Genetics and Skin Disease Flashcards
what is a genodermatosis
inherited skin condition
tuberous sclerosis
benign tumours grow in brain and other organs
TS - brain CF
cortical tubers/calcification of falx cerebri
may present as infantile seizures, intellectual disability
TS inheritance
Au D
TS CF nails
periungual fibromata and longitudinal ridging
TC CF cutaenous
ash leaf macule - depigmented macule
how can ash leaf macules be seen better
under woods lamp
TS CF
bone cyst
facial angiofibroma
shagreen patches
TS CF teeth
enamel pitting
what do shagreen patches occur in
tuberous sclerosis
what happens to sperm the older the father is
the more mutations they acquire
TS - mutation in which genes
TSC1 or TSC2 (heterogeneity and exhibit mendelian inheritance)
what type of inheritance does TS exhibit
mendelian
what chromosome does TSC1 code to
9q34 - tuberin
what chromosome does TSC2 code to
16p13.3 (hamartin)
what is the penetrance like in TS
variable but high - some people dont show features of the disease
what genetic deficiency causes seizures through the same pathway as TS and what can t be treated with
STRADA deficiency treated with mTOR inhibitors
Epidermolysis Bullosa
group of different skin fragility conditions, with varying severity
Epidermolysis Bullosa does blistering at birth determine prognosis
no
Epidermolysis Bullosa how is it classified
by where the skin splits - junctional, simplex and dystrophic
simplex Epidermolysis Bullosa
abnormality in keratinocyte integrity split occurs in epidermis
junctional Epidermolysis Bullosa
strong blisters that heal wtih a scar split occurs in DEJ
dystrophic Epidermolysis Bullosa
induces scarring split occurs in dermis
Epidermolysis Bullosa acquista
a rare condition that is not inherited and usually presents in adult life
tense blisters appear at sites of trauma
define haploinsufficiency
only one working copy of the gene and so reduced protein production leading to abnormal or diseased state
define dominant negative
expression of abnormal protein interferes with normal protein
define gain of function
mutant protein gains a new function, affecting cell processes
define complete loss of protein
Au R 2 faulty copies of the gene product no protein
Neurofibromatosis type I CF
cafe au lait macules
neurofibromas
axillary or inguinal freckling
optic glioma
>2 lisch nodules
what disease is this seen in
neurofibromatosis type 1
(axillary or inguinal freckling)
Neurofibromatosis type I - genetics
caused by mutation in Ras GAP - targeted therapy for MEK inhibitors
neurofibromas - neurofibromatosis type 1
lisch nodule - neurofibromata
