A smooth red tongue with diffuse papillary atrophy occurs in
iron or vitamin B12 deficiency. Tongue protrusion may be limited
by neurological disease, painful mouth or a tight frenulum.
Macroglossia (enlarged tongue) occurs in Down’s syndrome,
acromegaly (see Fig. 10.9), hypothyroidism and amyloidosis.
Wasting and fasciculation of the tongue are features of motor
White plaques of candidiasis on the tongue or mucosa (Fig.
9.27A) come away easily when scraped but leukoplakia (a
keratotic precancerous condition) does not and requires excision
190 • The ear, nose and throat
swelling (p. 194), while movement on tongue protrusion
suggests a thyroglossal cyst (Fig. 9.28).
• Palpate the posterior triangle of the neck, including the
posterior border of sternocleidomastoid and anterior
border of trapezius. Palpate for occipital lymph nodes
• For any mass, note the size, site, consistency, edge,
fixation to deeper structures, tethering to the skin, warmth,
fluctuance, pulsatility and transillumination (p. 32).
Initial investigations are summarised in Box 9.11.
9.11 Mouth, throat and neck investigations
Investigation Indication/comment
Full blood count Infective causes of mouth, throat or
Monospot Infectious mononucleosis
Hepatosplenomegaly can occur in
infectious mononucleosis so liver
Throat swab Acute tonsillitis and pharyngitis
Patients may carry Streptococcus
pyogenes and have a viral infection
(detected by PCR), so swab does not
PCR may help identify viral causes
Endoscopy and biopsy Cancer of larynx and pharynx, changes
Computed tomography Cancer and metastases
PCR, polymerase chain reaction.
Mr Smith, 65 years old, presents with hoarseness.
Please take a history from the patient
• Introduce yourself and clean your hands.
• Invite the patient to describe the presenting symptoms, using open questioning.
conditions, including neurological problems.
• Ask about social history, including profession (singer, teacher), smoking and alcohol consumption.
• Address any patient concerns.
• Thank the patient and clean your hands.
Suggest initial investigations
Mrs Lewis, 55 years old, presents with a lump just under her left ear at the angle of her jaw.
• Introduce yourself and clean your hands.
ask the patient to swallow and stick out their tongue.
• Ask if the lump is painful and if the patient minds you examining it.
• Palpate the anterior and posterior triangles of the neck, and the parotid region.
• Assess facial nerve function if you suspect a parotid mass.
• Thank the patient and clean your hands.
The most likely diagnosis is a pleomorphic salivary adenoma in the tail of the parotid.
Ultrasound scan with or without fine-needle aspiration.
Integrated examination sequence for ear, nose and throat disease
• Inspect: pinna skin, shape, size, position, deformity, scars.
• Palpate: pinna, tragus, mastoid.
• Otoscopy: external auditory canal (swelling, discharge), tympanic membrane (red, perforated).
• If there is hearing loss: whispered voice test and tuning fork tests.
• If there are balance symptoms: vestibular examination, including Dix–Hallpike.
– External nose (swelling, bruising, skin changes, deformity).
– Inferior turbinates (hypertrophy, swelling, polyps).
– Nasal bones (bony or cartilaginous deformity).
– Airway patency using metal spatula.
• Examine the mouth and throat:
• Listen to the voice (rough, breathy, wet, muffled, nasal escape).
– Hard palate for cleft, abnormal arched palate, telangiectasia.
– Soft palate for cleft, bifid uvula, swelling or lesions.
– Tonsils, noting size, symmetry, colour, pus or membrane.
– Any lesion, identifying characteristics.
– Base of tongue or tonsils if asymmetrical.
– Parotid and submandibular ducts, feeling for stones.
– If there is midline swelling, ask the patient to swallow and stick out their tongue.
– Anterior and posterior triangles of the neck and parotid region.
– If there is a parotid lump, assess the facial nerve.
