Paeds malignancy, haem, derm Flashcards

1
Q

What type of tumour are the majority of CNS tumours in children?

A

Astrocytoma (pilocystic astrocytoma = most common)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Where are astrocytomas found?

A

Cerebellum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Where are medulloblastomas found?

A

Cerebellum

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where are ependymomas found?

A

Posterior fossa

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is the WHO grade for pilocystic astrocytoma?

A

Grade I

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What syndrome is associated with pilocystic astrocytoma?

A

Neurofibromatosis 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

How will pilocystic astrocytoma appear on MRI?

A

Cerebellar, well-circumscribed, cystic and enhancing

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What mutation is most common in pilocystic astrocytoma?

A

BRAF

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Recall the signs and symptoms of pilocystic astrocytoma

A

Headaches (worst in morning)
Gait problems, co-ordination problems
Visual changes
Vomiting on waking
Failure to thrive
Behaviour/ personality change
Later sign = papilloedema due to raised ICP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is the typical picture of benign intracranial HTN (not malignant cause)?

A

Normal MRI, normal exam, papilloedema, 14y/o, high BMI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Which investigation is most appropriate in investigating an astrocytoma?

A

MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the specialised member of the MDT in childhood cancer cases?

A

CLIC Sargent (cancer and leukaemia in children social worker)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is the first-line management for astrocytoma?

A

Surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Which CNS tumours can be treated with radiotherapy?

A

Gliomas and metastases

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Which CNS tumours can be treated with chemotherapy?

A

High grade gliomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What % of ALL is B lineage vs T lineage?

A

85% B, 15% T

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What % of leukaemia is ALL vs AML in children?

A

80% ALL, 20% AML

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Recall the signs and symptoms of ALL

A

BM failure (anaemia, thrombocytopaenia, neutropaenia)
Local infiltration –> lymphadenopathy, hepatosplenomegaly, bone pain, testes/CNS
Leukaemia cutis = petechial rash on face + trunk

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is raised in tumour lysis syndrome?

A

Potassium, LDH, phosphate, uric acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What will be seen on CXR in ALL?

A

Enlarged thymus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What results of BM biopsy would be diagnostic of ALL?

A

> 20% blasts in BM/ peripheral blood
Immunological and cytological characteristics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What should be the immediate management of a high WCC in ALL?

A

TLS needs to be reduced: allopurinol and hyperhydration

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

How many years of chemotherapy are necessary in ALL?

A

2-3 years
Boys are treated for longer because testes are a site of accumulation of lymphoblasts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What therapies can be given alongside chemotherapy in ALL?

A

CNS-directed therapy (if LP is negative initially)
Molecular treatment
Transplantation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What types of molecular treatment are available for ALL?

A

Imatinib (TK inhibitor) for Ph +ve cases
Rituximab (monoclonal antibodies against CD20 for B cell depletion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What age group are NHL/HL most common in?

A

NHL = childhood
HL = adolescence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Which of NHL/HL is more likely to be localised to one nodal site?

A

Hodgkin’s lymphoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Compare the spread of HL vs NHL

A

HL = spreads contiguously to adjacent lymph nodes
NHL involves multiple sites and spreads sporadically

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Recall the signs and symptoms of HL

A

Painless cervical lymphadenopathy
B symptoms are uncommon, even in advanced disease
Painful on drinking alcohol (in 10%)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Recall the investigations and results that are standard for HL

A

LN biopsy: Reed Sternberg cells
PDG-PET/ CT staging: Ann Arbor
Bloods: FBC, ESR, LFTs, LDH, Alb (prognostic markers)
Immunophenotyping (CD30, CD15 - diagnostic markers)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

How should HL be managed?

A

Combination chemotherapy (ABVD) and radiotherapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

Recall the chemotherapy regime used in paediatric HL

A

ABVD
Adriamycin
Bleomycin
Vincristine
Dacarbazine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Recall the signs and symptoms of NHL

A

Painless lymphadenopathy +/- compression syndrome
B symptoms - fever, weight loss, night sweats

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

Recall the useful investigations and their results in NHL

A

LN/BM biopsy for cytology, histology and immunophenotyping
PDG-PET/ CT staging - Ann Arbor
Bloods - FBC, ESR, LFTs, LDH, Alb (prognostic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

Recall the management approach dependent on the type of NHL

A
  1. Urgent chemo
  2. Monitor only
  3. Abx eradication - H pylori gastric MALToma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What chemotherapy regime is used in NHL?

