Station 5

Top ten:

1. Rheumatoid arthritis
2. Systemic sclerosis
3. Hemianopia
4. Acromegaly
5. Ankylosing spondylitis
6. HIV related problems
7. Diabetic retinopathy
8. Neck lump
9. Retinitis pigmentosa
10. Thyroid eye disease

Endocrine

1. Acromegaly
2. Goitre
3. Hyperthyroidism
4. Hypothyroidism
5. Thyroid eye disease
6. Cushings syndrome
7. Addisons disease
8. Polycystic ovarian syndrome
9. Pseudohypoparathyroidism

Eyes

1. Hemianopia
2. Diabetic retinopathy
3. Retinitis pigmentosa
4. Papilloedema
5. Choroiditis
6. Hypertensive retinopathy
7. Glaucoma
8. Retinal artery occlusion
9. Optic atrophy
10. Retinal vein occlusion
11. Horners syndrome

Locomotor

1. Rheumatoid hands
2. Systemic sclerosis
 3. Ankylosing spondylitis
4. Pagets disease
5. Psoriatic arthropathy
6. Marfans syndrome
7. Systemic lupus erythematosus
8. Osteoarthrosis
9. Swollen knee
10. Gout

Skin

1. HIV-related problems
2. Psoriasis
3. Hereditary haemorrhagic telangectasia
4. Systemic sclerosis
5. Neurofibromatosis
6. Peutz-Jeghers syndrome
7. Lichen planus
8. Tuberous sclerosis
9. Pseudoxanthoma elasticum
10. Erythema nodosum
11. Pyoderma gangrenosum
12. Raynauds phenomenon
13. Sturge-Weber syndrome
14. Vitiligo
15. Acanthosis nigricans
16. Keratoderma blenorrhagica
17. Henoch-Schonlein purpura
18. Alopecia areata
19. Erythema multiforme
20. Pemphigus
 ENDOCRINE

Thyroid stations:

Hx presentation:
Neck lump
Eye problems diplopia
Heat/Cold intolerance
Tremor
Weight change
Diarrhoea, constipation
Palpitations
Oligomenorrhoea

Examination
Hands acropachy, tremor, sweaty
Pulse tachy/ AF
Eyes position, chemosis, ophthalmoplegia
Neck exam incl swallowing, LNs, retrosternal goitre and bruit
Reflexes
Proximal myopathy
Pretibial myxoedema

What is Graves disease?

Autoimmune Dx with TSHR-Abs which hyperstimulate the thyroid and also bind to soft
tissues in the orbit, leading to a hyperthyroid state and thyroid eye disease. It is the most
common cause of hyperthyroidism. Is it more common in women (5x). The antibodies
can also direct. It presents with symptoms of hyperthyroidism such as weight loss,
anxiety, tremor, heat intolerance or tachycardia, neck swelling from a diffusely enlarged
mildly tender goitre, and Graves eye disease, with proptosis, exophthalmos, chemosis
and complex ophthalmoplegia.

What is the treatment for Graves disease?

Symptoms can be initially controlled with beta-blockade. I would consider an urgent
ophthalmology opinion if there was any visual loss, ophthalmoplegia or inability to close
the eyes, and eye lubricants, steroids, tarsorrhaphy or orbital irradiation or
decompression. Treatment for Graves is through anti-thyroid medications such as
carbimazole or propylthiouracil, radioactive iodine therapy, or partial or complete
thyroidectomy. All treatments have their downsides; antithyroid drugs cause rash,
myopathy, alopecia, agranulocytosis and aplastic anaemia and liver problems, radioactive
iodine is contraindicated in pregnancy, iodine allergy, radiation risk (incontinent),
solitary nodules and in eye disease which it may worsen, surgery has complications such
as vocal cord paralysis and hypoparathyroidism.
Other causes of exophthalmos?
Bilateral Graves Dx, cavernous sinus thrombosis, caroto-cavernous fistula (pulsating
globe)
Unilateral orbital tumour or cellulitis

What are other causes for hyperthyroidism

Graves
Toxic solitary nodule
Toxic multinodular goitre
Overtreatment with thyroxine
Iodine toxicity
Post partum thyroiditis
XS TSH secretion from pituitary function
Amiodarone therapy

Ix for hypothyroidism?

