Derm- genetic conditions Flashcards
what is tuberous sclerosis
autosomal dominant condition of variable severity, characterised by a range of benign tumours in various organ systems of the body
what are Angiofibromas
dome shaped, firm papules in a butterfly distribution across the face
earliest sign of tuberose sclerosis
ash-leaf macules
what are ash-leaf macules
oval patches of hypo pigmented skin that fluorescence under a woods light
most common neurological manifestation of tuberose sclerosis
epilepsy
what are ungal fibromas
smooth, fleshy tumours that grow from the nail folds either around or under the nail
what are Café au lait patches
hyperpigmented macules on the bod
teeth sign of tuberose sclerosis
enamel pitting
tuberose sclerosis causes mutations in one of which two genes
TSC1 and TSC2
tuberose sclerosis causes mutations in TSC1 gene which codes for what?
hamartin
tuberose sclerosis causes mutations in TSC2 gene which codes for what?
tuberin
which chromosome is tuberin located on?
chromosome 9
which chromosome is Hamartin located on?
chromosome 16
what is epidermolysis bullosa
group of inherited disorders with blister formation in response to mechanical trauma
how many genes are involved in epidermolysis bullosa
> 10 genes involved in skin structure and adhesion
three main types of epidermolysis bullosa
simplex
junctional
dystrophic
how many cafe au lait macule suggest genetic disease
> 5
what is neurofibromatosis type 1
genetic condition that causes tumours along the nervous system
neurofibromatosis type 1 is causes by a mutation in which gene
NF1 gene
> /= 2 of what is diagnostic of neurofibromatosis 1
> /= 6 cafe-au-lait macules
neurofibromas of any type
axillary/inguinal freckling
optic glioma
/= 2 lisch nodules
Distinctive osseous lesion
First degree relative with NF1