A

R-CHOP
Rituximab
Cyclophosphamide
H - adriamycin??
O - vincristine???
Prednisolone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is Burkitt’s lymphoma a type of?

A

B cell NHL

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

What are the different variants of burkitt’s lymphoma - and what are their different causes?

A

Endemic (EBV)
Sporadic (EBV)
Immunodeficiency (HIV)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

Why is endemic Burkitt’s so common in Africa?

A

Chronic malaria reduced EBV resistance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What part of the body does Burkitt’s lymphoma affect?

A

JAW/ facial bones

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

What type of cell does burkitt’s lymphoma arise from?

A

Germinal centre cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

What is the histopathological appearance of burkitt’s lymphoma?

A

Starry sky

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What translocation is most common in burkitt’s lymphoma?

A

t(8;14)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What is the prognosis for burkitt’s lymphoma?

A

Really bad as fastest growing human tumour known

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

Where does osteosarcoma tend to occur?

A

Long bones - 60-75% in the knee

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Recall the signs and symptoms of osteosarcoma

A

Relatively painless
Mass/ swelling
Restricted movement

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Where does osteosarcoma tend to metastasise to?

A

Lung

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What will be shows on XR in osteosarcoma?

A

Soft tissue calcification - sunburst appearance
Elevated periosteum = Codman’s triangle

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What investigations should be done following XR in suspected osteosarcoma?

A

Biopsy
CT/MRI/PET

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

How should osteosarcoma be managed?

A

Specialised sarcoma team
Surgery + chemo
Post-treatment OT/PT/ orthotics etc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the surgical management of osteosarcoma?

A

Limb-sparing surgery +/- amputation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What is the prognosis for osteosarcoma?

A

Poor - 60% 5 year survival

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What is the difference between osteosarcoma and Ewing’s sarcoma?

A

Osteosarcoma forms bone
Ewing’s sarcoma forms mesenchymal tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

How does Ewing’s sarcoma appear under the microscope?

A

Small round blue cell tumour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

What is the median age of Ewing’s sarcoma development?

A

15y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

Where does Ewing’s sarcoma develop?

A

Long bones - arms, chest etc

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What translocation is associated with Ewing’s sarcoma?

A

t(11:22)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What are the signs and symptoms of Ewing’s sarcoma?

A

Mass/ swelling and bone pain (no pain in osteosarcoma)
Malaise, fever, paralysis (may precipitate osteomyelitis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What investigations are appropriate to investigate Ewing’s sarcoma?

A

XR
Biopsy
CT/PET/MRI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

What would be seen on XR in Ewing’s sarcoma?

A

Bone destruction with overlying onion-skin layers of periosteal bone formation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What is the main management of Ewing sarcoma?

A

Surgery + VIDE chemotherapy + radiotherapy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What management should be given post-treatment for osteosarcoma?

A

OT, PT, dietician, orthotics/ prosthetics

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Which cells have undergone malignant transformation in retinoblastoma?

A

Retinal cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What is the main difference in presentation between hereditary and spontaneous retinoblastoma?

A

Hereditary is nearly always bilateral whereas spontaneous is unilateral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

Recall the pattern of inheritance of retinoblastoma

A

Autosomal dominant mutation on chromosome 13

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

Recall the 2 key signs and symptoms of retinoblastoma

A

Negative red reflex
Squint

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

Recall the 2 key investigations in retinoblastoma

A

MRI and EUA (examination under anaesthetic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

How should retinoblastoma be treated?

A

Enucleation ( eye removal)
Chemotherapy (BL) + laser treatment to retina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What is the average age of diagnosis of retinoblastoma?

A

18 months

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What type of tissue and where does neuroblastoma arise?

A

Neural crest tissue in adrenal medulla and SNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What is a benign tumour of the same tissue as neuroblastoma originates from called?

A

Ganglioneuroma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

Which gene is associated with a poor prognosis for neuroblastoma?

A

N-MYC

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

Where is the mass most likely to be found in neuroblastoma?