TFTs High TSH, low T4

May be anaemic and hyponatraemic
May have raised CK and cholesterol
ECG small complex, bradycardia, heart block

Ix hyperthyroidism

TFTs
TSHR-Abs

Treatment of hypothyroidism?

Replacement with L-thyroxine lifelong.

(Complications if too rapid IHD with MI, Angina, heart failure)

What complications of hypothyroidism do you know?

Cardiac heart failure, pericarditis/effusion, HTN, IHD, bradycardia,

Neuro psychosis, pseudodementia, myxoedema coma, carpal tunnel syndrome,
peripheral neuropathy, cerebellar signs
Hashimotos thyroiditis

Association with Addisons, Graves, Pernicious anaemia, vitiligo, Rheum arthritis, DM,
hypoparathyroidism, UC, SLE

Ix for multinodular goitre?

TFTs
US goitre
Radioisotope scan hot or cold (cold may be malignant)
FNA of cold nodules
If affecting local structures CT or MRI
Stridor flow/volume loops

Solitary thyroid nodule?

Single larger nodule in multinodular goitre
Thyroid adenoma
Toxic ademoma
Thyroid cyst
Thyroid cancer
o Papillary commonest, young pts, good prognosis
o Follicular elderly, can spread haematologically
o Anaplastic elderly, aggressive, local invasion, poor prognosis
o Medullary young, rare, secrete calcitonin or ACTH
o Lymphoma young
Acromegaly

Hx
Change in hand size
Change in shoe size
Non-fitting dentures
Change in facial features
Systemic features
Tunnel vision/Visual probs
Diabetes
Hypertension
Pains in hands at night or writing - CTS

Ex

Hands
Hands large and wide and doughy
Carpal tunnel release scars or thenar eminence wasting and median nerve sensory
loss
Sweaty

Face
Supraorbital ridges
Jaw - prognathism
Large Ears and nose
Acne
Macroglossia
Deep voice

Eyes
VISUAL FIELDS

Body
Kyphosis
Acanthosis nigricans
Skin tags

Say you would:

Check BP
Cardio Ex
Urine dip for glucose and BM

Ix
IGF1 - raised
GH levels after OGTT no suppression in acromegaly
MRI of sella Turcica
 Screen for hypopituitarism Prolactin, Testosterone, LH, FSH
Visual perimetry
CALCIUM for MEN1
Echo
BP
Diabetes
Consider bowel investigations as at higher risk of colonic polyps

What is MEN1?
Rare , AD, MEN1 gene
Pancreatic tumours
Pituitary tumours
Parathyroid hyperplasia/adenomata

What is MEN 2a?

RET gene
Medullary thyroid carcinoma
Phaeochromocytoma
Parathyroid hyperplasia

What is MEN 2b?

MEN2a plus:
Marfanoid body habitus
Mucosal neuromata

Causes of macroglossia
Amyloidosis
Hypothyroidism
Downs syndrome

Management?
Surgical if possible trans-sphenoidal or transfrontal hypophysectomy
Radiation / Bromocriptine / Octreotide

Post-operative complications?
Meningitis
Diabetes insipidus
Panhypopituitarism

What are the causes of acathosis nigricans?

Acromegaly
Obesity
T2DM
Gastrointestinal malignancy
Cushings

Hx:
Steroid use what is the reason for steroids???
Wt gain
Hirsutisn
Easy bruising
Acne
Proximal weakness (up stairs, etc)
Menstrual disturbance
Loss of libido
Depression
Back pain

On examination:
Moon-like facies
Buffalo hump
Hirsutism
Plethora
Candida
Striae
Obesity
Bruising
Proximal myopathy
Spinal tenderness

If on steroids examine appropriate system

Also:
BP
Dip urine glucose
CBG
Visual fields
Fundus optic atrophy or papilloedema, HTN of DM retinopathy

What are the causes of these features?

