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14.03.05 Revision notes

Osler-Weber-Rendu syndrome

A 30-year-old man is investigated for recurrent nose bleeds and iron deficiency anaemia. You notice a number of erythematous lesions on his skin:

  • AKA hereditary haemorrhagic telangiectasia (HHT)
  • Vascular dysplasia leading to telangiectasia
  • AVMs of skin, mucosa, and viscera
  • Epistaxis and gastrointestinal bleeding

  • A low-grade temperature is an under appreciated sign of pulmonary embolism
  • Howell–Jolly bodies 
    • Basophilic nuclear remnants in circulating erythrocytes
    • Usually signifies a damaged spleen
  • Geographic tongue
    • Benign, chronic condition of unknown cause
    • Present in around 1-3% of the population and is more common in females
    • Erythematous areas with a white-grey border (the irregular, smooth red areas are said to look like the outline of a map)
    • Some patients report burning after eating certain food
  • Keratoderma blenorrhagica 
    • Waxy yellow/brown papules on palms and soles
    • Feature of reactive arthritis
  • Burning thigh pain - ? meralgia paraesthetica - lateral cutaneous nerve of thigh compression
  • Vitiligo is more common in patients with known autoimmune conditions such as thyrotoxicosis
  • Milrinone (PDE3 inhibitor) => + Contractility / Vasodilation (reduced afterload)
  • Takyasu's arteritis 
    • Inflammatory, obliterative arteritis affecting aorta and branches
    • Females> Males
    • Symptoms may include upper limb claudication
    • Clinical findings include diminished or absent pulses
    • ESR often affected during the acute phase
  • Buergers disease 
    • Segmental thrombotic occlusions of the small and medium sized lower limb vessels
    • Commonest in young male smokers
    • Proximal pulses usually present, but pedal pulses are lost
    • An acuter hypercellular occlusive thrombus is often present
    • Tortuous corkscrew shaped collateral vessels may be seen on angiography
  • Fanconi syndrome is due to impaired function of proximal renal tubule
    • Abnormal amounts of carbohydrates and amino acids in urine
    • Excessive urination
    • Low serum potassium and phosphate
  • Normal range for intraocular pressure: 10 - 21 mmHg
  • Magnesium is required for both PTH secretion and its action on target tissues
  • Drugs exacerbating psoriasis: Beta blockers, lithium, antimalarials (chloroquine and hydroxychloroquine), NSAIDs, ACE inhibitors
  • Stevens-Johnson syndrome severe form of erythema multiforme associated with mucosal involvement and systemic symptoms
  • Pityriasis versicolor => Topical antifungal e.g. terbinafine or selenium sulphide
  • Patients with aortic stenosis are at risk of profound hypotension with ACE inhibitors
  • Oral erythromycin for pertussis

Bacterial vaginosis 
  • Overgrowth of predominately anaerobic organisms such as Gardnerella vaginalis
  • Leads to a consequent fall in lactic acid producing aerobic lactobacilli resulting in a raised vaginal pH
  • Seen almost exclusively in sexually active women
  • Features
    • vaginal discharge: 'fishy', offensive
    • asymptomatic in 50%
  • Amsel's criteria for diagnosis of BV - 3 of the following 4 points should be present
    • thin, white homogenous discharge
    • clue cells on microscopy
    • vaginal pH > 4.5
    • positive whiff test (addition of potassium hydroxide results in fishy odour)
  • Management
    • oral metronidazole for 5-7 days
    • 70-80% initial cure rate
    • relapse rate > 50% within 3 months
    • topical metronidazole or topical clindamycin as alternatives

Renal tubular acidosis

TypeType 1Type 2Type 4
LocationDistal tubulesProximal tubulesAdrenal
Acidosis?Yes (severe)YesMild when present
PathophysiologyFailure of H+ secretion
(apical H+/K+ antiporter)
(α intercalated cells)
Failed HCO3 reabsorption
(proximal tubular cells)
Usually part of Fanconi syndrome
Hypoaldosteronism / 

Childhood infections

ChickenpoxFever initially
Itchy, rash starting on head/trunk before spreading. Initially macular then papular then vesicular
Systemic upset is usually mild
MeaslesProdrome: irritable, conjunctivitis, fever
Koplik spots: white spots ('grain of salt') on buccal mucosa
Rash: starts behind ears then to whole body, discrete maculopapular rash becoming blotchy & confluent
MumpsFever, malaise, muscular pain
Parotitis ('earache', 'pain on eating'): unilateral initially then becomes bilateral in 70%
RubellaRash: pink maculopapular, initially on face before spreading to whole body, usually fades by the 3-5 day
Lymphadenopathy: suboccipital and postauricular
Erythema infectiosumAlso known as fifth disease or 'slapped-cheek syndrome'
Caused by parvovirus B19
Lethargy, fever, headache
'Slapped-cheek' rash spreading to proximal arms and extensor surfaces
Scarlet feverReaction to erythrogenic toxins produced by Group A haemolytic streptococci
Fever, malaise, tonsillitis
'Strawberry' tongue
Rash - fine punctate erythema sparing face
Hand, foot and mouth diseaseCaused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet