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Chapter 22 & 23 Urticaria, mastocytoses and rosacea > Mastocytoses and rosacea > Flashcards

Mastocytoses and rosacea Flashcards

1
Q

Classification of mastocytoses broadly

A

cutaneous and systemic

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2
Q

Types of cutaneous mastocytoses

A

UP
mastocytoma
TMEP
Diffuse cutaneous mastocytosis

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3
Q

Types of systemic mastocytosis (extracutaneous mast cells in at least 1 organ)

A

I indolent systemic
II mastocytosis with an associated haematological disorder (myeloproliferative, myelodysplastic)
III aggressive mastocytosis
IV Mast cell leukaemia

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4
Q

Mastocytomas are more likely to appear where

A

distal extremities

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5
Q

T/F pulmonary sx are common in mastocytosis

A

F

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6
Q

T/F 50% of UP will present in 1st year of life

A

F 84%

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7
Q

Mast cell concentrations in mastocytoams and childhood UP >40-150 x normal values vs adults 8x T/F

A

T

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8
Q

up to 60% of adults with mastocytoses have bone marrow involvement T/F

A

T

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9
Q

Clinical features of diffuse cutaneous mastocytosis

A

Skin is thickened and doughy but may be smooth. Skin folds are thickened and can distort facial features. Blistering after minor scratching or trauma is common and pruritus is intense. Pigmentation usually absent.

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10
Q

% of mastocytomas that appear at birth

A

10-35%

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11
Q

T/F adult UP is less likely to urticate with drier’s sign

A

T

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12
Q

darier’s sign can also occur when

A

JXG, neonates

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13
Q

Systemic mastocytosis criteria

A

1 major and 1 minor or 3 minor
Major: multifocal dense aggregates of mast cells >/= 15 in bone marrow or other tissues (not skin)
Minor: Bm or other tissue >25% mast cells atypical, KIT point mutation at codon 816, mast cells that coaxers CD117, CD2 and/or CD25, tryptase >/=20ng/mL

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14
Q

Bone marrow involvement in 70% adult onset

A

T

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15
Q

Systemic symptoms of systemic mastocytosis

A

abdominal pain, diarrhoea, N&V, weight loss , lymphadenopathy, bony pain, flushing, headache

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16
Q

Examination of someone with this

A

Check lymph nodes, HSM

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17
Q

How to bx if you suspect mastocytosis

A

inj lit without adrenaline adjacent to the lesion. Stains: touidine blue, giemsa, leder (not dependant on intact mast cell granules)

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18
Q

Ix if mastocytosis

A

Bx
FBC, eflts, tryptase, IL6 levels
haem opinion re BM or KIT mutational analysis
USS/CT if HSM or ado USS
Urinary n-methylhistamine, N-methylimidazoleacetic acid levels, PGD2M

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19
Q

% of children with mastocytomas vs UP

A

10-35% mastocytomas, 65% UP

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20
Q

T/F UP spares the palms and soles

A

T - also the central face, scalp

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21
Q

Bullous mastocytoses, resolve when and occur why?

A

resolve by 3-5

Result from the release of mast cell serine proteases

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22
Q

Which sites are more commonly involved in adult bony involvement?

A

spine, skull and pelvis (esp demineralisation, osteosclerosis and mixed)

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23
Q

Mastocytosis triggers

A

Temperature change, sun, rubbing
stress, sleep deprivation
drugs: aspirin, NSAIDS, morphine, codeine, cough meds, alcohol, LA, beta blockers, anticholinergics, vancomycin, amphotericin, thiamine, non depolarising muscle relaxants
Venoms
infections
surgery, contrast medial, dental and endoscopic procedures.

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24
Q

Safe drugs in mastocytosis

A

Lignocaine, fentanyl, midaz, propofol, ketamine, desflurane, pancuronium, vecuronium

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25
Q

Treatment of mastocytosis

A

oral antihistamines, H2 blockers, oral sodium cromoglycate
CS 1mg/kg maybe, CsA if severe
Epipen
oral puva
in severe disease IFNalpha2a and 2b, miltefosine, imatinib
splenectomy if hypersplenism.

