Practical Manual in Clinical Medicine ABM Abdullah
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General ExaminationCHAPTER 1

CHAPTER CONTENTS
  • ❖ Face in different diseases
  • ❖ Xanthelasma
  • ❖ Xanthoma
  • ❖ Hands in different diseases
  • ❖ Claw hand
  • ❖ Clubbing
  • ❖ Koilonychia
  • ❖ Leuconychia
  • ❖ Nail changes in different dieases
  • ❖ Cyanosis
  • ❖ Fever
  • ❖ Neuroleptic malignant syndrome
  • ❖ Malignant hyperthermia
  • ❖ Pyrexia of unknown origin
  • ❖ Generalized lymphadenopathy
  • ❖ Cervical lymphadenopathy
  • ❖ Oedema
  • ❖ Pigmentation
  • ❖ Hirsutism
  • ❖ Hypertrichosis
  • ❖ Gynaecomastia
  • ❖ Hyperhydrosis
  • ❖ Pyoderma gangrenosum2
 
FACE IN DIFFERENT DISEASES
By looking at the patient's face, many clinical diagnoses are possible. Some examples are given below—
  • Myxoedematous face—patient looks apathetic, face is puffy with periorbital swelling, baggy eyelids with loss of outer 1/3rd of the eyebrows. There may be malar flash.
  • Cretinism—idiotic look, coarse face with thick lips, large ears.
  • Thyrotoxic face or Graves’ disease—bilateral or unilateral exophthalmos, the patient looks anxious, restless and fidgety. Thyroid gland is diffusely enlarged.
  • Cushingoid face—rounded, plethoric face giving rise to moon face appearance, also hirsutism and acne.
  • Acromegalic face—coarse facies, prominent supraorbital ridges, increased wrinkling of the forehead. Mandible, nose, lips and ears are large.
  • Mongoloid face (Down's syndrome)—flat nasal bridge, low set small ears, mouth appears small and tends to remain open. Tongue appears protruding with large, horizontal fissure.
  • Haemolytic face—frontal and parietal bossing with prominent malar bones.
  • Puffy face—see below.
  • Leonine face (in lepromatous leprosy)—skin of the face and forehead is thick and corrugated. Multiple nodules of variable sizes and shapes involving ear lobule, face and nose.
  • Bell's palsy (see in the Chapter Neurological Bell's Palsy).
  • Parkinsonian face—mask like, expressionless face with less blinking of the eyes, staring look and dribbling of saliva.
  • Marfanoid face—face is long, lean, elongated and narrow.
  • Mitral facies—malar flush.
  • Myopathic face—frontal baldness, long, lean, triangular, sad and expressionless face with wasting of temporalis and masseter.
  • Nephrotic face—puffy with periorbital swelling.
  • Achondroplasia—skull appears enlarged.
  • Superior vena caval (SVC) obstruction—puffy, oedematous, plethoric face with congested conjunctival vessels (blood shot eyes) and engorged nonpulsatile neck vein.
  • Sturge–Weber's syndrome—port wine stain.
  • Hepatic facies—muddy or pigmented discolouration, pinched face and sunken eyes, prominent malar bones.
  • Hippocratic face (in advanced peritonitis)—pinched nose, sunken eyes, collapsed temples, with crust on lips and clammy forehead.
  • Psychiatric disorders—depressed or anxious face.
  • Butterfly rash—photosensitive rash over both cheeks and bridge of the nose.
  • Systemic sclerosis—smooth, shiny, tight with hypopigmented and hyperpigmented areas. Nose is pinched up and tapered (beaking of nose, bird beak), loss of wrinkling of forehead. Lips are thin, pursed with puckering of the skin around mouth. Orifice of mouth is small (microstomia).
  • Myasthenic face—ptosis, usually bilateral, may be unilateral with frontalis over activity.
  • Turner's face—short and webbed neck, low hairline and redundant skinfold on the back of neck. Small lower jaw (micrognathia), small and fish-like mouth with low set, deformed ears.
  • Bilateral parotid enlargement.
  • Virile (virilization in female).3
  • Tabetic face—pseudoptosis (due to paralysis of tarsal muscles) with compensatory wrinkling of forehead.
  • Paget's disease—large cranium or mandible or forehead.
  • Facial asymmetry—hemiplegia and hemiatrophy.
  • Lupus perniopigmentation of the tip of the nose in sarcoidosis.
 