A

Abdomen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

Recall the symptoms of neuroblastoma

A

Systemic: WL, pallor, hepatosplenomegaly, bone pain, limp

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

What additional symptoms of neuroblastoma are likely in people under 2 years?

A

Symptoms of metastases (poorer prognosis in under 1s)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

What urinary abnormality may be seen in neuroblastoma?

A

Urinary catecholamine metabolites eg VMA/HVA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

How should neuroblastoma be managed?

A

In very young infants spontaneous regression can occur
If localised primaries with no metastases –> surgery alone
If metastatic: chemotherapy + radio (with autologous stem cell rescue) + surgery

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

In general, which haematological disorders are autosomal dominant vs recessive?

A

Dominant = generally structural disorders
Recessive = generally metabolic disorders

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

Which genetic abnormality predisposes women to haemophilia?

A

Turner’s syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

When is haemophilia most likely to present, and with what symptoms?

A

At around 1y, as this is when walking (and therefore falling) begins
Haemarthrosis
Suspicions of NAI (if no FH)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

How does haemophilia present if it presents at neonatal age?

A

Intracranial haemorrhage
Bleeding circumcision
Prolonged bleeding from venepuncture

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

Which measures of clotting time are normal vs prolonged in haemophilia?

A

PT normal, APTT prolonged(PT is extrinsic, APTT is intrinsic)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

In girls, what is the top alternative differential for the same signs and symptoms as haemophilia?

A

vWD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

How should mild haemophilia be managed?

A

Desmopressin - this stimulates f8 and vWF release

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

How should severe haemophilia be managed?

A

Prophylactic factor replacement via Hickman line

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

How should minor bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate - raise to 30% normal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

How should major bleeds be managed in haemophilia?

A

IV infusion of f8/9 concentrate - raise to 100%, then maintain at 30% for 2w

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

What is the other name for idiopathic thrombocytopaenic purpura?

A

Immune TP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

In what age group is ITP seen?

A

2-6y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

What is the most common cause of ITP?

A

Viral infection - ITP presents about 1-2w later

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

Recall the aetiology of ITP

A

Immune destruction of platelets by IgG autoantibodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

How should ITP be investigated?

A

Diagnosis of exclusion - do an FBC and blood smear

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

How should ITP be managed?

A

In 80% of children it is acute, benign and self-limiting: will resolve spontaneously within 6-8w
Only treat if evidence of major bleeding or persistent minor bleeding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

How should major bleeding in ITP be managed?

A

IV Ig + corticosteroids + anti-RhD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

How should life-threatening haemorrhage be treated in ITP?

A

Platelet transfusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

When is ITP considered chronic?

A

after 6 months persistence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

How should chronic ITP be managed?

A

Mycophenalate mofetil
Rituximab
Eltrombopag (thrombopoeitin agonist)
2nd line = splenectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

Recall the symptoms of IDA In children

A

May be asymptomatic
Feeding slowly, tiring quickly, “pica” (eating soil, dirt, etc)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

What iron supplement dose is appropriate for children?

A

Ferrous sulphate 200mg TDS

100
Q

Upon which chromosome is the beta globin gene found?

A

Chromosome 11

101
Q

When does HbA synthesis become predominant?

A

6m

102
Q

What is the defect in sickle cell anaemia?

A

Defective beta globin chain
Glutamine to valine on codon 6 on C11

103
Q

What is the inheritance pattern of SCA?

A

Autosomal recessive

104
Q

Recall the genotype that encodes for sickle cell trait?

A

BB^s

105
Q

Recall the genotype that encodes for sickle cell anaemia?

A

B^s B^s

106
Q

Recall the genotype that encodes for HbC disease

A

B^c B^s

107
Q

What is beta thalassaemia?

A

Redcuced beta globin synthesis

108
Q

What is the inheritance pattern of beta thalassaemia?

A

Autosomal recessive

109
Q

What are the 3 phenotypes of alpha thalassaemia and genotypes?

A

4 alpha globin deletions = alpha thalassaemia major/ Hb Barts

3 alpha globin deletions = HbH disease

1/2 alpha thalassaemia deletions = alpha thalassaemia trait

110
Q

What is the prognosis of each of the phenotypes of alpha thalassaemia?