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26
Q

Prognosis of mastocytosis

A

most resolve in childhood
50% by adolescence
10% of adults have spontaneous resolution

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27
Q

How to treat a severe attack with systemic mastocytosis

A

Epipen 300mcg adult, 150mcg child (10-20kg) IM, repeat after 5 min if required.
Make sure ppl around you know how to use it. Call an ambulanse ASAP as more doses may be required.
Store between 15-25 degrees, check expiry date.
20-40mg/day pred for 2-4 days

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28
Q

What to ask in terms of systemic sx in a patient with cutaneous mastocytosis

A

flushing, hypotension, anaphylaxis, diarrhoea, bleeding from GIT

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29
Q

follow up of mastocytosis

A

yearly FBC (looking for anaemia, leucocytosis, eosinophilia), elts (systemic involvement) lymphadenopathy, tryptase

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30
Q

1) Approximately 50 percent of patients develop mastocytosis before the age of 2 years?

T
F

A

T (55% according to bolognia)

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31
Q

2) Adult onset mastocytosis is slightly more common in women than men?

T
F

A

Ans F (no gender preference)

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32
Q

Mast cells are derived from pluripotent CD 32+ cells

T
F

A

Ans F ( They are derived from pluripotent CD34+ cells)

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33
Q

c-Kit mutations are the linking abnormality across ALL forms of Mastocytosis?

A

Ans F (all forms of mastocytosis have a variation of a c-Kit mutation except for the familial cases)

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34
Q

Approximately 35% of children with mastocytosis are asymptomatic at he time of diagnosis?

A

Answer F, (A majority of children are asymptomatic.)

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35
Q

Regarding the symptoms of Mastocytosis, the following are potential symptoms of mastocytosis

a) Headache

A

T

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36
Q

What syndrome may carcinoid by associated with?

A

MEN 1 - tumours of the pancreas, parathyroid and pituitary

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37
Q

Regarding the symptoms of Mastocytosis, the following are potential symptoms of mastocytosis c) Arrhythmia’s

A

T Palpitations, syncope and chest pain can occur.

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38
Q

Palpitations, syncope and chest pain can occurd) Reactive airways disease .

A

F, Mastocytosis does not usually affect the respiratory system.

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39
Q

F, Mastocytosis does not usually affect the respiratory system. Pathological fractures

A

F, Although Mastocytosis can cause bone pain due to osteoporosis and or osteosclerosis it does not commonly feature pathological fractures.

Other clinical presentations include Cognitive disorganisation, fatigue, bullae, flushing , pruritus, GIT cramping, diarrhea, epigastric pain, nausea, vomiting weight loss, chest pain, and dyspnoea (CV cause))

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40
Q

Extensive mast cell mediator release in mastocytosis can result in death?

A

T but very rarely

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41
Q

) Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis symptoms. - Friction to lesions

A

T

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42
Q

) Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis symptoms. Cold

A

F , Heat not cold can be a trigger.

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43
Q

Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis c) Vibration of the palms or soles

A

F, trauma to skin lesions directly produces symptoms.

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44
Q

Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis. Penicillin (beta-lactam based) antibiotics

A

F, Polymyxin B is the antibiotic associated with Mastocytosis

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45
Q

Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis.
e) Alcohol

A

T

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46
Q

Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis
NSAIDS?

A

T - particularly salicylates

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47
Q

Regarding the local triggers for mastocytosis. The following may result in an exacerbation of mastocytosis
g) First generation sedating antihistamines

A

F, Anticholinergic medications are triggers and although Antihistamines can have some anticholinergic side effects they do not exacerbate mastocytotis typically/

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48
Q

9) The most common presentation of childhood mastocytosis is Urticara pigmentosa (UP)?

