Sunday, October 9, 2022

 OSCE example 1: Breast examination 236

OSCE example 2: Scrotal pain history 236

212 • The reproductive system

BREAST

Anatomy and physiology

The breasts are modified sweat glands. The openings of

the lactiferous ducts are on the apex of the nipple, which is

erectile tissue. The nipple is in the fourth intercostal space in

the mid-clavicular line, but accessory breast/nipple tissue may

develop anywhere down the nipple line (axilla to groin) (Figs 11.1

and 11.2). The adult breast is divided into the nipple, the areola

and four quadrants (upper outer to lower inner), with an axillary tail

(of Spence) projecting from the upper outer quadrant (Fig. 11.3).

The size and shape of the breasts are influenced by age,

hereditary factors, sexual maturity, phase of the menstrual cycle,

parity, pregnancy, lactation and nutritional state. Fat and stroma

surrounding the glandular tissue determine the size of the breast,

except during lactation, when enlargement is mostly glandular. The

breast responds to fluctuations in oestrogen and progesterone

levels. Swelling and tenderness are common in the premenstrual

phase. The glandular tissue reduces and fat increases with age,

making the breasts softer and more pendulous. Lactating breasts

are swollen and engorged with milk, and are best examined

after breastfeeding.

The history

Benign and malignant conditions of the breast cause similar

symptoms but benign changes are much more common. The

most common presenting symptoms are a breast lump, breast

pain, and skin and nipple changes. Men may present with

gynaecomastia (breast swelling). Women are often worried that

they have breast cancer, whatever breast symptom they have,

and it is important to explore these concerns.

The history of the presenting symptoms is crucial. Find out

the nature and duration of symptoms, any changes over time

and any relationship to the menstrual cycle.

Ask about risk factors for breast cancer, in particular:

previous personal history of breast cancer

family history of breast or ovarian cancer and the age of

those affected

use of hormone replacement therapy

previous mantle radiotherapy for Hodgkin’s lymphoma.

Common presenting symptoms

Breast lump

Not all patients have symptoms. Women may present with an

abnormality on screening mammography or concerns about

their family history.

Ask:

Is it a single lump or multiple lumps?

Where is it?

Fig. 11.1 Accessory breast tissue in the axilla.

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Fig. 11.2 Cross-section of the female breast.

Tail of Spence

Upper outer

Lower inner

Upper inner

Lower outer

Fig. 11.3 Adult right breast.



Fig. 10.10 Hypopituitarism. A Hypopituitarism caused by a pituitary adenoma (note the fine, pale skin). B Absent axillary hair.

The physical examination • 203

10

A B

C

D

Fig. 10.11 Cushing’s syndrome. A Cushingoid facies. B After curative pituitary surgery. C Typical features: facial rounding and plethora, central

obesity, proximal muscle wasting and violaceous skin striae. D Skin thinning: purpura caused by wristwatch pressure.

10.4 Adrenal causes of endocrine hypertension

Condition Hormone produced in excess Associated features

Conn’s syndrome Aldosterone Hypokalaemia

Cushing’s syndrome Cortisol Central obesity, proximal myopathy, fragility fractures, spontaneous bruising,

skin thinning, violaceous striae, hypokalaemia

Phaeochromocytoma Noradrenaline (norepinephrine),

adrenaline (epinephrine)

Paroxysmal symptoms, including hypertension, palpitations, sweating

204 • The endocrine system

insufficiency, the pituitary increases ACTH secretion in

response to low cortisol levels. High levels of ACTH increase

melanocyte-stimulating hormone, leading to increased skin

pigmentation (most striking in white Caucasians). Vitiligo

(depigmentation of areas of skin) occurs in 10–20% of

Addison’s disease cases (Fig. 10.12A).

• Measure the blood pressure and test for postural

hypotension (p. 51), resulting from salt and water loss due

to inadequate mineralocorticoid.

Addison’s disease

Examination sequence

• Look for signs of weight loss.

• Examine the skin for abnormal or excessive pigmentation.

This is most prominent in sun-exposed areas or epithelia

subject to trauma or pressure: skin creases, buccal mucosa

(Fig. 10.12B) and recent scars. In primary adrenal

B

A

Fig. 10.12 Addison’s disease. A Hyperpigmentation in a patient with coexistent vitiligo. B Buccal pigmentation.

THE GONADS

Anatomy and physiology

The gonads (testes and ovaries) secrete sex hormones

(testosterone and oestrogen) in response to gonadotrophin

(FSH and LH) release by the pituitary. The reproductive system

is covered in Chapter 11.

The history

Common presenting symptoms

Most commonly, men present with androgen deficiency, whereas

women present with hyperandrogenism.

Hypogonadism can be primary (failure of the gonad itself) or

secondary (where reduced gonadotrophin levels cause gonadal

failure). Klinefelter’s syndrome (47XXY) is the most common cause

of primary hypogonadism in men (1:600 live male births; Fig.

