Paediatric Derm Flashcards
what are salmon patches
vascular birthmark seen in up to half of newborns two types: angel kisses- present on face stork marks - neck
what is a port wine stain
capillary malformation seen at birth as a red/purple macule/patch
what is sturge weber syndrome
port wine stain on upper face (trigeminal 1 region) brain vascular malformation on same side
complications of sturge weber syndrome
seizures glaucoma intellectual impairment hemi-paresis
what is klippel-trenauney syndrome
portwine stain + progressive limb overgrowth
when do haemangiomas tend to appear? what do they look like?
90% within the first month - most common on head and neck - most will resolve erythematous, raised, multi lobed tumour
complications of haemangiomas
bleeding ulceration infection pain
complications of peri-ocular haemangiomas
visual obstruction global compression retro bulbar expansion
treatment of serious haemangiomas
topical or intra-lesional corticosteroids systemic steroids propanolol
what does this picture show
mongolion blue spot
- common in black/asian skins
- fade over several years
how big are small, medium and large congenital melanocytic naevi
small = up to 5cm
medium = between 5-20cm
large = over 20cm
what are giant congenital naevi associated with
multiple small naevi
spina bifida
high malignancy risk
inheritance of neurofibromatosis
autosomal dominant
what chromosome is affected in
NF1
NF2
NF1 = chromosome 17
NF2 = chromosome 22
(NF1 is more common)
features of NF1
cafe au lait spots
axillary freckling
lisch nodules
neurofibromas
sphenoid dysplasia
2 cafe au lait macules under age of 2 suggests what?
neuroectodermal disease
what are lisch nodules
iris hamartomas
features of NF2
bilateral vestibular schwannomas
ash leaf macule (hypopigmented patch) is a sign of?
tuberous sclerosis
how might tuberous sclerosis present in infants
seizures
- cortical tuber formation
- calcification of falx cerebri
inheritence of tuberous sclerosis
autosomal dominant
featutres of tuberous sclerosis
ash leaf macules
seizures
facial angiofibromas
peri-ungal fibromas
shagreen patches
enamel pitting
hamartomas/angiomyolipomas - heart, lung, kidney
types of epidermolysis bullosa + their causitive mutations
EB simplex - mutations in genes encoding keratin
Junctional EB - mutations in genes encoding hemidesmosome proteins
Dystrophic EB - mutations in genes encoding collagen