A

Hb Barts = fatal in utero via hydrops fetalis

HbH disease = mild/ mod anaemia

Trait = asymptomatic with mild/ no anaemia

111
Q

What is the gold standard diagnostic method for both SCD/ thalassaemia?

A

Electrophoresis

112
Q

What is the most common early sign of SCD?

A

Hand and foot syndrome (swollen hands and feet and dactylitis)

113
Q

What 2 infections are people with SCD particularly at risk of getting?

A

Pneumococcus and parvovirus

114
Q

What symptom of SCD only presents in children (not adults)?

A

Splenomegaly

115
Q

What screening test should be done in suspected SCD?

A

Solubility test

116
Q

What is the gold standard diagnostic method for SCD?

A

Haemoglobin electrophoresis

117
Q

What would a blood smear show in SCD?

A

Sickle cells, Howell-Jolly bodies, nucleated RBCs

118
Q

What prophylactic medications should be given to people with SCD?

A

OD oral penicillin
OD oral folic acid

119
Q

Why is folic acid given in SCD?

A

Hyperplastic erythropoiesis, growth spurts, increased turnover

120
Q

How should acute crises be treated in sickle cell disease?

A

Analgesia
Hydration
Abx
O2
Exchange transfusion

121
Q

How should the chronic problems of SCD be treated?

A

Hydroxycarbamide
HSCT in severe cases

122
Q

Recall the 3 key signs and symptoms of beta thalassaemia major

A

Extramedullary haematopoiesis
Anaemia
Iron overload

123
Q

Recall 3 signs of extramedulllary haematopoiesis

A

Bone expansion
Hepatosplenomegaly
Frontal bossing

124
Q

Recall the signs of beta thalassaemia trait

A

Microcytosis - otherwise asymptomatic

125
Q

What would a blood smear show in thalassaemia?

A

Microcytic red cells
Tear drop cellls
Microspherocytes
Target cells
Shistocytes
Nucleated RBCs

126
Q

How should beta thalassaemia major be managed?

A

Blood transfusion +/-Iron chelation (desferrioxamine/ deferiprone)

127
Q

Recall 4 signs and symptoms of HDN in the newborn?

A

Yellow amniotic fluid
Pallor
Jaundice 24-36 hours after birth
Hydrops fetalis (hepatosplenocardiomegaly)

128
Q

How can HDN be investigated?

A

Coombe’s test pos
Haemolysis –> raised uBR and reticulocytes
Amniocentesis/ USS (shows organomegaly)

129
Q

How can HDN be prevented?

A

Prophylaxis within 72 hours of a sensitising event
Kleiheur test can determine need for more
If before 20w: 250IU
If after 20w: 500IU
Routine antenatal anti-D prophylaxis is done if necessary, following antibody screen at 28 weeks
Prophylaxis = 2 doses of anti-D

130
Q

How can HDN be treated?

A

Phototherapy (uBR) IV Ig (if bilirubin is rising fast)If severe or in utero –> transfusion into umbilical vein

131
Q

Which 6 inborn errors of metabolism are tested for at the newborn blood test screen?

A

PKU
MCADD
Glutaric Aciduria T1
Isovaleric acidaemia
Homocysteinuria
MSUD

132
Q

What is the inheritance pattern of those inborn errors of metabolism?

A

Autosomal recessive

133
Q

What is the deficiency in PKU?

A

Phenylalanine hydroxylase

134
Q

Recall the typical appearance of a child with PKU

A

Blonde hair, blue eyes, eczema, microcephaly

135
Q

What are the symptoms of PKU (unmanaged)?

A

Learning difficulties and seizures

136
Q

How is PKU managed?

A

Low phenylalanine diet

137
Q

Recall the signs and symptoms of MCADD

A

Encephalopathy within 1w + SIDS
Hypoglycaemia and hypoketonuria

138
Q

What investigation is done to diagnose MCADD?

A

Urinalysis: shows absent ketones and medium-chain dicarboxylic aciduria

139
Q

What is G6PD’s role?

A

Rate limiting enzyme in the pentose phosphate shunt

140
Q

What is the inheritance pattern of G6PDD?

A

X - linked

141
Q

What are the main signs and symptoms of G6PDD?

