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Mastocytosis
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Mastocytosis
, Cutaneous Mastocytosis, Systemic Mastocytosis, Urticaria Pigmentosa
See Also
Mast Cell
Definitions
Mastocytosis
Abnormal proliferation and accumulation of
Mast Cell
s within various organ systems
May be limited to skin
Mast Cell
accumulation (Cutaneous Mastocytosis)
May be diffusely increased in
Bone Marrow
,
Spleen
, and liver (Systemic Mastocytosis)
Pathophysiology
Abnormal proliferation and accumulation of
Mast Cell
s within various organ systems
High number of
Mast Cell
s degranulate, releasing vasoactive agents (esp. Histamine)
Types
Cutaneous Mastocytosis
Isolated skin
Mast Cell
accumulation
Most cases are in children (80% of cases are age <1 year old)
Systemic Mastocytosis
Diffusely increased
Mast Cell
s in
Bone Marrow
,
Spleen
, and liver
Most cases are in adults (95% of adult cases)
Causes
Triggers for
Mast Cell
Degranulation
Medications (e.g.
Opioid
s,
NSAID
s, iodinated contrast,
Vancomycin
, general
Anesthesia
)
Physical stimuli (e.g.
Exercise
, extremes of
Temperature
, emotional stress)
Surgical procedures
Bites and Stings (e.g.
Insect Bite
s,
Animal Bite
s)
Findings
Cutaneous Mastocytosis
Pruritus
Urticaria Pigmentosa
Red-Brown
Macule
s or
Papule
s
Findings
Systemic Mastocytosis
Flushing
Pruritus
Nausea
Vomiting
Abdominal Pain
Anaphylaxis
(uncommon, severe cases)
Labs
Complete Blood Count
Anemia
-mild to moderate (50% of cases)
Eosinophilia
(25% of cases)
Monocytosis (50% of advanced cases)
Mastocytosis specific lab markers
Serum Tryptase >20 ng/ml (systemic mastocytocytosis)
Urine 24 hour collection for Histamine or Histamine Metabolites
Skin Biopsy of Urticaria Pigmentosa
Mast Cell
aggregation
Bone Marrow Biopsy
Spindle-shaped
Mast Cell
s
Distribution in perivascular, peritrabecular and intertrabecular areas
Other advanced testing
KIT
Gene
Mutation Analysis
Management
Symptomatic Management
Antihistamine
s for
Pruritus
Aspirin
for
Flushing
(adults)
Urticaria Pigmentosa
PUVA
Corticosteroid
s (severe cases)
Gastrointestinal Symptoms
Mast Cell
Stabilizers (e.g. Disodium Chromoglycate)
Proton Pump Inhibitor
s or
H2 Blocker
s (e.g.
Pepcid
)
References
Castells and Akin in Saini (2017) Mastocytosis Evaluation and Diagnosis, UpToDate, accessed 10/5/2020
Mahmoudi (2014)
Immunology
Made Ridiculously Simple, MedMaster, Miami, FL, p. 30-1
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