10.13). Secondary hypogonadism may be caused by pituitary

disease, extremes of weight, or drugs that suppress hypothalamic

gonadotrophin releasing hormone release (such as anabolic

steroids or opiates). Presenting symptoms in men include loss

of libido, erectile dysfunction, loss of secondary sexual hair,

reduction in testicular size and gynaecomastia (p. 214).

Hyperandrogenism in women usually presents with hirsutism

(excessive male-pattern hair growth; Fig. 10.14), acne and/or

oligomenorrhoea, and is commonly due to polycystic ovarian

syndrome (PCOS; usually also associated with obesity).

Other less common causes should be considered (such as

congenital adrenal hyperplasia). Virilisation is suggested by

male-pattern baldness, deepening of the voice, increased

muscle bulk and clitoromegaly; if present in women with a short

history of severe hirsutism, consider a testosterone-secreting

tumour.

The history • 205

10

thirst: due to the resulting loss of fluid

weight loss: due to fluid depletion and breakdown of fat

and muscle secondary to insulin deficiency.

Other common symptoms are tiredness, mood changes and

blurred vision (due to glucose-induced changes in lens refraction).

Bacterial and fungal skin infections are common because of the

combination of hyperglycaemia, impaired immune resistance

and tissue ischaemia. Itching of the genitalia (pruritus vulvae in

women, balanitis in men) is due to Candida yeast infection (thrush).

Past medical, drug, family and

social history

Ask about:

Previous glucose intolerance or gestational diabetes, which

are risk factors for progression to type 2 diabetes.

Other autoimmune conditions such as thyroid disease

(increased incidence of type 1 diabetes).

Drug therapy: glucocorticoids can cause steroid-induced

diabetes.

Family history of diabetes or autoimmune disease.

Monogenic diabetes is usually inherited in an autosomal

dominant manner. Patients are often slim (unlike those with

type 2 diabetes) but do not require insulin at diagnosis (unlike

those with type 1 diabetes). Monogenic diabetes should be

considered in people presenting with diabetes under the age

of 30 who have an affected parent or a family history of

early-onset diabetes in around 50% of first-degree relatives.

Smoking habit: combines with diabetes to increase the

risk of vascular complications.

Alcohol: raises the possibility of pancreatic diabetes.

DIABETES

Fig. 10.13 Klinefelter’s syndrome. Tall stature, gynaecomastia, reduced

pubic hair and small testes.

Fig. 10.14 Facial hirsutism.

Anatomy and physiology

The pancreas lies behind the stomach on the posterior abdominal

wall. Its endocrine functions include production of insulin (from beta

cells), glucagon, gastrin and somatostatin. Its exocrine function

is to produce alkaline secretions containing digestive enzymes.

Diabetes mellitus is characterised by hyperglycaemia caused

by absolute or relative insulin deficiency.

Diabetes may be primary or secondary. Primary diabetes is

divided into:

type 1: severe insulin deficiency due to autoimmune

destruction of the pancreatic islets. These patients are

susceptible to acute decompensation due to hypoglycaemia

or ketoacidosis, both of which require prompt treatment.

type 2: commonly affects people who are obese and

insulin-resistant, although impaired beta-cell function is

also important. These patients may decompensate by

developing a hyperosmolar hyperglycaemic state.

Secondary causes of diabetes and the associated history and

examination features are described in Box 10.5.

The history

Common presenting symptoms

Diabetes mellitus commonly presents with a classical triad of

symptoms:

polyuria (and nocturia): due to osmotic diuresis caused by

glycosuria

206 • The endocrine system

Assessment of a patient with newly

diagnosed diabetes

Examination sequence

• Look for evidence of weight loss and dehydration.

Unintentional weight loss is suggestive of insulin deficiency.

• Check for clinical features of acromegaly or Cushing’s

syndrome.

• Look for Kussmaul respiration (hyperventilation with a

deep, sighing respiratory pattern) or the sweet smell of

ketones, both of which suggest insulin deficiency and

diabetic ketoacidosis.

• Skin: look for signs of infection such as cellulitis, boils,

abscesses and fungal infections, paying particular attention

to the feet (see later). Look for signs of insulin resistance

such as acanthosis nigricans (Fig. 10.15A). Necrobiosis

lipoidica, a yellow, indurated or ulcerated area surrounded

by a red margin indicating collagen degeneration (Fig.

10.15B), may occur on the shins in type 1 diabetes and

often causes chronic ulceration.

• Look for xanthelasmata and xanthomata (Fig. 10.15C; see

Fig. 4.6); these are suggestive of dyslipidaemia, which may

occur in type 2 diabetes.

• Measure the pulse and blood pressure, and examine the

cardiovascular and peripheral vascular systems, with a

particular emphasis on arterial pulses in the feet (p. 69).

• Examine the central nervous system, with a particular

focus on sensation in the lower limbs (p. 143).

• Test visual acuity and perform fundoscopy (p. 164; see

Fig. 8.16).

• Perform urinalysis for glycosuria.

Microvascular, neuropathic and macrovascular complications

of hyperglycaemia can occur in patients with any type of diabetes

mellitus, and may be present at diagnosis in patients with

slow-onset type 2 disease.

