Clinical features and presentation

• Patients usually present with symptoms of mediator release: urticaria, flushing, dermatographism, pruritus, angioedema; paroxysmal hyper- or hypotension; abdominal pain, dyspepsia, diarrhoea and malabsorption (80% of SM), multiple peptic ulcers, haemorrhage; wheezing, dyspnoea, rhinorrhoea; neuropsychiatric symptoms (headache, fatigue, irritability, cognitive disorganisation, nightmares); bone pain (25%).

• Most cases are seen in infants and children; involvement is generally limited to the skin; commonest forms are solitary cutaneous tumours (mastocytomas) or widespread cutaneous involvement with a few or many small lightly pigmented red-brown macules and papules (urticaria pigmentosa). Usually transient; begins in first year of life and disappears at puberty.

• Adult urticaria pigmentosa is associated with small heavily pigmented macular lesions; onset in young adults; often progressive with systemic organ involvement usually bone marrow (46%), lymph nodes (~25% at diagnosis), spleen (~50% at diagnosis), liver and GI tract.

• Familial mastocytosis causes cutaneous disease in infancy, persists into adult life and may progress to systemic involvement; rare.

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