Iatrogenic steroid use
Pituitary adenoma Cushings Disease
Adrenal adenoma
Adrena carcinoma
Ectopic ACTH production from Small cell lung Ca or Medullary Thyroid Ca

Investigations?
24 hour free urinary cortisol
Plasma ACTH/Cortisol
 Overnight dexametasone suppression test
CXR? Malignancy
AXR adrenal calcification
US/CT/MR adrenal imaging

Treatment for Cushings disease?

Trans-sphenoidal microadenomectomy
Radiotherapy
Bilateral adrenalectomy
 EYES

Diabetic retinopathy

Hx
Visual changes
Hx DM
Ask about:
o Diagnosis
o Control
o Treatment
o MI, Stroke, Nerve probs, Eye probs, Kidney probs, ulcers
Clues: CBG meter, white stick, Insulin, Ophthalmoscopy

Ex
Hands for CBG marks
Pulse
Acuity
PERLA
Ophthalmoscopy
Eye movement
Leg ulceration
Peripheral pulses

Offer:
Peripheral neuropathy
Postural blood pressure

What is non-proliferative retinopathy (Background and pre-proliferative)?

Micro-aneurysms
Hard exudates
Dot and blot haemorrhages
Cotton wool spots

How to distinguish HTN and DM retinopathy?

Difficult
DM always has microaneurym formation

Management
Good glycaemic control
Screening
Ophthalmology referral
(urgent if loss of vision or proliferative changes)
Photocoagulation (reduces angiogenesis)
Other eye probs in diabetes?
Cataracts
Central retinal artery and vein occlusions
Vitreous haemorrhage
Isolated Cranial nerve palsy
Retinopathy

Hypertensive retinopathy

Grade 1:
Silver wiring

Grade 2:
AV nipping

Grade 3:
Cotton wool spots and flame haemorrhages

Grade 4:
Papilloedema
Retinitis pigmentosa

Hx
Tunnel vision
Night blindness
Hearing loss?
Balance probs
Heart probs

Ex
Acuity
Fields
EOMs
Ophthalmoscopy widespread scattering of black pigments sparing the macula
?Hearing loss Usher syndrome
?Obesity and polydactyly Laurence-Moon Syn
? Cerebellar ataxia, deafness, peripheral neuropathy, cardiomyopathy Refsums
Dx
?Ophthalmoplegia, bilateral ptosis and ICD (heart block) Kearns Sayre
syndrome
Ataxia Freidrichs
Abetalipoproteinaemia

What is it?
Genetic disease with rod-cone dystrophy which leads to apoptosis and visual loss.
Individuals usually are born with normal vision, only developing symptoms in early
adulthood or middle age. Loss of night vision and tunnel vision are the first signs, with
relative macular sparing. The disease is a conglomeration of multiple underlying genetic
defects with a similar end result, with some associated with systemic genetic conditions
with neurological and cardiac problems. There is no cure, and current treatments are
poorly effective at slowing disease progression (vitamin A, acetazolamide, omega 3,
valproate).

Inheritance?
AD, AR, X-linked all possible
Ptosis unilateral or bilateral???

Unilateral:
Horners syndrome
Facial nerve palsy
3rd nerve palsy

Bilateral (Muscle weakness):

Myasthenia gravis
Myotonic dystrophy
Guillain Barre syndrome with Miller Fisher variant
Fasciomusculoscapular dystrophy
Kearns Sayre syndrome (Retinitis pigmentosa, Ophthalmoplegia, bilateral ptosis
and
ICD (heart block)

History for unilateral:

Horners:
Dry face, shoulder, neck or chest pain, smoker, weight loss, cough, neck surgery

Bells/stroke:
Timing and onset, any arm/leg movement problems, any speech probs, viral prodrome,
travel to Lyme country, ear pain or rash

