Mastocytosis

Question 1

Epidemiology of mastocytosis

Answer 1

Children: less than 2yo, usually cutaneous only and often spontaneously regress
Adults: more commonly systemic

Question 2

What are the three types of cutaneous mastocytosis

Answer 2

Urticaria pigmentosum
Solitary mastocytoma
Diffuse cutaneous mastocytosis

Question 3

Solitary mastocytoma presentation

Answer 3

Reddish brown nodules/plaques with + dariers sign usually on extremities. Lesions present at birth or w/in 3mo

Question 4

Urticaria pigmentosa

Answer 4

Well demarcated red to brown thin plaques on trunk usually by age 2. Can develop more lesions with time. Can develop bullae within

Question 5

Telangiectasia macularis eruption perstans

Answer 5

Most rare cutaneous mastocytosis. Limited to adults. Clinically see red-brown telangiectatic macules with irregular borders

Question 6

Two diffuse cutaneous mastocytosis types

Answer 6

Diffuse erythrodermic cutaneous mastocytosis (orange peel skin)
pseudoxanthomatous mastocytosis

Question 7

Systemic mastocytosis adult vs. adolescent

Answer 7

Almost all adults with onset of mastocytosis in the skin have systemic involvement
- higher likelihood of malignant transformation in adults

Question 8

Dx of systemic mastocytosis

Answer 8

Darier’s sign, staining tissue for Giemsa or toluidine blue, urine n-methylhistamine, KIT Asp816Val mutation (PCR test), serum tryptase level

Question 9

Prognosis of of systemic mastocytosis

Answer 9

If <3yo, very favorable

age 7-10, higher likelihood of continuing into adulthood