D3.298 - Monomorphic maculo-papular late age onset cutaneous mastocytosis

Monomorphic type of maculo-papular cutaneous mastocytosis (MPCM) can occur in children and adolescents with manifestations persisting into adulthood and transform into a systemic disease.

The level of serum tryptase,  ultrasound examination of the abdomen and cKIT gene was obtained from  an adolescent with a monomorphic type of MPCM. 

Disease onset occurred at age 12, when rashes appeared on  the back which gradsually increased. Recurrent stomatitis, headaches with nausea without vomiting, abdominal pain, and diarrhoea began with  school age episodes of fainting during exams. Previously the diagnosis of mastocytosis was not established. Later  clinical examination  demonstrated  rashes on the trunk and limbs with Darier's sign positive. Serum tryptase level exceeded the norm. Late onset  disease, elevated tryptase levels, neurological symptoms, and risk of anaphylaxis caused assessment of systemic disease. Ultrasound examination of the abdominal organs was performed. Mutation in the cKIT gene in peripheral blood was found.

Late onset (at the age of 12) disease, elevated tryptase levels, neurological symptoms and the risk of anaphylaxis provides evidence of  systemic form of  monomorphic type of maculo-papular cutaneous mastocytosis. Assessment of  tryptase level, mutation detection in the cKIT gene and ultrasound examination of abdominal organs can be useful for early diagnosis of systemic mastocytosis.