This page intentionally left blank
Common presenting symptoms 194
Past medical, drug, family and social history 196
Common presenting symptoms 198
Past medical, drug, family and social history 199
Common presenting symptoms 200
Common presenting symptoms 201
Past medical and drug history 202
Common presenting symptoms 204
Common presenting symptoms 205
Past medical, drug, family and social history 205
OSCE example 1: Neck swelling 209
OSCE Example 2: Diabetic feet 209
10.1 Common clinical features in endocrine disease
Symptom, sign or problem Differential diagnoses
Tiredness Hypothyroidism, hyperthyroidism, diabetes mellitus, hypopituitarism
Weight gain Hypothyroidism, PCOS, Cushing’s syndrome
Weight loss Hyperthyroidism, diabetes mellitus, adrenal insufficiency
Diarrhoea Hyperthyroidism, gastrin-producing tumour, carcinoid
Diffuse neck swelling Simple goitre, Graves’ disease, Hashimoto’s thyroiditis
Hirsutism Idiopathic, PCOS, congenital adrenal hyperplasia, Cushing’s syndrome
‘Funny turns’ or spells Hypoglycaemia, phaeochromocytoma, neuroendocrine tumour
Sweating Hyperthyroidism, hypogonadism, acromegaly, phaeochromocytoma
Flushing Hypogonadism (especially menopause), carcinoid syndrome
Resistant hypertension Conn’s syndrome, Cushing’s syndrome, phaeochromocytoma, acromegaly
Amenorrhoea/oligomenorrhoea PCOS, hyperprolactinaemia, thyroid dysfunction
Muscle weakness Cushing’s syndrome, hyperthyroidism, hyperparathyroidism, osteomalacia
PCOS, polycystic ovary syndrome.
Endocrine glands synthesise hormones that are released into
the circulation and act at distant sites. Diseases may result
from excessive or inadequate hormone production, or target
organ hypersensitivity or resistance to the hormone. The main
endocrine glands are the pituitary, thyroid, adrenals, gonads
(testes and ovaries), parathyroids and the endocrine pancreas.
With the notable exception of the pancreatic islet cells (which
release insulin) and the parathyroids, most endocrine glands
are themselves controlled by hormones released from the
Since hormones circulate throughout the body, symptoms and
signs of endocrine disease are frequently non-specific, affecting
many body systems (Box 10.1). Often, endocrine disease is
picked up incidentally during biochemical testing or radiological
imaging. Careful history taking and examination are required to
recognise characteristic patterns of disease. Thyroid disease and
diabetes mellitus are common and frequently familial; establishing
a detailed family history is therefore important. Some less common
endocrine disorders (such as multiple endocrine neoplasia) show
an autosomal dominant pattern of inheritance.
The thyroid is a butterfly-shaped gland that lies inferior to the
cricoid cartilage, approximately 4 cm below the superior notch
of the thyroid cartilage (Fig. 10.1A). The normal thyroid has a
volume of <20 mL and is palpable in about 50% of women and
25% of men. It is comprised of a central isthmus approximately
1.5 cm wide, covering the second to fourth tracheal rings, and
two lateral lobes that are usually no larger than the distal phalanx
of the patient’s thumb. The gland may extend into the superior
mediastinum and can be partly or entirely retrosternal. Rarely, it
can be located higher in the neck along the line of the thyroglossal
duct, an embryological remnant of the descent of the thyroid
from the base of the tongue to its final position. Thyroglossal
cysts can also arise from the thyroglossal duct; they often occur
at the level of the hyoid bone (Fig. 10.1A) and characteristically
move upwards on tongue protrusion. The thyroid is attached to
the pretracheal fascia and thus moves superiorly on swallowing
Thyrotoxicosis is a clinical state of increased metabolism caused
by elevated circulating levels of thyroid hormones. Graves’ disease
is the most common cause (Fig. 10.2 and Box 10.2). It is an
autoimmune disease with a familial component and is 5–10
times more common in women, usually presenting between 30
and 50 years of age. Other causes include toxic multinodular
goitre, solitary toxic nodule, thyroiditis and excessive thyroid
Hypothyroidism is caused by reduced levels of thyroid
hormones, usually due to autoimmune Hashimoto’s thyroiditis,
and affects women approximately six times more commonly
than men. Most other causes are iatrogenic and include previous
radioiodine therapy or surgery for Graves’ disease.
