gastric acid, which further protects from the development of ulcers and gastritis, thus limiting the chances of GI bleeding. Oral disodium cromoglycate may also lessen the blisters, pruritus and gastrointestinal symptoms.
Majority of children with Diffuse cutaneous mastocytosis may begins to improve or totally resolve after the age of 5. Blisters and bullae usually resolves without any scar formation. Oral psoralen plus UVA (PUVA) therapy have been tried and results in reduce general symptoms and for cosmetic benefits. However, If more then 200 treatment session are required, there may be risk of skin cancer. PUVA rarely is used in children, unless its severe and unresponsive to other treatment.