Glycosuria is in keeping with diabetes; the presence of urinary

(or blood) ketones suggests insulin deficiency and the possibility

of diabetic ketoacidosis. Other investigations to consider are

summarised in Box 10.7.

In established diabetes, vital aspects of the history (Box

10.6) and examination should be reviewed at least once

a year.

The physical examination

The physical examination will differ, depending on whether this

is a new presentation of diabetes or a patient with established

diabetes attending for their annual review.

10.6 Routine history taking as part of the annual

review in diabetes

Glycaemic control

• Ask about frequency of blood glucose testing and frequency and

awareness of symptoms of hypoglycaemia

• When relevant, give guidance on driving and/or pre-pregnancy

preparation

Injection sites

• Enquire about any lumpiness (lipohypertrophy), bruising or

discomfort

Symptoms of macrovascular disease

• Ask whether there has been any angina, myocardial infarction,

claudication, stroke or transient ischaemic attack since the last

clinic review

Symptoms of microvascular disease

• Ask whether there has been any change in vision or any numbness

or altered sensation in the feet

Feet

• Ask about neuropathy and peripheral vascular symptoms as above

• Enquire about any breaks in the skin, infections or ulcers

Autonomic neuropathy

• Enquire about erectile dysfunction in men

• Ask about postural hypotension, sweating, diarrhoea and vomiting in

all patients

10.5 Causes of secondary diabetesa

Cause of diabetes Examples Clinical features

Pancreatic disease Pancreatitis Abdominal pain

Trauma/pancreatectomy Surgical scar

Neoplasia Weight loss

Cystic fibrosis Chronic cough, purulent sputum

Haemochromatosis Skin pigmentation (‘bronze diabetes’)

Endocrinopathies Acromegaly, Cushing’s syndrome p. 202

Drugs Glucocorticoids (e.g. prednisolone)

Antipsychotics (e.g. olanzapine)

Features of Cushing’s syndrome (see Fig. 10.11)

Immunosuppressants (e.g. ciclosporin, tacrolimus) Gum hypertrophy may be seen with ciclosporin use

Pregnancy Gestational diabetes may develop in the third trimester Gravid uterus

Monogenic defects in

beta-cell function

Glucokinase deficiency Glucokinase deficiency is present from birth with

stable mild hyperglycaemia

Genetic syndromes associated

with diabetes

Down’s syndrome p. 36

Turner’s syndrome p. 36

a

Based on classification by the American Diabetes Association.

The physical examination • 207

10

The diabetic foot

Up to 40% of people with diabetes have peripheral neuropathy and

40% have peripheral vascular disease, both of which contribute

to a 15% lifetime risk of foot ulcers (Fig. 10.16).

Early recognition of the ‘at-risk’ foot is essential. There are

two main presentations:

Neuropathic: neuropathy predominates but the major

arterial supply is intact.

Neuroischaemic: reduced arterial supply produces

ischaemia and exacerbates neuropathy.

Infection may complicate both presentations.

Examination sequence

• Look for hair loss and nail dystrophy.

• Examine the skin (including the interdigital clefts) for

excessive callus, skin breaks, infections and ulcers. Look

for any discoloration. Distal pallor can suggest early

ischaemia, while purple/black discoloration suggests

gangrene.

• Ask the patient to stand so that you can assess the foot

arch; look for deformation of the joints of the feet.

• Feel the temperature of the feet.

• Examine the dorsalis pedis and posterior tibial pulses. If

absent, arrange Doppler studies and evaluate the

ankle:brachial pressure index (p. 69).

• Test for peripheral neuropathy: use a 10-g monofilament

to apply a standard, reproducible stimulus. The technique

Routine review of a patient with diabetes

Examination sequence

• Weigh the patient: weight gain in type 2 diabetes is likely

to be associated with worsening insulin resistance while

weight loss in type 1 diabetes often suggests poor

glycaemic control and inadequate insulin dosage.

• For patients on insulin, examine insulin injection sites for

evidence of lipohypertrophy (which may cause

unpredictable insulin release), lipoatrophy (rare) or signs of

infection (very rare).

• Measure the pulse and blood pressure.

• Test visual acuity and perform fundoscopy (p. 164; see

Fig. 8.16).

• Examine the feet (see the next section).

• Perform routine biochemical screening (Box 10.7).

A

B

C

Fig. 10.15 Diabetes and the skin. A Acanthosis nigricans.

B Necrobiosis lipoidica. C Eruptive xanthomata.

10.7 Investigations in diabetes

Investigation Indication/comment

Diagnostic investigations

Fasting glucose, random

glucose, oral glucose

tolerance test

To make a diagnosis of diabetes.