3rd nerve:
Sudden? Headache at time, double vision, head injury, diabetes, hypertension, PMHx

Examination for unilateral:

Hands:
Inflammatory Dx, CBG scars, wasting of small muscles of the hand, tar stains
Neck for scars/masses
Face asymmetry? Sweating
Pupils PERLA, RAPD
EOMs
Ear Ramsey hunt syndrome
Other CN changes
Offer Ophthalmoscopy raised ICP?
Examine chest apices in Horners
History for bilateral:
How long? Sudden, gradual
Any medical conditions
Any fatiguability
Visual probs
Double vision when?
Heart probs
Anyone in family affected

Examination for bilateral?

Hands peripheral wasting, myotonic grip, percussion myotonia, peripheral
weakness
Shoulder girdle weakness
Facies, frontal balding, cataracts
EOM with fatiguability (prolonged upgaze and counting down from 100)
PERLA
Facial movements
LOOK FOR THYMECTOMY SCAR!!!
Winged scapula
To complete: SPIROMETRY!!! ASCENDING WEAKNESS!!!
Horners

Unilateral ptosis
Small pupil (if large 3rd nerve)
Normal light reflexes (if not 3rd nerve)
Normal EOMs (If fatiguiability and EOMs MG)
Examine neck, supraclavicular area
Examine for wasting and sensory loss in the hands
Look for clubbing and tar staining
Look for brainstem signs nystagmus, cerebellar signs, CNs

Miosis small pupil that does not dilate on shading.

Ptosis mild

Anhidrosis ONLY if proximal to fibre separation along the internal and external
carotids.

Site can be:

Brainstem vascular, neoplastic, syringobulbia

C-spine
C8,T1 lesion brachial plexopathy
Cervical sympathetic chain pancoast lesion
Internal carotid artery trauma, dissection, aneurysm
Middle fossa

Can also be congenital, often with an unpigmented iris

Cocaine instillation will cause dilatation in pre-ganglionic lesions as the neurons are
intact and leak norad whos uptake is inhibited.

Ix CXR, CT Head/Vasculature.
Homonymous hemianopia

Hx:
Sudden? Unaware?
Accident

Ex:
Any part of my face missing?
Inattention
Visual acuity
Fields
Fundoscopy
Full neuro

Where is the lesion?

Past the optic chiasm (near the chiasm it may be incongruous)

What could cause it?

Vascular
Demyelinating
SoL
Bitemporal hemianopia

Hx:
Tunnel vision, accidents
Signs of pituitary disease

Ex:
Visual fields
Macular involvement
Signs of hypopituitarism pale skin, paucity of hair, testicular/breast atrophy,
optic atrophy
Acromegaly?

Causes:
Pituitary tumour (upper fields affected first)
Craniopharyngioma (lower first)
Suprasellar meningioma
Aneurysm, Glioma
Central scotoma

Hx:
A hole whilst reading

Ex:
Anything missing on my face?
Red pin map out scotoma and blind spot
Fundoscopy?
Pale disc optic atrophy
Normal retrobulbar neuritis
Swollen, pink papillitis

Causes:
Demyelinating
Optic nerve compression
Glaucoma
Toxins methanol, tobacco
Ischaemic
Hereditary Freidrichs ataxia, Lebers optic atrophy
Vit B12

Tunnel vision

Optic atrophy visual loss, Hx MS or glaucoma, Optic nerve tumour, B12 def,
Retinitis pigmentosa decreased night vision, peripheral vision loss, blurring
Choroidoretinitis HIV, Sarcoid, TB
 RHEUMATOLOGY

Systemic lupus erythematosis

Examination:
Rash
Telangectasia
Vasculitic phenomena
Cushingoid features to suggest LT steroids