A

T, Approximately 65% of cases are UP in early childhood with 10-35% being solitary Mastocytoma

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49
Q

Both cutaneous Mastocytoma and UP can present with a yellow-brown macule or macules respectively?

A

F, solitary mastocytoma are not macular, they are either plaque like or nodular, while UP may be Macular, or papular.
Aside from this the colour and texture of the lesions remains identical.

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50
Q

Urticaria Pigmentosa (UP) classically spares the lateral face, scalp, palms and soles.

A

F, Classically it spares the CENTRAL face, scalp, palms and soles.

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51
Q

Telengiectasia macularis eruptive perstans (TEMP) is a very rare manifestation of mastocytosis in children?

A

T

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52
Q

There is no textural difference in the lesions of childhood cutaneous diffuse mastocytosis and a solitary mastocytoma.

A

F, the lesions of DCM are typically leathery in appearance

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53
Q

A solitary mastocytoma typically develops a bullae with a strongly positive darrier’s sign?

A

F

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54
Q

In children Urticaria pigmentosa (UP) and Diffuse cutaneous mastocytosis ONLY are capable of developing bullae?

A

T Bulla are not a feature of a solitary mastocytoma.

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55
Q

The bullous lesions of mastocytosis tend to resolve by the age of 10 years.

A

F, typically they resolve by the age of 2-5 years of age.

56
Q

Regarding adult onset cutaneous mastocytosis

Telangiectasia macularis eruptive perstans (TMEP) is more common that cutaneous mastocytoma.

A

T, a solitary cutaneous mastocytoma is extremely rare although case reports do exist.

57
Q

The most common form of cutaneous mastocytosis in adults is multiple reddish/brown macules and papules

A

T

58
Q

Diffuse cutaneous mastocytosis appears the same clinically in adults as in children

A

F, Adult DCM appears more yellow- tan in colour with the lesions often having a doughy consistency. Often referred to as xanthelasmoidal mastocytosis.

59
Q

In advanced stages of adult diffuse cutaneous mastocytosis, skin fold thickening results in reduced range of Motion of the DIPJ.

A

F, although thickening of the skin folds does occur typically this distorts facial features.

60
Q

Darrier’s sign is commonly positive in telengictasia macularis eruptive perstans (TMEP) ?

A

, is rarely positive in this condition. DS is most likely to be positive in Childhood UP and mastocytomas, although is can be positive in some adult mastocytosis, it should not be relied apon to exclude the diagnosis.

61
Q

The hyperplasia of mast cells is approximately 3 fold higher in solitary mastocytoma than urticaria pigmentosa?

A

T, 150 fold increase and 40 fold increase respectively.

62
Q

Skeletal involvement in mastocytosis is more common in adults than children

A

T

63
Q

Radiolographically, radiolucencies OR radio-opacities might signal skeletal involvement with mastocytosis.

A

T, either or both may be detected.

64
Q

T/F periorificial dermatitis spares the cheeks and forehead

A

T

65
Q

Regarding the release of cytokines and mediators by mast cells.

a) Mast cells release TNF-α
b) Mast cells release IL-12
c) Mast cells release histamine as a preformed mediator.
d) Mast cell IL-6 has been demonstrated to induce OLY bone resorptive activities.

A

T
F
T
F, it hase been shown to induce both resorptive and fibrotic activity.

66
Q

In adults with systemic mastocytosis, infiltration is common in both the spleen and GIT tract?

A

T

67
Q

Lymph node enlargement is uncommon in adult mastocytosis

A

T, although the incidence increases with advancement of disease.

68
Q

All of the following are features of organic brain syndrome except:

a) Headache
b) Short term memory loss
c) Blunting of fine motor skills
d) Fatigue
e) Difficulty interacting with people

A

C, (Organic brain syndrome consists of irritability, fatigue, headache, poor attention span and motivation, limited short term memory, inability to work effectively, and difficulty interacting with other people.)