Goitre is enlargement of the thyroid gland (Fig. 10.3). It is not
necessarily associated with thyroid dysfunction and most patients
occult nodules; thus many are found incidentally on neck or
Neck pain is uncommon in thyroid disease and, if sudden in
onset and associated with thyroid enlargement, may represent
with goitre are euthyroid. Large or retrosternal goitres may cause
compressive symptoms, including stridor, breathlessness or
Thyroid nodules may be solitary (Fig. 10.3C) or may present as
a dominant nodule within a multinodular gland. Palpable nodules
(usually >2 cm in diameter) occur in up to 5% of women and
less commonly in men, although up to 50% of patients have
Past medical, drug, family and social history
• prior neck irradiation (risk factor for thyroid malignancy)
• recent pregnancy (postpartum thyroiditis usually occurs in
• drug therapy: antithyroid drugs or radioiodine therapy;
amiodarone and lithium can cause thyroid dysfunction
• family history of thyroid or other autoimmune disease
• residence in an area of iodine deficiency, such as the
Andes, Himalayas, Central Africa: can cause goitre and,
• smoking (increases the risk of Graves’ ophthalmopathy).
bleeding into an existing thyroid nodule. Pain can also occur in
viral subacute (de Quervain’s) thyroiditis.
History suggesting hyperthyroidism
• tremor, heat intolerance, excessive sweating (hyperhidrosis)
• pruritus (itch), onycholysis (loosening of the nails from the
• irritability, anxiety, emotional lability
• dyspnoea, palpitations, ankle swelling
• weight loss, hyperphagia, faecal frequency, diarrhoea
• proximal muscle weakness (difficulty rising from sitting or
• oligomenorrhoea or amenorrhoea (infrequent or ceased
• eye symptoms: ‘grittiness’, excessive tearing, retro-orbital
pain, eyelid swelling or erythema, blurred vision or diplopia
(these symptoms of ophthalmopathy occur in the setting
of autoimmune thyroid disease).
History suggesting hypothyroidism
• fatigue, mental slowing, depression
• symptoms of carpal tunnel syndrome
10.2 Features suggestive of Graves’ hyperthyroidism
• Prior episode of hyperthyroidism requiring treatment
• Family history of thyroid or other autoimmune disease
• Ocular symptoms (‘grittiness’, redness, pain, periorbital swelling)
• Diffuse thyroid enlargement (can be nodular)
• Signs of Graves’ ophthalmopathy (proptosis, redness, oedema)
The physical examination • 197
Many clinical features of hypothyroidism are produced by
myxoedema (non-pitting oedema caused by tissue infiltration
by mucopolysaccharides, chondroitin and hyaluronic acid; Figs
10.4 and 10.5). Other common findings in hypothyroidism include
goitre, cool, dry or coarse skin, bradycardia, delayed ankle reflexes
• Observe the facial appearance, noting signs of dry or
coarse hair and periorbital puffiness (Fig. 10.5).
• Inspect the hands for vitiligo, thyroid acropachy,
onycholysis and palmar erythema.
• Assess the pulse (tachycardia, atrial fibrillation,
bradycardia) and blood pressure.
• Auscultate the heart for a midsystolic flow murmur
• Inspect the limbs for coarse, dry skin and pretibial
• Assess proximal muscle power and deep tendon (ankle)
• Inspect the neck from the front, noting any asymmetry or
scars. Inspect the thyroid from the side with the patient’s
neck slightly extended. Extending the neck will cause the
thyroid (and trachea) to rise by a few centimetres and may
make the gland more apparent. Give the patient a glass of
water and ask them to take a sip and then swallow. The
thyroid rises (with the trachea) on swallowing.
• Palpate the thyroid by placing your hands gently on the
front of the neck with your index fingers just touching,
while standing behind the patient (see Fig. 10.1B). The
patient’s neck should be slightly flexed to relax the
Hyperthyroidism Hypothyroidism
Fig. 10.4 Features of hyper- and hypothyroidism. Fig. 10.5 Typical facies in hypothyroidism.
Look for signs of weight loss or gain (calculate the body mass
index), and assess the patient’s behaviour for signs of agitation,
restlessness, apathy or slowed movements. Patients may have
abnormal speech (pressure of speech suggests hyperthyroidism,
while speech is often slow and deep in hypothyroidism).
Hoarseness is suggestive of vocal cord paralysis and should
raise suspicion of thyroid malignancy.