Loss of Lateral One Third of Eyebrow
  • Physiological.
  • Hypothyroidism.
  • Leprosy.
 
Butterfly Rash
Rash on the cheeks and bridge of the nose sparing the nasolabial fold.
Causes are—
  • Systemic lupus erythematosus or discoid lupus erythematosus (DLE).
  • Dermatomyositis.
  • Mixed connective tissue disease (MCTD).
  • Sarcoidosis.
  • Drug rash.
  • Acne rosacea (characterized by red patch with telangiectasia on the face with papules and pustules, which are absent in systemic lupus erythematosus (SLE)).
  • Lepromatous leprosy.
  • Post-kala-azar dermal leishmaniasis (PKDL).
 
Depressed Nasal Bridge
Causes are—
  • Trauma.
  • Tuberculosis (TB)(lupus vulgaris).
  • Leprosy.
  • Sarcoidosis.
  • Congenital syphilis (also tertiary).
  • Wegener's granulomatosis.
  • Fungal infection (deep).
  • Idiopathic midline granuloma.
  • Cutaneous leishmaniasis.
 
Puffy Face
Causes are—
  • Nephrotic syndrome.
  • Acute glomerulonephritis (AGN).
  • Myxoedema.
  • SVC obstruction.
  • Acromegaly.
  • Angioneurotic oedema.
  • Cushing's syndrome.4
  • Chronic alcoholism.
  • Severe congestive cardiac failure.
  • Hereditary angio-oedema.
 
Chloasma or Melasma
It is the discrete pigmentation in the face of females, due to imbalance between oestrogen and progesterone. Melanocyte-stimulating hormone is normal. Causes are—
  • Pregnancy.
  • Sunlight exposure.
  • Drugs (oral contraceptive and phenytoin).
  • Others—ovarian tumour (rare).
 
Malar Flush
Causes are—
  • Normal person.
  • Mitral stenosis.
  • Hypothyroidism.
  • Polycythaemia due to any cause.
 
Plethoric Face
Causes are—
  • Normal physiological.
  • Polycythaemia (due to any cause).
  • Cushing's syndrome.
  • Alcoholism.
  • SVC obstruction.
 
Bilateral Parotid Enlargement
Causes are—
  • Sarcoidosis.
  • Alcoholic liver disease or chronic alcoholism.
  • Bilateral mumps (usually it is painful).
  • Sjögren's syndrome.
  • Malnutrition.
  • Diabetes mellitus.
  • Lymphoma.
  • Leukaemia.
  • Mikulicz syndrome.
 
Cachexia or Emaciation
Causes are—
  • Tuberculosis.
  • Diabetes mellitus.
  • Thyrotoxicosis.
  • Malignancy.5
  • Malabsorption.
  • Malnutrition.
  • Anorexia nervosa.
  • Addison's disease.
 
Tall Stature
Causes are—
  • Familial or constitutional.
  • Marfan's syndrome.
  • Homocystinuria.
  • Gigantism.
  • Klinefelter's syndrome.
  • Kallmann's syndrome.
  • Hypogonadism.
  • Thyrotoxicosis before fusion of epiphysis.
 
Short Stature
Causes are—
  • Familial or constitutional.
  • Genetic disease—Turner's syndrome, Down's syndrome, achondroplasia.
  • Endocrine—juvenile hypothyroidism, hypopituitarism.
  • Cardiac—cyanotic congenital heart disease.
  • Alimentary—malabsorption syndrome, cystic fibrosis, Coeliac disease, Crohn's disease.
  • Nutritional—protein energy malnutrition, ricket.
  • Renal—CKD.
 
Large Skull
  • Hydrocephalus in early childhood.
  • Acromegaly.
  • Hereditary haemolytic anaemia (beta thalassemia major).
  • Paget's disease.
  • Achondroplasia.
 
XANTHELASMA
 
Definition
These are yellowish plaque in subcutaneous or intracutaneous tissues around the eyelids due to deposition of cholesterol or lipids.
 