Patients will also monitor capillary blood

glucose to adjust their treatment

HbA1c Can be used for diagnosis of type 2

diabetes and to assess glycaemic burden

Urine or blood ketone

measurement

Ketones suggest insulin deficiency,

which occurs in type 1 diabetes and in

diabetes due to pancreatic pathology

Pancreatic antibodies

(anti-GAD and islet cell)

To confirm a diagnosis of autoimmune

diabetes

Annual review investigations

HbA1c An important measure of glycaemic

control over the preceding 3 months;

predicts risk of complications

Urea and electrolytes To assess for the presence of diabetic

nephropathy

Lipid profile To aid estimation of cardiovascular risk

and guide treatment with lipid-lowering

therapy

Thyroid function tests To screen for the commonly associated

hypothyroidism

Urine albumin : creatinine

ratio

To assess for early signs of diabetic

nephropathy (microalbuminuria)

Digital retinal photography

or fundoscopy

To screen for diabetic retinopathy and/or

maculopathy

GAD, glutamic acid decarboxylase.

208 • The endocrine system

and the best sites to test are shown in Fig. 10.17. Avoid

areas of untreated callus. Sensory loss typically occurs in

a stocking distribution.

• Assess dorsal column function by testing vibration and

proprioception.

• Undertake a foot risk assessment to guide management

(Box 10.8).

Hair loss and nail dystrophy occur with ischaemia. Feet are

warm in neuropathy and cold in ischaemia. Ischaemic ulcers are

typically found distally: at the tips of toes (see Fig. 10.16B), for

example. There may be skin fissures or tinea infection (‘athlete’s

foot’). Loss of sensation to vibration (p. 143) and proprioception

(p. 144) are early signs of diabetic peripheral neuropathy. Sensory

neuropathy is present if the patient cannot feel the monofilament

on the sites shown in Fig. 10.17. This suggests loss of protective

pain sensation and is a good predictor of future ulceration.

With significant neuropathy, the foot arch may be excessive or

collapsed (rocker-bottom sole). Both conditions cause abnormal

pressures and increase the risk of plantar ulceration (see Fig.

10.16C), particularly in the forefoot. Charcot’s arthropathy is

disorganised foot architecture, acute inflammation, fracture and

bone thinning in a patient with neuropathy. It presents acutely

as a hot, red, swollen foot and is often difficult to distinguish

clinically from infection.

10.8 Risk assessment of the diabetic foot

Level of risk Definition Action required

Low No sensory loss, peripheral vascular disease or other risk factors Annual foot screening can be undertaken by any trained

healthcare professional

Moderate One risk factor present, e.g. absent pulses or reduced sensation Annual foot screening should be undertaken by a podiatrist

High Previous ulceration or amputation, or more than one risk factor

present

Annual screening should be undertaken by a specialist

podiatrist

Active foot disease Ulceration, spreading infection, critical ischaemia or an

unexplained red, hot, swollen foot

Prompt referral to a multidisciplinary diabetic foot team is

required

A

B

C

Fig. 10.16 Diabetic foot complications. A Infected foot ulcer with

cellulitis and ascending lymphangitis. B Ischaemic foot: digital gangrene.

C Charcot arthropathy with plantar ulcer.

A B

Fig. 10.17 Monofilament sensory testing of the diabetic foot.

A Apply sufficient force to allow the filament to bend. B Sites at highest

risk (toes and metatarsal heads).

The physical examination • 209

10

OSCE example 1: Neck swelling

Miss Duncan, 27 years old, presents with a 6-month history of palpitations, weight loss and neck swelling.

Please examine her thyroid status

• Introduce yourself and clean your hands.

• Carry out a general inspection, observing dress, body habitus, agitation, restlessness, diaphoresis, anxiety, exophthalmos, goitre and neck scars.

• Inspect the hands for vitiligo, palmar erythema, thyroid acropachy and fine tremor (hands outstretched with paper over the dorsum).

• Palpate the pulse for bounding pulse, tachycardia and atrial fibrillation.

• Inspect the eyes for lid retraction (scleral show) and exophthalmos (look down from above and behind the patient).

• Test eye movements for ophthalmoplegia and lid lag.

• Examine the neck for scars, goitre, lymphadenopathy. Ask the patient to swallow to see the thyroid gland rise on swallowing.

• Palpate the thyroid (again on swallowing) and cervical lymph nodes; percuss manubrium for retrosternal goitre.

• Auscultate any goitre for bruit.

• Assess the patient for proximal myopathy (ask them to stand from sitting, with their arms crossed).

• Examine the shins for pretibial myxoedema and test for hyper-reflexia.

• Thank the patient and clean your hands.

Summarise your findings

The patient is thin, with a fine tremor, tachycardia, exophthalmos and lid lag. In the neck there is a smooth, non-tender goitre.

Suggest a diagnosis

These findings suggest autoimmune thyrotoxicosis (Graves’ disease).

Suggest investigations

Thyroid function tests, thyroid receptor autoantibodies and thyroid scintigraphy.

Advanced level comments

Thyrotoxicosis may cause an elevated alkaline phosphatase and hypercalcaemia due to increased bone turnover and a normochromic normocytic

anaemia.

OSCE example 2: Diabetic feet

Mr Birnam, 67 years old, has type 2 diabetes and presents with pain in his lower limbs.

Please examine his feet

• Introduce yourself and clean your hands.

• Carry out a general inspection of the lower limbs, looking for hair loss, nail dystrophy or discoloration.

• Inspect the skin for excessive callus, infections and ulcers.