Features of hyperthyroidism and hypothyroidism on examination
Features of thyrotoxicosis include warm, moist skin, proximal
muscle weakness (due to a catabolic energy state), tremor
and brisk deep tendon reflexes. Hyperthyroidism may also be
associated with tachycardia or atrial fibrillation, and a midsystolic
cardiac flow murmur due to increased cardiac output.
Thyroid acropachy is an extrathyroidal manifestation of
autoimmune thyroid disease. It is characterised by soft-tissue
swelling and periosteal hypertrophy of the distal phalanges, and
mimics finger clubbing (see Fig. 10.2C). It is often associated with
dermopathy and ophthalmopathy. Pretibial myxoedema is a raised,
discoloured (usually pink or brown), indurated appearance over
the anterior shins; despite its name, it is specifically associated
with Graves’ disease and not hypothyroidism (see Fig. 10.2D).
• Assess eye movements (see Fig. 8.11). Graves’
ophthalmopathy is characteristically associated with
Lid retraction (a staring appearance due to widening of the
palpebral fissure) and lid lag (see earlier) are common eye signs
associated with hyperthyroidism. Both are thought to be due
to contraction of the levator muscles as a result of sympathetic
hyperactivity. Periorbital puffiness (myxoedema) is sometimes
Graves’ ophthalmopathy occurs in around 20% of patients
and is caused by an inflammatory infiltration of the soft tissues
and extraocular muscles (see Fig. 10.2A,B). Features suggestive
of active inflammation include spontaneous or gaze-evoked
eye pain, and redness or swelling of the lids or conjunctiva.
Proptosis (protrusion of the globe with respect to the orbit) may
occur in both active and inactive Graves’ ophthalmopathy and
is often referred to as exophthalmos. Inflammation of the orbital
soft tissues may lead to other more severe features, including
corneal ulceration, diplopia, ophthalmoplegia and compressive
optic neuropathy (see Fig. 8.8D).
sternocleidomastoid muscles. Ask the patient to swallow
again and feel the gland as it moves upwards.
• Note the size, shape and consistency of any goitre and
• Palpate for cervical lymphadenopathy (see Fig. 3.27).
• Percuss the manubrium to assess for dullness due to
retrosternal extension of goitre.
• Auscultate with your stethoscope for a thyroid bruit. A
thyroid bruit (sometimes associated with a palpable thrill)
indicates abnormally high blood flow and is most
commonly associated with Graves’ disease. It may be
confused with other sounds: bruits from the carotid artery
or those transmitted from the aorta are louder along the
Early simple goitres are relatively symmetrical but may become
nodular with time. In Graves’ disease the surface of the thyroid is
usually smooth and diffuse; in uninodular or multinodular goitre
it is irregular (see Fig. 10.3). Diffuse tenderness is typical of
viral thyroiditis. Localised tenderness may follow bleeding into a
thyroid cyst. Fixation of the thyroid to surrounding structures (such
that it does not move on swallowing) and associated cervical
lymphadenopathy increase the likelihood of thyroid malignancy.
Further investigation of thyroid disorders is summarised in
• Look for periorbital puffiness or oedema, and lid
retraction (this is present if the white sclera is visible
above the iris in the primary position of gaze; see
• Examine for features of Graves’ ophthalmopathy, including
exophthalmos (look down from above and behind the
patient), lid swelling or erythema, and conjunctival redness
• Assess for lid lag: ask the patient to follow your index
finger as you move it from the upper to the lower part of
the visual field. Lid lag means delay between the
movement of the eyeball and descent of the upper eyelid,
exposing the sclera above the iris.
10.3 Investigations in thyroid disease
Investigation Indication/comment
Thyroid function tests To assess thyroid status
Antithyroid peroxidase antibodies Non-specific, high in autoimmune
Antithyroid stimulating hormone
Thyroid scintigraphy (123I, 99mTc) To assess areas of hyper-/
Computed tomography To assess goitre size and aid
Fine-needle aspiration cytology Thyroid nodule
Respiratory flow-volume loops To assess tracheal compression
There are usually four parathyroid glands situated posterior to
the thyroid (see Fig. 10.1A). Each is about the size of a pea
and produces parathyroid hormone, a peptide that increases
polyuria, polydipsia, renal stones, peptic ulceration, tender areas
of bone fracture or deformity (‘Brown tumours’: Fig. 10.6A),
No comments:
Post a Comment
اكتب تعليق حول الموضوع