Causes
  • Familial.
  • Primary biliary cirrhosis.
  • Hyperlipidaemia (types II and III).
  • Hypothyroidism.
  • Diabetes mellitus.6
  • Nephrotic syndrome.
  • Alcoholism.
  • Drugs—thiazide diuretic, ciclosporin, steroid, androgen, oral contraceptive pill.
Xanthelasma is associated with corneal arcus, xanthoma in other parts (patella, Achilles’ tendon and dorsum of the hand) and evidence of primary disease.
Diseases associated with hypercholesterolaemia:
  • Tendon xanthoma.
  • Tuberous xanthoma.
  • Xanthelasma.
  • Corneal arcus.
  • Atherosclerosis and ischaemic heart disease (IHD).
Diseases associated with hypertriglyceridaemia:
  • Acute pancreatitis.
  • Lipaemia retinalis.
  • Retinal vein thrombosis
  • Eruptive xanthoma.
NB: Hypertriglyceridaemia alone is not associated with atherosclerosis and IHD.
Diseases associated with mixed hyperlipidaemia: Tuberous, tendon and palmar xanthoma.
 
XANTHOMA
 
Definition
These are deposits of fatty material in the skin, subcutaneous tissue and tendons due to primary or secondary hyperlipidaemia.
 
Types: Four Types
  1. Eruptive xanthoma (multiple, yellow or brown papule on trunk and buttock).
  2. Tendon xanthoma (subcutaneous nodules attached to tendons over dorsum of fingers and Achilles’ tendon).
  3. Tuberous xanthoma (elbow and knee).
  4. Palmar xanthoma.
 
Treatment of Xanthelasma and Xanthoma
General measures
  • If obese—weight reduction, exercise, diet control (avoid cholesterol containing diet, animal fat).
  • Smoking and alcohol should be avoided.
  • Treatment of primary disease.
  • If hyperlipidaemia—lipid lowering drugs.
Lipid lowering drugs are
  • HMG Co-A reductase inhibitors (simvastatin, pravastatin and lovastatin) are used in treating hypercholesterolaemia.7
  • Fibrates (fenofibrate, bezafibrate, gemfibrozil)are used in treating hypertriglyceridaemia.
  • Others—nicotinic acid, probucol and fish oil (omega-3 triglyceride).
NB: Tendon xanthoma may be confused with—
  • Rheumatoid nodule.
  • Tophi of gout.
  • Neurofibroma.
  • Lipoma.8
 
HANDS IN DIFFERENT DISEASES
By looking at the hands, obvious findings may be—
  • Rheumatoid arthritis.
  • Systemic sclerosis.
  • Tophaceous gout.
  • Bouchard's nodes, Heberden's node (in osteoarthritis).
  • Skin rash and Gottron's patch (dermatomyositis).
  • Large hand (acromegaly).
  • Claw hand.
  • Wrist drop.
  • Myotonic dystrophy (diagnosed by handshake or asking the patient to close and open the hands).
  • Raynaud's disease or phenomenon.
  • Polydactyly.
  • Syndactyly.
  • Arachnodactyly.
  • Short 4th metacarpal.
  • Palmar erythema.
  • Nail and nail bed change.
  • Dupuytren's contracture.
  • Carpopedal spasm due to tetany.
  • Trophic change (gangrene, ulceration).
  • Wasting—thenar, hypothenar or generalized.
  • Tremor due to any cause.
  • Palm—warm and sweaty palm (thyrotoxicosis), cold and sweaty palms (anxiety).
  • Single palmar crease (in Down's syndrome).
  • Hyperkeratosis of palm with pigmentation (arsenicosis).
 
Polydactyly
It means presence of extra fingers and toes. Causes are—
  • Congenital.
  • Laurence–Moon–Biedl syndrome.
 
Syndactyly
It means fusion of two fingers. Usually congenital.
 
Arachnodactyly
It means long slender spider leg-like fingers. Causes—
  • Constitutional or congenital.
  • Marfan's syndrome.
  • Homocystinuria.
  • Ehler's-Danlos syndrome.
  • Pseudoxanthoma elasticum.9
 
Causes of Short 4th or 5th Metacarpal
  • Congenital.
  • Pseudohypoparathyroidism.
  • Pseudo-pseudohypoparathyroidism.
  • Turner's syndrome.
 
Wasting of Hand Muscles
  • Thenar wasting—indicates median nerve lesion.
  • Hypothenar and other muscles wasting (except thenar)— indicates ulnar nerve lesion.
  • On the dorsum—wasting with dorsal guttering (interossei) indicates ulnar nerve lesion.
  • Generalized wasting—indicates C8 and T1 lesion.
 