69
Q

The WHO criteria, classifies mastocytosis into how many categories.

a) 6
b) 8
c) 4
d) 9
e) 7

A

e. ( the classifications are: Cutaneous mastocytosis, Indolent Mastocytosis, Systemic mastocytosis and associated clonal haematological non-mast cell lineage disease (AHNMD), Aggressive Systemic mastocytosis, Mast cell leukaemia, Mast cell sarcoma and Extracutaneous mastocytoma)

70
Q

Considering adults AND Children, What classification of mastocytosis contains the largest number of patients?

a) Cutaneous mastocytosis
b) Indolent Systemic mastocytosis
c) Systemic mastocytosis with AHNMD
d) Aggressive systemic mastocytosis
e) Extracutaneous mastocytoma.

A

A

71
Q

What percentage of children with cutaneous mastocytosis with experience resolution of their disease by adolescence.

a) 70%
b) 35%
c) 40%
d) 50%
e) 10%

A

D

72
Q

What percentage of childhood onset mastocytosis persists into adulthood?

a) 5%
b) 10-15%
c) 5-10%
d) 15-20%
e) 40%

A

B 10-15%

73
Q

Indolent systemic mastocytosis, does not typically have cutaneous involvement.

A

F

74
Q

The differentiation between Indolent systemic mastocytosis and smouldering systemic mastocytosis is the presence or absence of B symptoms.

A

T, in both cases impairment of organ dysfunction is unlikely however SSM is associated with a higher disease burdon (such as hepatoslenomegaly lymphadenopathy and serum tryptase levels >200 nm/ml)

75
Q

Indolent systemic mastocytosis (ISM) progresses to more severe forms of disease in what percentage of cases. a) 15 %
b) >20%

A

a

76
Q

The diagnosis of mast cell leukaemia requires a peripheral blood nucleated cell population composed of 10%mast cells and bone marrow smears containing at least what percentage of mast cells?

a) 10%
b) 15%
c) 20%
d) 22%
e) 30%

A

C

77
Q

With regards to a cutaneous biopsy for mastocytois, what special stain can be employed to identify mast cells within the tissue.

a) toluidine Blue
b) Giemsa and Leder
c) CD117
d) A and B are correct
e) A, B And C are correct
d) None are correct

A

e

78
Q

CK117 Immunohistochemical staining can help identify more subtle case than Leder stain

T
F

A

T, the immunostain is specific for KIT ( more prominent in mastocytosis due to c-Kit mutations)

79
Q

Biopsy of normal appearing skin in a patient with Systemic mastocytosis is likely to reveal an elevated population of mast cells.

T
F

A

F, the abnormal populations of mast cells can only be demonstrated on skin biopsy in abnormal appearing skin.

80
Q

Alpha- tryptase levels are a better marker of total body mast cell burdon than Beta-tryptase?

T
F

A

T, although typically total (alpha and beta) levels are monitored

81
Q

The following are all minor criterion for the diagnosis of systemic mastocytosis except for:

a) > 25% of mast cells in bone marrow samples or extra-cutaneous tissues are spindle shaped or otherwise atypical
b) Extra-cutaneous mast cells (CD117+) express CD2, CD25 or both.
c) Presence of c-Kit codon 816 mutation in blood, bone marrow or extra-cutaneous tissue
d) Serum total tryptase level is persistently > 20ng/ml
e) Multifocal dense infiltrates of mast cells(aggregates of greater than or equal to 15 mast cells) in bone marrow or extracutaneous tissue.

A

E, this is a major criterion for CM, pt must have either major and one minor or 3 minor.

82
Q

Unmetabolised urinary Histamine levels can be used to monitor the extent of mast cell disease?

T
F

A

Ans F, often the urinary levels are low or normal in patients who have SM but are asymptomatic. A better measure is 1,4-methylimidazole acetic acid (MeImAA), which is a major metabolite of histamine.

83
Q

) Prompt Rx with combination chemotherapy within 3 months of first systemic symptoms of Systemic mastocytosis has a five year survival rate of 5 years.

