Paediatric Derm Flashcards

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1
Q

what are salmon patches

A

vascular birthmark seen in up to half of newborns two types: angel kisses- present on face stork marks - neck

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2
Q

what is a port wine stain

A

capillary malformation seen at birth as a red/purple macule/patch

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3
Q

what is sturge weber syndrome

A

port wine stain on upper face (trigeminal 1 region) brain vascular malformation on same side

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4
Q

complications of sturge weber syndrome

A

seizures glaucoma intellectual impairment hemi-paresis

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5
Q

what is klippel-trenauney syndrome

A

portwine stain + progressive limb overgrowth

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6
Q

when do haemangiomas tend to appear? what do they look like?

A

90% within the first month - most common on head and neck - most will resolve erythematous, raised, multi lobed tumour

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7
Q

complications of haemangiomas

A

bleeding ulceration infection pain

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8
Q

complications of peri-ocular haemangiomas

A

visual obstruction global compression retro bulbar expansion

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9
Q

treatment of serious haemangiomas

A

topical or intra-lesional corticosteroids systemic steroids propanolol

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10
Q

what does this picture show

A

mongolion blue spot

  • common in black/asian skins
  • fade over several years
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11
Q

how big are small, medium and large congenital melanocytic naevi

A

small = up to 5cm

medium = between 5-20cm

large = over 20cm

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12
Q

what are giant congenital naevi associated with

A

multiple small naevi

spina bifida

high malignancy risk

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13
Q

inheritance of neurofibromatosis

A

autosomal dominant

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14
Q

what chromosome is affected in

NF1

NF2

A

NF1 = chromosome 17

NF2 = chromosome 22

(NF1 is more common)

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15
Q

features of NF1

A

cafe au lait spots

axillary freckling

lisch nodules

neurofibromas

sphenoid dysplasia

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16
Q

2 cafe au lait macules under age of 2 suggests what?

A

neuroectodermal disease

17
Q

what are lisch nodules

A

iris hamartomas

18
Q

features of NF2

A

bilateral vestibular schwannomas

19
Q

ash leaf macule (hypopigmented patch) is a sign of?

A

tuberous sclerosis

20
Q
A
21
Q

how might tuberous sclerosis present in infants

A

seizures

  • cortical tuber formation
  • calcification of falx cerebri
22
Q

inheritence of tuberous sclerosis

A

autosomal dominant

23
Q

featutres of tuberous sclerosis

A

ash leaf macules

seizures

facial angiofibromas

peri-ungal fibromas

shagreen patches

enamel pitting

hamartomas/angiomyolipomas - heart, lung, kidney

24
Q

types of epidermolysis bullosa + their causitive mutations

A

EB simplex - mutations in genes encoding keratin

Junctional EB - mutations in genes encoding hemidesmosome proteins

Dystrophic EB - mutations in genes encoding collagen