Findings in Hand in Infective Endocarditis
  • Osler's nodes (small painful violaceous raised nodule, 0.5–1.5 cm, present on the tip of the fingers and toes, also palmar aspect, probably due to development of vasculitis or septic emboli).
  • Splinter haemorrhage.
  • Clubbing.
  • Janeway lesion (large painless erythematous macule containing bacteria on palm, pulp of the fingers. It may be found in the sole).
  • Petechial haemorrhage.
  • Infarction on the tip of the fingers.
 
Hands in Chronic Liver Disease
  • Palmar erythema.
  • Dupuytren's contracture.
  • Clubbing.
  • Leuconychia.
  • Flapping tremor.
  • Spider angioma.
  • Pigmentation.
  • Jaundice.
  • Scratch mark.
  • Xanthoma.
  • Cyanosis.
 
CLAW HAND
 
Definition
It is a deformity of hand characterized by flexion of interphalangeal (IP) joints and hyperextension of metacarpophalyngeal joints (MCP) joints.
It is due to weakness of the lumbricals and interossei with unopposed action of long extensors of finger.10
Only LMN lesions of C8 and T1 nerves, C8 and T1 nerve root lesion and brachial plexus lesion will produce localized wasting of lumbricals and interossei causing claw hand.
Combined ulnar and median nerve lesion will produce true claw hand. Ulnar claw hand involves 4th and 5th fingers, because 1st and 2nd lumbricals are supplied by median nerve.
 
Causes of Claw Hand
  • Combined ulnar and median nerve lesion—trauma, leprosy.
  • Brachial plexus lesion (C8 and T1)—cervical rib, thoracic inlet syndrome, Klumke's paralysis.
  • Neurological disease—MND, Charcot–Marie-Tooth disease, syringomyelia, intramedullary tumour and polio.11
 
CLUBBING
 
Definition
In this condition, there is bulbous swelling of the terminal end of fingers and toes, where nail becomes thick and convex. In advanced stage, nail looks drumstick and parrot beak appearance.
 
Causes of Clubbing
  1. Respiratory—
    • Bronchial carcinoma (common in squamous cell type).
    • Suppurative lung disease—bronchiectasis, lung abscess, empyema thoracis.
    • Interstitial lung disease (ILD) or diffuse parenchymal lung disease (DPLD).
    • Cystic fibrosis.
    • Pulmonary TB (in advanced stage with fibrosis).
    • Pleural mesothelioma.
  2. Cardiac—
    • Infective endocarditis.
    • Cyanotic congenital heart disease (e.g. Fallot's tetralogy).
  3. Others—
    • Cirrhosis of liver.
    • Inflammatory bowel disease.
    • Familial.
    • Idiopathic.
NB: Commonest cause is bronchial carcinoma in elderly and bronchiectasis in young.
 
Differential Clubbing
It means clubbing in the toes, but not in the fingers.
Causes are—
  • PDA with reversal shunt (also there is cyanosis in toes, not in finger called differential cyanosis).
  • Infected abdominal aortic aneurysm.
  • Coarctation of abdominal aorta.
 
Causes of Unilateral Clubbing
  • Axillary artery aneurysm.
  • Bronchial arteriovenous aneurysm.
  • Others—aneurysm of ascending aorta, subclavian or innominate artery.
 
Causes of Clubbing in a Single Finger
  • Trauma (commonest cause).
  • Chronic tophaceous gout.
  • Sarcoidosis.12
 
Causes of Clubbing with Cyanosis
  • Fibrosing alveolitis.
  • Cyanotic heart disease (Fallot's tetralogy).
  • Cystic fibrosis.
  • Bilateral extensive bronchiectasis.
 
Investigations in Clubbing
  • Full blood count.
  • Chest X-ray.
  • Ultrasonography of whole abdomen.
  • Echocardiography.
  • Other—according to suspicion of cause (barium enema, follow through, colonoscopy for inflammatory bowel disease, liver function test).
 
Hypertrophic Osteoarthropathy
  • Hypertrophic osteoarthropathy (HOA) is the triad of clubbing, arthritis and subperiosteal new bone formation (periosteal inflammation at the distal ends of long bones in radius, ulna, tibia, fibula, although any bone may be involved).
  • There is swelling and tenderness at the lower ends of forearm and leg.
  • Hypertrophic osteoarthropathy may be primary or secondary to any cause of clubbing.
    Commonest causes are bronchial carcinoma (squamous cell type) and pleural mesothelioma.13
 
KOILONYCHIA
 
Definition
It is a disorder in which nail is concave or spoon shaped.
 