T
F

A

F, there is no cure for the condition, rx is directed at symptomatic management only and avoiding triggers.

84
Q

Patients with mastocytosis can safely have intradermal injections of lignocaine.

T
F

A

T, unlike systemic lignocaine, local injects appear to be safe.

85
Q

All of the following are ideal first line H1 antihistamines except:

a) Cetirizine
b) Loratadine
c) Fexofenadine
d) Cimetedine

A

d, Second generation H1 antihistamine are preferred because of prolonged half-lives and more H1 specificity. While H2 receptor antagonists are useful in pt’s with prominent GIT symptoms, they are an adjunct.

86
Q

44) Topical CS use can be beneficial in relieving the local symptoms of pruritus in mastocytosis.

T
F

A

Ans T, Topical CS with or without occlusion for 6/52 is generally effective at reducing both pruritus and wheal formation.

87
Q

45) Patients with systemic mastocytosis should be provided for a prescription for an EpiPen.

T
F

A

Ans F, only those who are at risk of recurrent life threatening hypotension. Following mast cell mediator release should be prescribed with an EpiPen

88
Q

46) Oral prednisolone can effectively reduce the risk of recurrent hypotensive attacks following the initial event.

A

T recurrent attacks can hour within hours of the initial event and often Pred at 20-40mg/day for 2-4 days can minimise this risk.

89
Q

Imatinib mesylate (TKI) shows promise in altering the disease course for severe Systemic mastocytosis.

T
F

A

F, Imatinib mesylate is a tyrosine kinase inhibitor that targets the KIT and PDGF receptors, however it does this distally to the site of the most common D816 c-kit mutation therefore effecting symptoms and signs but not disease progression.

90
Q

Morbihan’s disease is asymptomatic swelling of the central upper face and fixed facial erythema T/F

A

T

91
Q

Rosacea due to EGFR inhibitors

occurs in 50%

A

F 90%

92
Q

Treatment of EGFR induced rosacea

A

100mg doxy bd

93
Q

T/F appendiceal only carcinoid tumours often cause flushing

A

F usually liver or pulmonary

94
Q

FACE:

A

facial-afro-caribeean childhood eruption.

95
Q

Flushing in carcinoid is due to serotonin T/F

A

F - is due to chalkier, which may act on kininogen to release bradykinin

96
Q

What syndrome may carcinoid by associated with?

A

MEN 1

97
Q

To dx carcinoid

A

5HIAA urine >40mg/24 hours, may need to be done with flushing episode
fasting plasma 5HIAA
platelet 5HT
USS/CT/octreotide receptor imaging

98
Q

non dermatological features of carcinoid

A

diarrhoea, abdo pain, CCF, asthma, weight loss

99
Q

flushing in carcinoid may be precipitated by foods such as avocado, bananas, chocolate

A

T

100
Q

Derm features of carcinoid syndrome

A

flushing - spontaneous or precipitated by foods.

pellagra like eruption due to diversion of tryptophan metabolism away from the synthesis of niacin

101
Q

If a patient complains of flushing, diarrhoea, abdominal pain and wheeze, the systemic illness which would concern you is a pheochromocytoma

A

F - carcinoid

102
Q

What to examine in a person who complains of flushing

A

Face - ?papules, pustules
abdo
weight - weight loss?
cutaneous signs of mastocytosis

103
Q

Investigations for systemic causes of flushing

A 
24 hour urine for: 5HIAA (carcinoid), vanillylmandelic acid, NA, A, dopamine, fractionated metanephrines (phaeo), PGD2 metabolites, n-methylhistamine (mastocytosis)
serum: 5HT, tryptase, histamine 
TFTs, calcitonin
urinalysis 
VIP level (pancreatic)
Ct/MRI if necessary
104
Q

Alcohol causes flushing due to a increased acetaldehyde which causes what

A

increased histamine release

105
Q

Ddx of flushing

A 
rosacea 
infection 
emotions, exercise, food
menopausal
carcinoid
phaeo
mastocytosis
MEN1
pancreatic cell tumour
renal cell CA 
drugs
106
Q

Which medications may cause flushing

A

nicotinic acid, tamoxifen, raloxifene, anastrozole, ca channel blockers, nitrates, sildenafil, ondansetron, acei, metronidazole, venlafaxine.

