Ped

Question 1

diagnostic criteria: mastocytosis

Answer 1

> 25% BM mast cell infiltrates, extracutaneous;
serum tryptase>20ng/ml;
KIT mutation/cytometry

Question 2

Mastocytosis

pGx:​

Answer 2

1. Origin: mast cells derive CD34+ BM precursors, C KIT GENE (chr 4q12,CODON 816) activating mutations;
2. Organs involved skin liver spleen GIT BM(systemic)
3. mast cell mediators: preformed(histamine heparin, tryptase, chemotactic factors); newly
   formed(PG, LT, PAF); Cytokines(TNFa, IL4-8, GMCSF)
4. triggers: exercise/heat/trauma; alcohol,NSAIDS, salicylate, narcotics,polymyxin B,GA(anaphylaxis;propofol safe)

Question 3

Workup mastocytosis

Answer 3

1. BX(no adrenaline) +stains Giemsa,leder, toluidine blue, CAE,
2. ROS: fever LOW,+LN/HSP(US, CT LFT); NL:headache/cogitive;
3. (symptomatic)- FBC(BM? eos-kit mutation c816), serum tryptase>20ng/ml;
4. BM(immunophenotype, cytogenetic) GIT(endoscopy) bone pain/#(osteoporosisXray/bone scan); cardiac(CP/palpitation/syncope)

Question 4

Rx mastocytosis

Answer 4

:avoid meds/triggers; post op 24H monitoring;
H1/H2 AH(GIT- cimetidine/ranitidine); sodiumcromoglycate;
systemic-refer hematology-chemo; standby epipen/pred

Question 5

LCH new Cx​:

Answer 5

​ 1.Single(single/multi-site-skin, LN, bone) vs
multi-system(high-BM,liverspleen, lung, low risk,
CNS-risk -facial bones, sinuses, maxilla )

Question 6

LCH Px

Answer 6

1- LC ​BM origin, ​clonal ​neoplastic, BRAFV600E mutation

2-S100/langerin/CD1a + EM- birbeck granules

Question 7

LCH DDX

Answer 7

histiocytosis, mastocytosis,

seb derm, intertrigo, varicella,

Question 8

Workup-LCH

Answer 8

1-skin biopsy,
2-solid organ/ ALL,
3-multisystem-marrow-hematologic, hepatosplenomegaly, pulmonary, renal, skeletal, CNS

Question 9

LCH Poor prognostic-

Answer 9

multisystem, poor response 6w Rx 40-50% mortality

Question 10

Rx LCH

Answer 10

Rx- skin only- topicals, PUVA,

multisystem-chemoRx, bone- curretage

Question 11

WHO: mastocytosis

Answer 11

Cutaneous vs systemic(indolent, agressive);

mast cell sarcoma/leukemia/extracutaneous