A

Neonatal jaundice
Acute intravascular haemolysis (–> fever, malaise, abdo pain and dark urine)

142
Q

What type of disease is Gaucher’s disease?

A

Lysosomal storage disease

143
Q

What is Gaucher’s disease a deficiency of?

A

Beta-glucosidase

144
Q

Which group of people are particularly at risk of getting Gaucher’s?

A

Ashkenazi Jews

145
Q

What are the 2 forms of Gaucher’s disease, and their symptoms?

A

Acute infantile form: hepatosplenomegaly, neurological degeneration with seizures
Chronic childhood form: hepatosplenomegaly and BM suppression (with anaemia)

146
Q

Which form of Gaucher’s disease is most common?

A

The chronic childhood form

147
Q

What would be seen on BM aspirate in Gaucher’s disease?

A

Gaucher cells

148
Q

How is Gaucher’s disease managed?

A

Splenectomy, bisphosphonates (because of BM suppresion), enzyme replacement, treat anaemia

149
Q

What is the most common form of galactosaemia?

A

Gal-1-PUT deficiency

150
Q

Recall the signs and symptoms of galactosaemia

A

High cBR
Hepatomegaly
Hypoglycaemia
Sepsis (gal-1-phos inhibits the immune response)

151
Q

How does galactosaemia present if not picked up in infancy?

A

BL cataracts

152
Q

How is galactosaemia managed?

A

Avoidance of galactose

153
Q

How many types of glycogen storage disease are there?

A

5

154
Q

What symptoms are specific to McArdle’s GSD?

A

Muscle cramps/ weakness after first few mins of exercise, followed by a second ‘wind’ of energy

155
Q

Recall the symptoms of GSD with the reason behind each one

A

Hypoglycaemia (G6P cannot leave cells)
Lactic acidosis (G6P builds up as lactate)
Neutropaenia (G6P suppresses the immune system)

156
Q

How should glycogen storage disease be managed?

A

Manage intake of CHO carefully to avoid storage

157
Q

Describe the levels of acne

A

Comedones are either open (blackheads) or closed (white heads)
Papules/ pustules
Nodulocystic/ scarring

158
Q

From what age can acne be managed medically?

A

12

159
Q

What skin cleaning advice can you give to adolescents with acne?

A

Don’t over clean - twice per day with gentle soap is okay

160
Q

Why should picking/ squeezing of comedones be avoided?

A

Risk of scarring

161
Q

How long does It take topical medication to start working in acne?

A

Up to 8w

162
Q

How can mild to moderate acne be managed?

A

Topical retinoid +/- benzoyl peroxide OR Topical antibiotic + benzoyl peroxide
Azelaic acid 20%

163
Q

How can moderate acne be treated?

A

Max 3 months of oral antibiotic
Add BPO/ retinoid to Abx OR
COCP + BPO/ retinoid

164
Q

When should a referral to a dermatologist be made in acne vulgaris?

A

Nodulocystic acne/ scarring
Severe form (eg acne conglobata/ acne fulminans)
Severe psychological distress
Diagnostic uncertainty
Failure to respond to medications

165
Q

Where is eczema commonly found?

A

Flexures

166
Q

What 2 differentials should always be considered in suspected eczema?

A

Contact dermatitis (so do patch testing)
Food allergies (blood or skin prick testing)

167
Q

What treatment can be used in all severities of eczema?

A

Emollients

168
Q

What other treatments are available in mild eczema?

A

Mild-potency topical corticosteroids

169
Q

What other treatments are available in moderate eczema?

A

Moderate-potency topical corticosteroids , topical calcineurin inhibitors and bandages

170
Q

What other treatments are available in severe eczema?

A

Potent topical steroids, phototherapy, topical calcineurin inhibitors and bandages

171
Q

How should infected eczema be managed?

A

Flucloxacillin

172
Q

How should eczema herpeticum be managed?

A

Oral aciclovir

173
Q

Recall the steroid ladder

A

Help Every Busy Dermatologist
Hydrocortisone
Eumovate
Betnovate
Dermovate

174
Q

When should an immediate referral be made in eczema?

A

Eczema herpeticum

175
Q

What does eczema herpeticum look very similar to?

A

Impetigo

176
Q

What is the fancy medical name for port-wine stain?