Drug induced lupus: hydralazine, procainamide, isoniazid

Anti-histone positive
NEVER involve brain or kidney

Criteria for SLE

1) Malar rash
2) Discoid lupus
3) Photosensitivity
4) Oral ulcers
5) Arthritis
6) Serositis (Pleuritis/Pericarditis)
7) Renal disorder : Proteinuria >500 mg/d or cellular casts
8) Neurological disorder
9) Haematological disorder
10) Immunological disorder : anti dsDNA, anti Smith Ab, ACA/LA, false positive
VDRL
11) ANA

Need 4 out of 11 criteria

Investigations for activity C3,4 and ESR, CRP

Rheumatoid arthritis

Hx?
Arthritis/pains
New swollen joint
SoB
Infections
Any hearing problems

Ex
Hands peripheral symmetric deforming polyarthropathy involving MCP and PIP
joints with ulnar deviation, MCP subluxation, wasting of the small muscles of the
hand.
Examine for active synovitis
Look for any psoriatic nail changes or skin lesions
Look for nodules
Assess functional state buttons are good
Look for Cushingoid features
Examine chest for LZ fibrosis
Examine abdo for splenomegaly Feltys

Presentation:
Describe what you see
Describe deformities
Describe active or quiescent disease
Functional ability
Extra-articular features seen

Diagnostic Classification of RA?

American Rheumatism Association
7 criteria 4 or more is highly suggestive of the diagnosis
RhF positive
Typical XR findings
Early morning stiffness
3+ joints
Involvement of PIPs and MCPs
Symmetry
Rheum nodules
What are the extra-articular features of RA?

Resp effusions, nodules, fibrosis (disease or MTX)

Cardio effusions or pericarditis

Neuro Mononeuritis multiplex, sensory polyneuropathy, CTS

Ophth Scleritis, episcleritis, scleromalacia perforans, keratoconjunctivitis sicca

Renal Amyloid, nephropathy (drugs)

Other Rheum nodules, fatigue, anaemia, OP, depression, vasculitic skin changes

Causes of anaemia in RA?

Anaemia of chronic disease
Haemolytic anaemia
Aplastic anaemia/BM suppression from drugs e.g. methotrexate
Iron deficiency anaemia from gastritis due to NSAIDs
Hypersplenism with anaemia from Feltys syndrome
Associated pernicious anaemia
Anaemia from amyloid renal disease

What is Feltys syndrome?

Splenomegaly, Rheum arthritis (RhF positive) and neutropenia

Investigations for RA?

FBC, U&Es, LFTs prior to Rx
RhF IgM autoantiblody against Fc portion of IgG always postive if nodules,
Feltys or vasculitis
Anti-CCP about as sensitive, but more specific
XRs
Aspiration of synovial fluid Turbid, raised protein, raised WCC, normal or low
glucose, culture negative
Consider XRs of neck if subluxation considered

Management of RA?
Calculate DAS-28 number of joints inflamed or tender and ESR
MDT approach PT/OT
Medical NSAIDs and DMARDs (MTX or Sulfasalazine, however
hydroxychloroquine is particularly useful for palindromic disease)
Monitor DAS
Consider Biologicals antiTNF Adalimumab, Ertanacept or Infliximab (or IL1
anakinra) now used early in step-down approach
Precautions before starting antiTNFs?
Prev TB PMHx and CXR, consider Mantoux or TB Elispot also
HIV, Hep B and C
Baseline bloods
Exclude active infection
Consider Echocardiogram (brady and heart failure in Infliximab therapy)

What is Caplans syndrome?

Massive pulmonary fibrotic nodules due to coal workers pneumoconiosis in the
presence of seropositive rheumatoid arthritis

Predictors of worse prognosis?

Strongly rheumatoid factor positive 1:512
Number of joints at presentation
Extra-articular disease
Disability at presentation
Early joint erosions
High inflammatory markers
Disease not controlled after 12 months

Radiological changes?
Soft tissue swelling
Joint space narrowing
Erosions
Cyst formation
Joint destruction
Subluxation and dislocations
Psoriatic arthropathy

Examination:
The 5 patterns asymmetrical with DIPs and deformities typical
Nail pitting, onycholysis
Hyperkeratosis
Psoriatic plaques
o Elbows
o Hairline
o Ears
o Navel
o Extensors

What are the 5 types?

