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34 Cards in this Set
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Marfans Syndrome |
clinical features - arachnodactyly - pectus deformity - high arched palate - scoliosis/kyphosis complications - aortic disease - aortic root disease leading to aneurysmal dilatation/aortic regurgitation/dissection - cardiac disease - mitral valve prolapse - spontaneous pneumothora due to lung bullae |
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Turner syndrome |
Occurs in women characteristics: - short stature - "shield" chest with widely spaced nipples - short and webbed neck complications - hearing loss - hypothyroidism - liver function abnormalities - elevated liver enzymes |
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Acromegaly |
Direct effects of pituitary tumour - headache/vision loss - pituitary function - decreased secretion of other hormones (menstrual dysfunction, vaginal atrophy, erectile dysfunction, loss of libido, decreased facial hair growth, hyper prolactinaemia) clinical effects: - acral and soft tissue overgrowth and skin thickening - enlarged jaw and enlarged, swollen hands and feet - coarse facial features - deepening of the voice - CV effects - HTN, LVH, cardiomyopathy - thyroid enlargement - sleep apnoea - predisposition to colonic neoplasia and diverticula |
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Peutz-Jeghers syndrome |
- freckle-like spots around the mouth and on the buccal mucosa - associated with hamartomas of the small bowel |
GI associations |
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Acanthosis nigricans |
- brown to black velvety elevations - found in the axilla and nape of the neck - associated with DM, acromegaly, GI carcinoma, lymphoma and other endocrinopathies |
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Hereditary haemorrhagic telangiectasia |
- multiple small telangiectasias, usuall around the mouth and tongue but can be anywhere - associated GI bleeds due to GI telangiectasias |
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Porphyria cutanea tarda |
- multiple fragile vesicles found in sun exposed areas - result in scarring - dark urine found - associated liver disease, alcoholism and Hep C |
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Systemic sclerosis |
- tense tethering of the skin - associated with GORD and GI motility disorders |
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Muehrcke's nails |
paired white transverse lines occuring in hypoalbuminaemia (nephrotic syndrome) |
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Beau's lines |
non-pigmented indented transverse bands - occur in any catabolic state |
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Band keratopathy |
calcium deposition beneath the corneal epithelium in line with the interpalpebral fissure - due to secondary or tertiary hyperparathyroidism |
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Alports syndrome |
hereditary nephritis often with sensorineural hearing loss and eye disease of the retina or cornea |
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Livedo reticularis |
red-blue reticular pattern on the skin - from vasculitis or athero-embolic disease |
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Koilonychia |
dry, brittle, ridged, spoon-shaped nails - can due to iron deficiency anaemia, mechanism unknown - rarely seen today |
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Felty's syndrome |
rheumatoid arthritis associated with splenomegaly and neutropaenia - mechanism of the neutropaenia is unknown - also associated with throbmbupcytopaenia, haemolytic anaemia, skin pigmentation and leg ulceration |
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Hess test |
test of thrombocytopaenia or capillary fragility - BP cuff placed voer the upper arm - inflated to a point 10mmHg above the diastolic blood pressure - wait 5 mins - deflate cuff - wait another 5 mins - inspect the arm lookign for petechiae - usually most prominent in the cubital fossa - normal is fewer than 5 petichiae |
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Sjogren's syndrome |
- mucous-secreting glands become infiltrated with lumphocytes and plasma cells, which cause atrophy and fibrosis - the dry eyes can result in conjunctivitis, keratitis and corneal ulcers - dry mouth - chest infections may occur as a complication - kidney complications include renal tubular acidosis or nephrogenic diabetes insipidus - atrophic vaginitis may occur in the genital tract - pseudolymphoma may occur |
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koilonychia |
dry, brittle, ridged, spoon-shaped nails - can be due to iron deficiency anaemia though mechanism is unknown |
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becet's syndrome |
vasculitide affecting medium to small arteries and veins clinical features: - oral and genital ulcers - eyes - uveitis - asymmetrical large joint polyarthroathy - thrombophlepbitis - rash - CNS - cranial or spinal cord lesions |
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Takayusu's arteritis |
cause - unknown affects aorta and its branches clinical features: - HTN - loss of upper limb pulses |
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hypersensitivity vasculitis |
causes: - connective titssue diseases - RA, SLE - infection - e.g. Hep B - drugs - penicillin, phenothiazines, phenylbutazone, propylthiouracil - haematological diseases - idiopathic involves capillaries and venules clinical features: - urticaria - palpable purpura - HSP - digital infarcts |
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allergic granulomatosis |
cause: unknown affects small arteries and veins clinical features - signs of asthma, eosinophilia |
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Wegener's granulomatosis |
cause: unknown affects arteries, capillaries and venules clnical features - URT sinusitis, saddle nose deformity - lungs - pneumonitis - renal - HTN, signs of renal failure, haematuria - eyes - conjunctivitis, uveitis - skin - similar to hypersensitivity vasculitis |
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Polyarteritis Nodosa |
cause: unknown but associated with hep B affects medium and small arteries clinical features: - digital gangrene, ulceration - renal: HTN , signs of renal failure, haematuria - GIT: haematemesis, malaena - lung: signs of pneumonitis, effusion - CNS: mononeuritis multiplex, retinal vasculitis - skin: similar to hypersensitivity vasculitis |
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onycholysis |
separation of the nail from its bed - said to occur particularly on the ring finger - can occur on all fingernails - due to sympathetic overactivity |
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thyroid acropathy |
another term for clubbing |
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myxoedema |
a more severe form of hypothyroidism - hydrophilic mucopolysaccharides accumulate in teh ground substance of tissues including the skin - results in excessive interstitial fluid causing skin thickening and a doughy induration |
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"hung-up" reflex |
tested at the biceps and at the ankles when the tendon is struck contraction occurs normally but relaxation is delayed |
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Trousseau's sign |
Test for hypocalcaemia - blood pressure cuff placed on the arm and inflated to above the patient's systolic pressure - observe for 2 minutes - positive if thumb becomes adducted and fingers extended - termed the main d'accoucheur (looks like the fingers of an obstetrician about to remove the placenta manually) |
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Chvostek's sign |
- sign of hypocalcaemia - tap gently over the facial cranial nerve under the ear - if the nerve is hyperexcitable a brisk muscular twitch occurs on the same side of the face |
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Kleinfelter's syndrome |
47XXY - neonates have micropenis (<1.9cm) - behavioural abnormalities, language delay, learning disabilities in prepubescence - infertility - small, firm testes |
clinical features |
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rubeosis iridis |
new vessles on the anterior surface of the iris secondary to ischaemia (often due to diabetes) |
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Argyll Robertson pupils |
rare complication of diabetes small, irregular and unequal pupils react briskly to accommodation but not to light |
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Paget's disease |
excessive absorption of bone compensatory disorganised deposition of new bone possibly of viral origin |
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