Mastocytosis Flashcards

1
Q

Mastocytosis

A

disorders of mast cell hyperplasia, can have cutaneous and/or systemic organ involvement and can have an onset of childhood or adult. 2 main types: cutaneous and systemic

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2
Q

Pathogenesis of Mastocytosis

A

KIT mutation (tryosine kinase) and CD34

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3
Q

Skin symptoms mastocytosis

A

frequently, only cutaneous: bullae, flushing, pruritus, urticaria.

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4
Q

Systemic symptoms mastocytosis

A

brain: HA, fatigue. GI cramping, N.V.D, Cardiac: chest pain, palpitations, dizzy. Bone pain.

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5
Q

Childhood lesions: Urticaria Pigmentosa (UP)

A

Tan, brown macules on the trunk. Sparaing the central face, soles and palms. 65% of all cutaneous forms. Can develop bullae, resolve between ages 3-5.

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6
Q

Childhood lesions: Mastocytoma

A

solitary, yellowish tan to brown plaque on the distal extremities. 10-35% of all cutaneous forms

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7
Q

Childhood lesions: Diffuse Cutaneous Mastocytosis

A

very rare, erythematous to yellow tan papules and plaques that become confluent Can develop bullae, resolve between ages 3-5.

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8
Q

Adult onset lesions

A

1cm reddish brown macules on trunk and proximal extremities most commonly but may appear on palms, soles and face. Can resolve w out treatment but total number of lesions will increase

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9
Q

Telangectasia Macularis Eruptiva Perstans (TMEP)

A

Rare. Macules/papules w telangiectasias and diffuse cutaneous mastocytosis. “doughy: appearance to the skin, lesions will become confluent and skin folds become thickened

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10
Q

Darier’s Sign

A

formation of a urticarial lesion when a suspected mastocytosis lesion is vigorous lly stroked. Clinical confirmation of Mastocytosis.

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11
Q

Classification system, indolent type

A

most common, cutaneous findings, very limited if any systemic findings

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12
Q

Classification system, smoldering type

A

cutaneous findings, elevated serum tryptase levels and heptosplenomegaly

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13
Q

Classification system, aggressive type

A

cutaneous findings, mast cells in bone, liver, GI, spleen. Cytopenia, leukocytosis, thrombocytopenia, very high serum tryptase. Short life expectancy

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14
Q

Dermatopathology for mastocytosis

A

“fried egg” appearance of mast cells and eosinophils. Giemsa stain is needed.

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15
Q

Lab testing for mastocytosis

A

serum tryptase levels, alpha protryptase levels, 24 hr urine for n-methyl-histamine release, plasma histamine levels. No histamine rich foods before testing: wine, yogurt, cheese, chicken liver, tomatoes, spinach

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16
Q

Step 1 in Dx Mastocytosis

A
  1. biopsy skin. If + mast cells –> evaluate for a KIT mutation
17
Q

Step 2 in Dx Mastocytosis

A

assess for fever, weight loss, GI symptoms, bone pain. If GI –> endoscopy. If bone pain –> bone scan/radiographs

18
Q

Step 3 in Dx Mastocytosis

A

Assess lymphadenopathy and hepatosplenomegaly. If + –> CT scan and liver function test. If + –> bone marrow bx

19
Q

Step 4 in Dx Mastocytosis

A

CBC with Diff, if abnormal –> bone marrow bx

20
Q

Step 5, if only positive in skin lesion bx

A

get baseline serum truptase level and monitor the tryptase periodically

21
Q

When do lesions resolve in uritcaria v. urticaria pigmentosa

A

urticaria: 24 hours, UP: do not resolve

22
Q

Mastocytomas can be confused with

A

cafe au lait macules, arthropod bites, spitz nevus, pseudolymphomas

23
Q

Tx Mastocytosis

A

No cure, goal is to alleviate symptoms. Avoid mast cell degranulation through avoiding alcohol, anticholinergics, asa, nsaids, systemic anesthetics, heat, friction, narcotics, polymyxin b sulfate

24
Q

Topicals for Mastocytosis

A

potent corticosteroids w occlusion, IL kenalog

25
Q

Systemic tx Mastocytosis

A

h1 and h2 receptor antagonists (allegra + pepcid), cromolyn sodium (mast cell stabilizer) 400-800mg/day, PUVA 4x/wk, PO Prednisone. Aggressive types: interferon a2b, chemo IV cladribine