• Inspect the joints. Ask the patient to stand so that you can assess the foot arch and look for deformation of the joints of the feet.

• Palpate the feet to assess the temperature of the skin.

• Palpate the dorsalis pedis and posterior tibial pulses.

• Test for peripheral neuropathy using a 10-g monofilament and tuning fork.

• Thank the patient and clean your hands.

Summarise your findings

The patient has pale, cool feet with absent dorsalis pedis pulses bilaterally. The skin is intact but there is loss of sensation in a stocking distribution in

both feet.

Suggest a diagnosis

The most likely diagnosis is peripheral vascular disease and peripheral neuropathy secondary to diabetes.

Suggest investigations

Doppler studies to evaluate the ankle : brachial pressure index. Review of diabetes control.

Advanced level comments

With peripheral neuropathy, also take an alcohol history and check vitamin B12 levels to take other common causes of peripheral sensory loss into

account. Peripheral neuropathy can be confirmed on nerve conduction studies. Offer an examination for other microvascular complications, such as

retinopathy (fundoscopy) and nephropathy (test urine for microalbuminuria).

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11

The reproductive system

Oliver Young

Colin Duncan

Kirsty Dundas

Alexander Laird

Breast 212

Anatomy and physiology 212

The history 212

Common presenting symptoms 212

The physical examination 214

Investigations 216

Female reproductive system 216

Anatomy and physiology 216

The history 217

Common presenting symptoms 217

Drug history 219

Family and social history 220

Sexual history 220

The physical examination 220

Passing a speculum 220

Taking a cervical smear 222

Bimanual examination 222

Investigations 223

Obstetric history and examination: the booking visit 225

The history 225

Past medical history 225

Drug, alcohol and smoking history 225

Family history 225

Social history 225

Investigations 226

Routine antenatal check in later pregnancy 226

The history 226

Common presenting symptoms 226

The physical examination 228

Investigations 230

Male reproductive system 230

Anatomy and physiology 230

The history 230

Common presenting symptoms 231

Past medical history 233

Drug history 233

Social history 233

The physical examination 233

Skin 233

Penis 233

Scrotum 234

Prostate 235

Investigations 235

OSCE example 1: Breast examination 236

OSCE example 2: Scrotal pain history 236

212 • The reproductive system

BREAST

Anatomy and physiology

The breasts are modified sweat glands. The openings of

the lactiferous ducts are on the apex of the nipple, which is

erectile tissue. The nipple is in the fourth intercostal space in

the mid-clavicular line, but accessory breast/nipple tissue may

develop anywhere down the nipple line (axilla to groin) (Figs 11.1

and 11.2). The adult breast is divided into the nipple, the areola

and four quadrants (upper outer to lower inner), with an axillary tail

(of Spence) projecting from the upper outer quadrant (Fig. 11.3).

The size and shape of the breasts are influenced by age,

hereditary factors, sexual maturity, phase of the menstrual cycle,

parity, pregnancy, lactation and nutritional state. Fat and stroma

surrounding the glandular tissue determine the size of the breast,

except during lactation, when enlargement is mostly glandular. The

breast responds to fluctuations in oestrogen and progesterone

levels. Swelling and tenderness are common in the premenstrual

phase. The glandular tissue reduces and fat increases with age,

making the breasts softer and more pendulous. Lactating breasts

are swollen and engorged with milk, and are best examined

after breastfeeding.

The history

Benign and malignant conditions of the breast cause similar

symptoms but benign changes are much more common. The

most common presenting symptoms are a breast lump, breast

pain, and skin and nipple changes. Men may present with

gynaecomastia (breast swelling). Women are often worried that

they have breast cancer, whatever breast symptom they have,

and it is important to explore these concerns.

The history of the presenting symptoms is crucial. Find out

the nature and duration of symptoms, any changes over time

and any relationship to the menstrual cycle.

Ask about risk factors for breast cancer, in particular:

previous personal history of breast cancer

family history of breast or ovarian cancer and the age of

those affected

use of hormone replacement therapy

previous mantle radiotherapy for Hodgkin’s lymphoma.

Common presenting symptoms

Breast lump

Not all patients have symptoms. Women may present with an

abnormality on screening mammography or concerns about

their family history.

Ask:

Is it a single lump or multiple lumps?

Where is it?

Fig. 11.1 Accessory breast tissue in the axilla.

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Fig. 11.2 Cross-section of the female breast.

Tail of Spence

Upper outer

Lower inner

Upper inner

Lower outer

Fig. 11.3 Adult right breast.





Fractures, dislocations and trauma • 279

13

The history

Establish the mechanism of injury. For example, a patient who

has fallen from a height on to their heels may have obvious

fractures of the calcaneal bones in their ankles but is also at

risk of fractures of the proximal femur, pelvis and vertebral

column.

The physical examination

Use the ‘Look – feel – move’ approach. Observe patients

closely to see if they move the affected part and are able to

weight-bear.

Examination sequence

Look

• See if the skin is intact. If there is a breach in the skin and

the wound communicates with the fracture, the fracture is

open or compound; otherwise it is closed.