RA-like
Asymmetrical DIP arthropathy
Asymmetrical large joint Oligoarthropathy
Ankylosing spondylitis- like
Arthritis mutilans

Treatment for skin?

Sunlight, UV light, PUVA
Calcipotriol
Coal tar
Dithranol
Local steroids

Systemic treatment?
Acitretin
MTX, Sulfasalazine, Hydroxyurea
NSAIDs

Radiological findings?
Fluffy periosteitis
Small joint destruction
Pencil in cup appearance
Osteoarthritis

DDx RHEUM/OA/PSORIASIS/CRYSTALs

Hx:
Worsening joint pain
How long? Which joints? When worst?
Any joint probs in past
Any rashes
Any FHx
Morning stiffness
Functional limitation

Examination:
Hands:
Nails Psoriatic changes?
Herberdens nodes DIPs
Bouchards nodes PIPs
Squaring of thumb - 1st CMC likely OA
Any synovitis or crepitus
Finger movements esp: pincer grip
Wrist movements?
CTS scars
Examine exposed joints elbows, knees
Rash and nodules elbow
Rash or tophi ears
Rash on umbilicus
Neck movements
FUNCTIONAL STATUS BUTTONS

What are the XR changes of OA?

Joint space narrowing
Subchondral sclerosis
Osteophytes
Subchondral cysts
Ankylosing spondylitis

History:
Back pain worse with immobility or lying or sitting
Better on exercise
Morning stiffness > 1 hour
Shoulder and knee involvement
Ask about ADLs

Examination:
Loss of lumbar lordosis and fised thoracic kyphosis, with compensated C spine
extension.
Head turns to side, body turns en-block.
Decreased chest expansion with prominent abdominal breathing.
Schrober test of lumbar flexion.
Distal arthritis
Extra places to look:
Eye Iritis
CV AR and MVP
Chest Apical fibrosis
Heel pain with Achilles tendonitis
Dactylitis joint and finger swelling
Amyloidosis renal/gut involvement
DDx:
Look for scars on abdomen (IBD)
Look for psoriasis (Psoriatic)

What is it?
Inflammatory arthropathy characterised by sacroiliitis and enthesopathy of spine and
tendons. Leads to significant spinal deformity. Characterised by HLA B27 positivity,
commoner in males. May be part of another enthesopathy syndrome (reactive, psoriatic,
enteropathic)

Diagnostic criteria
Inflammatory pain +
Sacroiliitis
Alternating buttock pain
FHx
Psoriasis
IBD

The spondyloarthropathies:
Ank Spond
Psoriatic
Reactive
Enteropathic
Sarcoidosis

Presentation:
SoB
Skin lesions

History:
Skin lesions time course, pain, itching
Eye involvement uveitis, optic neuropathy
Neuro seizures, weakness, meningitis
Cardio
Arthralgias
Kidney problems
Sweats/ Fatigue
Bowel problems

Previous diagnoses?
Previous Ix?
DHx? Previous Drugs incl. ABx, OCP
PMHx? Rheumatic fever, Sarcoidosis, streptococcus infection, TB

Examination:

Skin lesions
All over body
Lupus pernio
Erythema nodosum
Nodules
Scar infiltration
Plaques

LNs lymphoma
Eyes uveitis
Parotid enlargement
Lung fibrosis
 SKIN

Pseudoxanthoma elasticum

What is it?
A genetic condition which causes abnormal mineralisation of connective tissues, with
dermatological, cardiac, ophthalmic and GI sequelae.

Tell me more.

It is an autosomal recessive condition where calcium mineralisation occurs on elastin

fibres in the skin, eyes and mid-sized arteries. It first manifests with the yellowish, raised
plaques on the skin of the axillae and neck, as well as the antecubital fossa, groin and
umbilicus. Ophthalmic complications include peau dorange retina and angioid streaks,
and may progress to severe retinal haemorrhages compromising vision. Cardiac
manifestations include aortic regurgitation and coronary artery disease. GI bleeding is
more common in these patients.