A

Naevus flammeus

177
Q

Where are port wine stains found?

A

In trigeminal nerve distribution

178
Q

What is the cause of port wine stain?

A

Could be all kinds of syndromes with long names
Most often = Sturge Weber syndrome

179
Q

Recall 3 alternative names for naevis simplex

A

Salmon patches/ stalk bites/ angel’s kiss

180
Q

Describe the appearance of naevus simplex

A

Pink/ red patch at birth that goes redder when the infant cries

181
Q

When does infantile haemangioma develop?

A

A few days/ weeks after birth

182
Q

How long do infantile haemangiomas last?

A

6-10 months, then they shrink

183
Q

Where are most infantile haemangiomas found?

A

Head and neck

184
Q

Describe the appearance of the different types of infantile haemangioma

A

Superficial = bright red area of warm skin
Deep = blue lump
Mixed = bright red areas on a blue lump

185
Q

Recall 3 causes of infantile haemangioma

A
  1. Kasabach-Merritt: kaposiform haemangioendothelioma –>thrombocytopaenia –> haemangioma with thrombocytopaenia
  2. PHACES syndrome
  3. LUMBAR syndrome
186
Q

What is PHACES syndrome?

A

Posterior fossa malformations, haemangioma, arterial abnormalities, cardiac abnormalities, eye abnormalities and sternal abnormalities

187
Q

What is LUMBAR syndrome?

A

Lower body/ lumbosacral haemangioma
Urogenital anomalies
Myelopathy
Bony deformities
Anorectal/ arterial anomalies
Renal anomalies

188
Q

When should an MRI be used in investigation of an infantile haemangioma?

A

If deep/ multiple/ near the eye

189
Q

How should infantile haemangiomas be managed?

A

Conservatively - medical photography + review in 3 months

190
Q

If an infantile haemangioma is in a sensitive area, what can be prescribed?

A

Topical timolol

191
Q

What is the prevalence of congenital haemangioma?

A

Very rare

192
Q

What are the 3 types of congenital haemangioma?

A

Rapidly involuting congenital haemangiomas (RICH)
Non-involuting congenital haemangiomas (NICH)
Partially-involuting congenital haemangiomas (PICH)

193
Q

How can rapidly-involuting congenital haemangioma and non-involuting congenital haemangioma be clinicially differentiated?

A

RICH is at maximum size at birth and involutes by 12-18 months
NICH continues to grow as baby does and do not shrink

194
Q

Other than the haemangioma itself, what sign might be present in congenital haemangioma?

A

Transient thrombocytopaenia

195
Q

If a congenital haemangioma needs to be removed, how should it be done?

A

Embolisation

196
Q

What is erythema toxicum?

A

Benign skin condition present in 50% of newborns

197
Q

What is the prevalence of erythema toxicum?

A

50% of newborns

198
Q

What needs to be excluded in suspected erythema toxicum?

A

Congenital infection

199
Q

How does erythema toxicum appear?

A

Maculo-papular-pustular lesions

200
Q

Where does erythema toxicum begin and spread to?

A

Begins on face and spreads to limbs

201
Q

How does Milia appear?

A

White pimples on nose and cheeks

202
Q

What is the cause of milia?

A

Retention of keratin and sebaceous material of the pilosebaceous follicle

203
Q

How should milia be treated?

A

It’s self-limiting

204
Q

What is the pathogen in molluscum contagiosum?

A

Pox virus

205
Q

What age group does molluscum contagiosum affect?

A

2-5 yo

206
Q

How does molluscum contagiosum appear?

A

> 1 small pink skin-coloured/ pearly papules, ulcerated/ umbilicated

207
Q

What are the signs and symptoms of molluscum contagiosum?

A

Painless usually, may occasionally be itchy

208
Q

How long does molluscum contagiosum usually last, and when is it considered chronic?

A

6-9 months
>2 years

209
Q

How is chronic molluscum contagiosum managed?

A

Cryotherapy

210
Q

How does mongolian blue spot appear?

A

Blue/ black maculopapular discolourisation at base of spine and on buttocks

211
Q

In which infants is mongolian blue spot most likely?

A

Afro-caribbean or asian infant

212
Q

How is mongolian blue spot managed?

A

It’s self-limiting

213
Q

What is the most common pathogen in impetigo?

A

Spathylococcus aureus

214
Q

How does impetigo appear?

A

Golden-yellow, crusted appearance

215
Q

Recall the 3 grades of impetigo

A

Localised and non-bullous
Widespread, non-bullous
Bullous, systemically unwell

216
Q

How do you treat each different grade of impetigo?

A

Localised non-bullous: topical hydrogen peroxide

Widespread non-bullous: oral flucloxacillin OR topical fusidic acid

Bullous, systemically unwell: oral flucloxacillin

217
Q

For how long should children with impetigo be excluded from school?

A

Until lesions crusted over/ 48 hours after Abx started

218
Q

What is nappy rash most commonly a form of?

A

Contact dermatitis

219
Q

Recall the signs and symptoms of each different type of nappy rash

A

Irritant: well-demarcated variety of erythema, oedema, dryness and scaling

Candida albicans: erythematous papules and plaques with small satellite spots or superficial pustules

Seborrhoeic: cradle cap and BL salmon pink patches, desquamating flakes

220
Q

How can mild erythema be managed in nappy rash?

A

Use of a barrier preparation

221
Q

How can moderate erythema be managed in nappy rash?

A

Hydrocortisone 1% cream

222
Q

How can candidal infection be managed in nappy rash?

A

DO NOT USE BARRIER - topical imidazole cream

223
Q

How should bacterial infection be managed in nappy rash?

A

Oral flucloxacillin

224
Q

What are the signs and symptoms of seborrhoeic dermatitis

A

Dandruff - erythematous, yellow, crusty, adherent layer (cradle cap)

225
Q

What pathogen is seborrhoeic dermatitis associated with?

A

Malassezia yeasts

226
Q

After how long should seborrhoeic dermatitis spontaneously resolve?

A

8 months

227
Q

Recall the 1st line treatment for seborrhoeic dermatitis

A

Regular washing with baby shampoo and gentle brusing to remove scales
Can soak crusts overnight in vaseline/ olive oil

228
Q

When should 2nd line treatment be considered in seborrhoeic dermatitis, and what is it?

A

If scalp is affected
Topical imidazole cream BD/ TDS

229
Q

What is the 3rd line treatment for severe seborrhoeic dermatitis?

A

Mild topical steroids (1% hydrocortisone)

230
Q

What is the type of pathogen involved in tinea?

A

Dermatophyte fungi - Trichophytum rubrum

231
Q

What drug is used to treat scabies?

A

Permethrin

232
Q

How does tinea appear?

A

Ringed appearance +/- kerion

233
Q

How is tinea capitis treated?

A

Oral antifungal - terbinafine

234
Q

How are non-capitis types of tinea treated (mild/ mod/ severe)?

A

Mild: topical terbinafine
Mod: hydrocortisone 1%
Sev: oral terbinafine

235
Q

What advice should you give in cases of tinea?

A

Very contagious so take steps to avoid spread - wear loose-fitting cotton clothing, do not share towels, dry thoroughly after washing, avoid scratching - no need for school exclusion

236
Q

What is the most common cause of neck lumps?

A

Lymphadenitis

237
Q

Recall 5 red flags in neck lump to screen for?

A

Sepsis
Poor feeding
Rapid progression
Stridor
Change in voice

238
Q

What is the most common midline congenital mass?

A

Thyroglossal cyst

239
Q

What is the cause of thyroglossal cyst?

A

Failure of thyroglossal duct to involute

240
Q

What is the most common lateral congenital neck mass?

A

Brachial cleft abnormality

241
Q

What is the cause of brachial cleft abnormality?

A

Failure of pharyngeal clefts to involute

242
Q

How long does lymphadenitis last?

A

6 weeks - self limiting

243
Q

How should thyroglossal cyst be managed?

A

Asymptomatic: conservatively
Symptomatic: Sistrunk’s procedure (surgical removal)

244
Q

How should brachial cleft abnormality be treated?

A

Asymptomatic: conservatively
Symptomatic: Sistrunk’s procedure (surgical removal)

245
Q

Recall the typical distribution of atopic dermatitis in infants, older children and young adults

A

Infants: face and trunk
Older children: extensor surfaces
Young adults: localises to flexures