• Look for associated bruising, deformity, swelling or wound

infection (Fig. 13.48).

Feel

• Gently feel for local tenderness.

• Feel distal to the suspected fracture to establish if

sensation and pulses are present.

Fractures, dislocations and trauma

A fracture is a breach in the structural integrity of a bone. This

may arise in:

normal bone from excessive force

normal bone from repetitive load-bearing activity (stress

fracture)

bone of abnormal structure (pathological fracture, see Box

13.18) with minimal or no trauma.

The epidemiology of fractures varies geographically. There

is an epidemic of osteoporotic fractures because of increasing

elderly populations. Although any osteoporotic bone can fracture,

common sites are the distal radius (Fig. 13.47), neck of femur

(see Fig. 13.33), proximal humerus and spinal vertebrae.

Fractures resulting from road traffic accidents and falls are

decreasing because of legislative and preventive measures such

as seat belts, air bags and improved roads. A fracture may occur

in the context of severe trauma.

A

Fig. 13.46 Ruptured Achilles tendon. A Site of a palpable defect in the

Achilles tendon (arrow). B Thomson’s test. Failure of the foot to

plantar-flex when the calf is squeezed is pathognomonic of an acute

rupture of the Achilles tendon.

$

%

Fig. 13.47 Colles’ fracture. A Clinical appearance of a dinner-fork

deformity. B X-ray appearance.

280 • The musculoskeletal system

Move

• Establish whether the patient can move joints distal and

proximal to the fracture.

• Do not move a fracture site to see if crepitus is present;

this causes additional pain and bleeding.

Describe the fracture according to Box 13.19. For each

suspected fracture, X-ray two views (at least) at perpendicular

planes of the affected bone, and include the joints above and

below.

$ %

Fig. 13.48 Ankle deformity. A Clinical appearance. B Lateral X-ray

view showing tibiotalar fracture dislocation.

13.19 Describing a fracture

• What bone(s) is/are involved?

• Is the fracture open (compound) or closed?

• Is the fracture complete or incomplete?

• Where is the bone fractured (intra-articular/epiphysis/physis/

metaphysis/diaphysis)?

• What is the fracture’s configuration (transverse/oblique/spiral/

comminuted (multifragmentary)/butterfly fragment)?

• What components of deformity are present?

• Translation is the shift of the distal fragment in relation to the

proximal bone. The direction is defined by the movement of the

distal fragment, e.g. dorsal or volar, and is measured as a

percentage.

• Angulation is defined by the movement of the distal fragment,

measured in degrees.

• Rotation is measured in degrees along the longitudinal axis of

the bone, e.g. for spiral fracture of the tibia or phalanges.

• Shortening: proximal migration of the distal fragment can cause

shortening in an oblique fracture. Shortening may also occur if

there has been impaction at the fracture site, e.g. a Colles’

fracture of the distal radius.

• Is there distal nerve or vascular deficit?

• What is the state of the tissues associated with the fracture (soft

tissues and joints, e.g. fracture blisters, dislocation)?

13.20 Common musculoskeletal investigations

Investigation Indication/comment

Urinalysis

Protein Glomerular disease, e.g. SLE, vasculitis

Secondary amyloid in RA and other chronic arthropathies

Drug adverse effects, e.g. myocrisin, penicillamine

Blood Glomerular disease, e.g. SLE, vasculitis

Haematological

Full blood count Anaemia in inflammatory arthritis, blood loss after trauma

Neutrophilia in sepsis and very acute inflammation, e.g. acute gout

Leucopenia in SLE, Felty’s syndrome and adverse effects of antirheumatic drug therapy

Erythrocyte sedimentation rate/plasma viscosity Non-specific indicator of inflammation or sepsis

C-reactive protein Acute-phase protein

Biochemical

Urea and creatinine ↑ in renal impairment, e.g. secondary amyloid in RA or adverse drug effect

Uric acid May be ↑ in gout. Levels may be normal during an acute attack

Calcium ↓ in osteomalacia; normal in osteoporosis

Alkaline phosphatase ↑ in Paget’s disease, metastases, osteomalacia and immediately after fractures

Angiotensin-converting enzyme ↑ in sarcoidosis

Urinary albumin : creatinine ratio Glomerular disease, e.g. vasculitis, SLE

Serological

Immunoglobulin M rheumatoid factor ↑ titres in 60–70% of cases of RA; occasionally, low titres in other connective diseases. Present

in up to 15% of normal population. Superseded by anti-cyclic citrullinated peptide antibodies

Anti-cyclic citrullinated peptide antibody (ACPA) Present in 60–70% of cases of RA and up to 10 years before onset of disease. Highly specific for

RA. Occasionally found in Sjögren’s syndrome

Antinuclear factors ↑ titres in most cases of SLE; low titres in other connective tissue diseases and RA

Anti-Ro, Anti-La Sjögren’s syndrome

Investigations

Common investigations in patients with musculoskeletal disease

are summarised in Box 13.20.