History?
GI bleeds?
Visual problems
Cardiac symptoms

What will you do?

Examine neck, axillae, antecubital fossa and umbilicus.
Feel peripheral pulses.
Auscultate for MR, MVP, AR
Ask about GI bleeds
Ask about vision
Check vision
Ophthalmoscopy
Tuberous sclerosis

TSC 1 and 2
Non-malignant tumours - hamartias, hamartomas, rarely malignant.
50% learning difficulties
Brain tumours - learning difficulties, seizures, hydrocephalus
Benign kidney neoplasms - haemorrhage/haematuria
Lungs - LAM (lymphangioleiomyomatosis)
Heart - rhabdomyomas
Skin - Facial angiofibromas - adenoma sebaceum
Nails - periungual fibrosis
Ashleaf spots - trunk - hypomelanic macules
Shagreen patches - dippled leathery skin patches
Eyes - retinal hamartomas

AD with variable expressivity

History?
Headache/seizure with tumour
Haematuria
SOB

To examine:
Nails
Skin
Face and eyes (incl Ophthalmoscopy)
Lungs
Feel for kidneys
Hereditary haemorrhagic telangectasia

Hx
SoB with failure or anaemia
Bleeding nose, PR

Ex
Multiple telangectasia on face
Look on earlobe, in mouth and on lips, as well as arms, nails and trunk
Look for anaemia
Look for cyanosis or clubbing (lung AVMs)
Look for evidence of heart failure
Listen for lung or hepatic bruits (AVMs)
Offer PR for melaena

Genetic Auto Dominant

AKA Rendu-Osler-Weber Disease

Mx:
Cautery
Oestrogen therapy
Ligation or embolisation of AVMs
Genetic counselling
Neurofibromatosis

DDx criteria
Caf au lait spots 6+
Axillary freckling
Neurofibromas
Lisch nodules
Optic glioma
FHx

Problems:
Learning difficulties
Childhood leukaemia
Acoustic neuromata
Kyphosis
Hypertension from Phaeo or RA stenosis

Type 1 von Recklinghausens disease

Type 2 bilateral hearing loss or acoustic neuromas
Erythema nodosum

Causes:

Idiopathic/ unknown
Sarcoidosis
Streptococcal infection
Tuberculosis
Infections other than TB or strep - HIV...
Pregnancy or oral contraceptives
Drugs other than OCAs
Inflammatory bowel disease
Behcet's disease

HIV related problems?

Hx?
Rash? Seborrhoeic dermatitis, drug rash, syphilis, Kaposis sarcoma
Lumps? KS, lymphoma, PGL
Jaundice? Hepatitis co-infection, Drugs
Mouth problems? Candida, OHL

Ask about
When diagnosed
CD4 and VL
On treatment adherent?
On prophylaxis
Any OIs? Any Cancer?
Marfans Syndrome

Autosomal dominant defect in fibrillin, a molecule in fibroblasts.

Examination:
Arm span > height
Arachnodactyly hypermobile
High arched palate
Long face
Bluew sclera
Underdeveloped musculature
Pectus excavatum
Kyphoscoliosis
Pneumothoraces
MVP
AR
Aortic root dilatation
Aneurysm
Herniae
Lens dislocation

Referral:
Ophth
Echo
Genetic analysis
 OTHER
Subclavian steal

Subclavian stenosis proximal to the origins of the vertebral arteries. If blood requirements
rise in the arm, there will be relative hypoperfusion of the posterior circulation with
associated symptoms.

Hx
Vertigo
Syncope
Transient loss of vision
Diplopia
Olfactory hallucination

These may occur with exercise of the arm

Ex
Weaker pulse unilaterally
Subclavial bruit
Other evidence of peripheral vascular disease