Genetic, autoimmune + inflamm Flashcards
what inheritance is NFT
dominant
NFT type 1 symptoms
cafe-au laits, frexiles, peripheral fibromas, phaechromoctyoma
NFT type 2 symptoms
bilateral vestibular schwannoma, intracranial tumours
inheritance tuberous sclerosis
dominant
cutaneous tuberous sclerosis symtpoms
ash-leaf spots under UV // shagreen patches on lumbar spine // angiofibroma on nose // subungal nail fibromata // cafe-au lait spots
neuro + systemic symptoms tuberous slcerosis
seizures, developmental delay, retinal tumour, rhadbomyoma of heart
inheritance hereditary haemorrhagic telangiectasia
dominant
diagnostic criteria hereditary haemorrhagic telangiectasia
2 is likely, 3 is definite // epistaxis // telangiectasias // visceral legions // 1st degree FH
what is Epidermolysis bullosa (EB)
skin fragility
what deficiency in Epidermolysis bullosa (EB)
collagen VII
what type of condition is bullous pemphigoid + what Ig is involved
autoimmune: IgG against hemidesmosome proteins
where do blisters in bullous pephigoid form
between dermis + epidermis (Deep)
symptoms bullous pemphigoid
elderly // tense, itchy blisters on flexures // no mucosal involvement eg mouth spared
skin biopsy bullous pemphigoid
immunoflourence –> IgG and C3 at DEJ // no acantholysis (fluid between epithelial cells)
mx bullous pemphigoid
refer –> oral steroids +/- topical steroids - +/- tetracycline +/- immunosuppressant
antibodies in pemphigus vulgaris
autoimmune to desomglein 3
symptoms pemphigus vulgaris
mucosal ulceration esp oral // superficual skin blisters: easy to rupture // painful not itchy // Nikolsy+ - spread of bullae when horizontal spread
biopsy pemphigus vulgaris
IgG + acanthylosis
mx pemphigus vulgaris
1 = steroids, 2 = immunosuprresants eg cyclophosphamide
what gene + condition is assoc with dermatitis herpetiformis
coeliac - HLA DQ2
symptoms dermatitis herpetiformis
itchy vesicles on extensor surfaces eg elbow, knees, buttocks
biopsy + Ig dermatitis herpetiformis
immunoflouresence: IgA in DERMIS
mx dermatitis herpetiformis
gluten free diet + dapsone
what type of condition is vitiligo
autoimmune
assoc conditions vitiligo
T1DM, addisons, thyroid disease, pernicious anaemia, alopecia areata
symptoms vitiligo
peripheries»_space; koebner phenmenon
mx vitiligo
suncream // steroid if early enough // tacrolimis and phototherapy
what is hiradentis suppurativa
inflamm disorder of apocrine gland –> nodules, pustules, red skin, rope-like scars in skin folds (groin, armpit, arse crack)
RF hiradentis suppurativa
young female, FH, smoking, obesity, PCOS, stretching of skin
most common site hiradentis suppurativa
axilla
complications hiradentis suppurativa
lympahdema, lymph obstruction (scars, sinus tracts)
what is pyoderma ganrenosum
inflamm neutrophillic infilatration –> very painful, angry ulcers
common site pyoderma ganrenosum
lower legs
causes pyoderma ganrenosum
idiopathic 50% // IBD, RA, SLE, haem, GPA, primary biliarry cirrhosis
symptoms pyoderma ganrenosum
lower limb // sudden onset as small pustule –> ulcer, purple, necroitc, fever
mx pyoderma ganrenosum
1 = oral steroids // 2 = immunosuprresion eg ciclosporin, infliximab
what is lichen sclerosus
inflamm of genetalia –> atrophy of epidermis + plaque formation
symptoms lichen sclerosis
elderly women - white patches, itchy, painful sex or peeing
risk of lichen slcerosus
vulvar cancer
mx lichen sclerosus
topicl steroids + lube
what type of disease is lichen planus
thought to be immune
symptoms lichen planus
itchy, papular rash // whie lacy line on surfcae (wickham stria) // koebner phenomenon // nail thinning // common on palms, soles, genitalia, flexors, mouth
causes of lichenoid drug eruptions
gold, quinine, thiazide
mx lichenoid erruption
topical steroids // benzydamine mouth wash if oral // if extensive oral steroids
what is Porphyria cutanea tarda (PCT)
defect in uroporphyrinogen decarboxylase
what causes (PCT)
inherited or liver damage eg alcohol, hep C, haemochromatosis, oestrogen
symptoms PCT
photosensitive rash + blisters on hands and face // hypertrichosis // hyperpigmenation
invx PCT
urine: elevated urophorphyrinogen // wood lamp: urine pink fluorescence // raised iron ferritin
mx PCT
chloroquine (anti-malarial) + venesection (if ferritin >600)
what deficiency in erythropoetic protoporphyria
ferrochelatase
symptoms erythropoetic protoporphyria
childhood UV –> blistering, swelling, itchy, red
inheritance + defect acute intermittent porphoryia
dominant - PBG deaminase
who gets acute intermittent porphoryia
females 20-40
symptoms acute intermittent porphoryia
abdo pain // motor neuropathy // depression // hypertension
invx acute intermittent porphoryia
urine turns red on standing // raised urinary PBG // assay red cells PBG deaminase // raised serum PBG
mx PBG deaminase
1 = IV haematin or haem arginate // 2 = IV glucose