107
Q

What medications are known to have triggered pyoderma faciale?

A

interferon and ribavirin

108
Q

There is usually a hx of acne in patients with pyoderma faciale T/F

A

F

109
Q

Treatment of pyoderma faciale

A

pred 1mg/kg/day
then isotretinoin 0.2-0.5mg/kg/day
Other treatment oral abs, dapsone

110
Q

Who does idiopathic facial aseptic granuloma occur in?

A

children 8/12 to 13 years

111
Q

What is acne agminata aka

A

lupus miliaris disseminatus facei = FIGURES (facial idiopathic granulomas with regressive evolution)

112
Q

where does acne agminata occur?

A

eyelids, forehead, cheeks, chin, armpits

113
Q

Who gets acne agminata?

A

young adults usually

114
Q

Describe acne agminata

A

yellow brown or red papules or nodules that are monomoprhic and located on the cheeks and periorificial skin, foreheads and eyelids

115
Q

histo of acne agminata

A

epithelioid granulomas which may be caseating

116
Q

Ddx of acne agminata

A

sarcoidosis, TB, rosacea, GA, cutaenous leishmaniasis, acne, syphilis, trichoepitheliomas, syringomas

117
Q

T/F acne agminata persists for 10 years

A

F 2-3 years

118
Q

Acne agminata regresses without scarring

A

F with scarring

119
Q

acne agminata is considered a variant of roscea t/f

A

T

120
Q

Potential therapies for acne agminata

A

doxycycline, dapsone, isotretinion, low dose red or clofazimine
scar revision

121
Q

Corticosteroid induced rosacea requires 12 weeks to develop

A

F 8 weeks

122
Q

A late stage complication with fixed facial erythema and swelling of the central upper face is

A

morbihan’s disease

123
Q

What is the treatment of morbihan’s disease

A

prolonged low dose oral isotretinoin with systemic antihistamines

124
Q

What to advise everyone with rosacea (general measures)

A

education re diagnosis
avoid triggers, topical steroids to face
gentle cleanser and moisturiser
photoprotection

125
Q

Topical options in rosacea

A 
sodium sulfacetamide 10%
metronidazole 0.75% gel 
topical azalea acid 15% gel
brimonidine tartrate 0.5% 
tretinoin 0.05%
permethrin 5%
ivermectin 1% cream 
pimecrolimus 1%
126
Q

Systemic medications in rosacea

A

doxy, ees,
isotretinoin 0.3mg/kg
beta blockers eg carvedilol

127
Q

Chalazia and styes are common in ocular rosacea

A

T

128
Q

20% of ppl with rosacea are diagnosed with ocular disease first

A

T

129
Q

Hits of erythematotelangiectatic rosacea

A

dilatation of superficial blood vessels and low grade perivascular lymphohistiocytic inflammation with occasional plasma cells

130
Q

Men>Women have rosacea overall T/F

A

F women except for rhinophyma

131
Q

risk factors for rosacea

A

caucasions, genetic predisposition
fair skinned
women>men expect for rhinophynia
women >50 with migraines

132
Q

rosacea increases your risk of CVD

A

T

133
Q

Transient odema is sign that the rosacea is in the progressive stage

A

F (early)

134
Q

What is gnathophyma

A

phyamtous rosacea of the central chin

135
Q

What is metophyma

A

phyamtous rosacea of the central forehead

136
Q

What is otophyma

A

phymatous rosacea of the lower half of the helices and lobes

137
Q

Tx of rhinophymatous rosacea

A

isotretinoin
surgical excision
electrosurgery
CO2 laser

Chapter 22 & 23 Urticaria, mastocytoses and rosacea (4 decks)

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