Investigations • 281

13

13.20 Common musculoskeletal investigations – cont’d

Investigation Indication/comment

Anti-double-stranded DNA SLE

Anti-Sm SLE

Anti-ribonucleoprotein Mixed connective tissue disease

Antineutrophil cytoplasmic antibodies Granulomatosis with polyangiitis, polyarteritis nodosa, Churg–Strauss vasculitis

Other

Schirmer tear test, salivary flow test Keratoconjunctivitis sicca (dry eyes), Sjögren’s syndrome

Imaging

Plain radiography (X-ray) Fractures, erosions in RA and psoriatic arthritis, osteophytes and joint-space loss in osteoarthritis,

bone changes in Paget’s disease, pseudofractures (Looser’s zones) in osteomalacia

Ultrasonography Detection of effusion, synovitis, cartilage breaks, enthesitis and erosions in inflammatory arthritis.

Double contour sign in gout

Detection of bursae, tendon pathology and osteophytes

Magnetic resonance imaging Joint and bone structure; soft-tissue imaging

Computed tomography High-resolution scans of thorax for pulmonary fibrosis

Dual-energy X-ray absorptiometry Gold standard for determining osteoporosis. Usual scans are of lumbar spine, hip and lateral

vertebral assessment for fractures

Isotope bone scan Increased uptake in Paget’s disease, bone tumour, infection, fracture. Infrequently used due to

high radiation dose.

Joint aspiration/biopsy

Synovial fluid microscopy Inflammatory cells, e.g. ↑ neutrophils in bacterial infection

Polarised light microscopy Positively birefringent rhomboidal crystals – calcium pyrophosphate (pseudogout)

Negatively birefringent needle-shaped crystals – monosodium urate monohydrate (gout)

Bacteriological culture Organism may be isolated from synovial aspirates

Biopsy and histology Synovitis – RA and other inflammatory arthritides

RA, rheumatoid arthritis; SLE, systemic lupus erythematosus.

OSCE example 1: Right shoulder pain

Mr Hunt, 38 years old, has a 2-month history of right shoulder pain with no history of trauma.

Please examine the shoulder

• Introduce yourself and clean your hands.

• Expose both of the patient’s shoulders and arms.

• Comment on acromioclavicular deformity and muscle wasting; look for winging of the scapula.

• Compare the right shoulder to the normal left shoulder.

• Perform active and passive movements. In particular, look for frozen shoulder, which is diagnosed by limitation of external rotation and flexion.

• Finally, examine the arm, looking for conditions such as biceps rupture.

• If all movements of the shoulder are normal, conduct a full examination of the neck.

• Thank the patient and clean your hands.

Summarise your findings

The patient reports pain between 120 and 60 degrees of abduction when lowering the abducted shoulder. Pain is reproduced on abduction against

resistance.

Suggest a differential diagnosis

The most common cause of these symptoms is impingement syndrome, which can be confirmed by carrying out special tests (Neer and Hawkins–

Kennedy). Differentials include frozen shoulder, calcific tendonitis, acromioclavicular joint pain, arthritis (osteoarthritis, rheumatoid arthritis or

post-traumatic), long head of biceps rupture and referred pain from the neck.

Suggested investigations

X-ray will reveal degenerative changes in osteoarthritis or tendon calcification. Ultrasound may demonstrate effusions, calcific deposits and tendon

damage/rupture.

282 • The musculoskeletal system

OSCE example 2: Painful hands

Mrs Hill, 46 years old, presents with an 8-week history of insidious onset of pain, stiffness and swelling of her hands. She smokes 15 cigarettes per day.

Please examine her hands

• Introduce yourself and clean your hands.

• Look:

• In this case there is swelling of two MCP joints on the right, and one PIP joint on the left.

• Normal nails and skin (therefore psoriatic arthropathy is unlikely).

• Feel:

• Ask first what is sore and seek permission to examine gently.

• Tender, soft swelling of the MCP and PIP joints in the hands and left elbow.

• In feet: tender across her MTP joints on squeeze test but no palpable swelling.

• Move:

• Painful MCP joints in right hand on active and passive flexion, reducing handgrip and fine movements.

Summarise your findings

The patient has tender, soft swelling of two MCP joints and one PIP joint. There is pain on active and passive movement of the affected joints, resulting

in limitation of hand function.

Suggest a differential diagnosis

The pattern of joint involvement, patient’s gender, duration of symptoms and history of smoking support a clinical diagnosis of rheumatoid arthritis. The

differential diagnosis of psoriatic arthropathy is less likely because of her normal nails and lack of the typical skin changes of psoriasis.

Suggest initial investigations

Full blood count, renal function tests, calcium, phosphate and liver function tests to assess for anaemia of chronic disease and to determine suitability

for disease-modifying antirheumatic drugs; C-reactive protein to assess the degree of systemic inflammation; anti-CCP antibody to confirm whether

seropositive rheumatoid arthritis is present; application of the 2010 American College of Rheumatology/European League Against Rheumatism criteria

(see Box 13.14) for classification of rheumatoid arthritis; hand and foot X-rays to detect any bony erosions; chest X-ray to look for rheumatoid lung

disease.

Integrated examination sequence for the locomotor system

• Ask the patient to undress to their underwear.

• Ask the GALS (gait, arms, legs, spine) questions and perform the GALS screen.

• Identify which joints require more detailed examination:

• What is the pattern of joint involvement?

• Is it likely to be inflammatory or degenerative?

• Examine gait and spine in more detail first, if appropriate, then position the patient on the couch for detailed joint examination.

• Assess the general appearance:

• Look for pallor, rashes, skin tightness, evidence of weight or muscle loss, obvious deformities.

• Check the surroundings for a temperature chart, walking aids and splints, if appropriate.

• Examine the relevant joint, or all joints if systemic disease suspected:

• Ask about tenderness before examining the patient.

• Look at the skin, nails, subcutaneous tissues, muscles and bony outlines.

• Feel for warmth, swelling, tenderness, and reducibility of deformities.

• Move:

– Active movements first: demonstrate to the patient then ask them to perform the movements. Is there pain or crepitus on movement?

– Passive movements second: determine the patient’s range of movement. Measure with a goniometer. What is the end-feel like? Describe the

deformities.

• If systemic disease is suspected, go on to examine all other systems fully.

• Consider what investigations are required:

• Basic blood tests.

• Inflammatory markers.

• Immunology.

• Ultrasound.

• X-rays.

• Special tests.

• Joint aspiration for synovial fluid analysis or culture.

14

The skin, hair and nails

Michael J Tidman

Anatomy and physiology 284

Skin 284

Hair 285

Nails 285

The history 285

Common presenting symptoms 285

Past medical and drug history 285

Family and social history 286

The physical examination 286

Distribution of a rash 286

Morphology of a rash 286

Morphology of lesions 290

Hair and nail signs 290

Supplementary examination techniques 291

Investigations 292

OSCE example 1: Pruritus 292

OSCE example 2: Pigmented lesion 293

Integrated examination sequence for the skin 293

284 • The skin, hair and nails

Dermatological conditions are very common (10–15% of general

practice consultations) and present to doctors in all specialties.

In the UK, 50% are lesions (‘lumps and bumps’), including skin

cancers, and most of the remainder are acute and chronic

inflammatory disorders (‘rashes’), including infections, with genetic

conditions accounting for a small minority.

Dermatological diagnosis can be challenging: not only is there a

vast number of distinct skin diseases, but also each may present

with a great variety of morphologies and patterns determined by

intrinsic genetic factors, with the diagnostic waters muddied still

further by external influences such as rubbing and scratching,

infection, and well-meaning attempts at topical and systemic

treatment. Even in one individual, lesions with the same pathology

can have a very variable appearance (for example, melanocytic

naevi, seborrhoeic keratoses and basal cell carcinomas).

Many skin findings will have no medical significance, but it is

important to be able to examine the skin properly in order to

identify tumours and rashes, and also to recognise cutaneous

signs of underlying systemic conditions. The adage that the skin

is a window into the inner workings of the body is entirely true,

and an examination of the integument will often provide the

discerning clinician with important clues about internal disease

processes, as well as with information about the physical and

psychological wellbeing of an individual.

Anatomy and physiology

Skin

The skin is the largest of the human organs, with a complex

anatomy (Fig. 14.1) and a number of essential functions

(Box 14.1). It has three layers, the most superficial of which

is the epidermis, a stratified squamous epithelium, containing

melanocytes (pigment-producing cells) within its basal layer, and

Langerhans cells (antigen-presenting immune cells) throughout.

The dermis is the middle and most anatomically complex layer,

containing vascular channels, sensory nerve endings, numerous

cell types (including fibroblasts, macrophages, adipocytes and

smooth muscle), hair follicles and glandular structures (eccrine,

sebaceous and apocrine), all enmeshed in collagen and elastic

tissue within a matrix comprising glycosaminoglycan, proteoglycan

and glycoprotein.

The deep subcutis contains adipose and connective tissue.

Dermatoses (diseases of the skin) may affect all three

layers and, to a greater or lesser extent, the various functions

of the skin.

Fig. 14.1 Structures of the skin.

Epidermis

Dermis

Subcutis

Shaft of hair

Opening of sweat duct

Sweat duct

Subpapillary vascular plexus

Sebaceous gland

Arrector pili muscle

Sweat gland

Hair follicle

Subcutaneous adipose tissue

Deep cutaneous vascular plexus

Muscle layer

14.1 Functions of the skin

• Protection against physical injury and injurious substances, including

ultraviolet radiation

• Anatomical barrier against pathogens

• Immunological defence

• Retention of moisture

• Thermoregulation

• Calorie reserve

• Appreciation of sensation (touch, temperature, pain)

• Vitamin D production

• Absorption – particularly fetal and neonatal skin

• Psychosexual and social interaction

The history • 285

14

Hair

Hair plays a role in the protective, thermoregulatory and sensory

functions of skin, and also in psychosexual and social interactions.

There are two main types of hair in adults:

vellus hair, which is short and fine, and covers most of the

body surface

terminal hair, which is longer and thicker, and is found on

trunk and limbs, as well as scalp, eyebrows, eyelashes,

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