Causes
  1. Iron deficiency anaemia (commonest cause).
  2. Others (rare)—
    • Trauma (rarely in garage mechanics, who regularly fit tyres).
    • Thyrotoxicosis.
    • Fungal infection.
    • Raynaud's disease.
 
Mechanism of Koilonychia
Unknown, probably results from slow growth of nail plate.
 
Stages of Koilonychia
  • Dryness, brittleness and ridging (first stage).
  • Flattening and thinning (second stage).
  • Spooning or concavity (third stage).
 
Plummer-Vinson Syndrome
It is the combination of—
  • Iron deficiency anaemia.
  • Dysphagia (due to postcricoid web secondary to epithelial degeneration).
  • Glossitis.
It is also called Paterson–Brown–Kelly syndrome, common in women. Cause unknown. There is constriction in the upper oesophageal sphincter in the postcricoid region, which appears radiologically as a web. This web may be asymptomatic or may produce dysphagia. It may be difficult to see endoscopically. Rarely, there is increased risk of squamous cell carcinoma.
 
Treatment of Plummer-Vinson Syndrome
  • Iron therapy.
  • If severe anaemia—blood transfusion.
  • Rarely, endoscopic dilatation may be required.
 
LEUCONYCHIA
 
Definition
It means white nail. It may be diffuse, punctate, linear or striate (white transverse flecks—a normal finding). Leuconychia indicates hypoalbuminaemia.
 
Causes
  • Renal—nephrotic syndrome, chronic renal failure.
  • Liver diseases—chronic liver disease (CLD), cirrhosis of liver.14
  • Malnutrition—malabsorption, less intake.
  • May be normal finding.
  • Others - rare (lymphoma, fungal infection, congenital).
 
Investigations
According to the suspicion of cause—
  • Liver function tests.
  • Renal function tests.
  • GIT—endoscopy, colonoscopy, barium follow through.15
 
NAIL CHANGES IN DIFFERENT DISEASES
Nail abnormality may occur in many local, systemic and dermatological diseases. A good visual impression is very essential and a spot diagnosis can be done easily.
Clubbing, koilonychia, leuconychia—Already described.
Pale nail: found in anaemia.
 
Nail Fold Infarction
Causes are (usually vasculitis due to any cause)—
  • SLE.
  • Dermatomyositis.
  • Systemic sclerosis.
  • Rheumatoid arthritis.
  • Polyarteritis nodosa.
 
Splinter Haemorrhage
Bleeding under nail. Causes are—
  • Trauma (commonest).
  • Infective endocarditis.
  • Septicaemia.
  • Vasculitis—SLE, RA and polyarteritis nodosa.
  • Others—haematological malignancy, severe anaemia, psoriasis. Rarely, in trichinosis (usually transverse haemorrhage).
 
Half and Half Nail
Proximal part of nail is white and distal part is brown. Causes are—
  • Chronic renal failure (commonest).
  • Cirrhosis of liver.
  • Occasionally, in normal person.
 
Nail Fold Telangiectasia
New vessels at the base of nail. Causes are—
  • SLE.
  • Systemic sclerosis.
  • Dermatomyositis.
  • Mixed connective tissue disease (MCTD).
  • Raynaud's phenomenon.
 
Beau's Line
Nonpigmented transverse line or groove in nail due to transient arrest of nail growth, few weeks after acute illness. Causes are—
  • Chronic illness (chronic infection, malignancy, collagen disease).
  • Prolonged fever.
  • Pneumonia.16
  • Coronary artery disease.
  • Others—cachexia, malnutrition, psychiatric illness, cytotoxic drugs.
 
Onycholysis
Separation of distal nail plate from the nail bed (free edge looks white). Causes are—
  • Psoriasis (commonest).
  • Fungal infection.
  • Thyrotoxicosis (Plummer's sign).
  • Idiopathic.
  • Occasionally drugs (tetracycline, psoralen).
  • Porphyria.
  • Trauma or faulty manicure.
 
Mees’ Line
Single transverse white band in nail. Causes are—
  • Chronic arsenic poisoning.
  • CRF.
  • Also, after chemotherapy and severe illness.
 
Yellow Nail
Found in yellow nail syndrome, an inherited disease in which the nails are thick, yellow or pigmented with separation of distal part of nail bed due to hypoplasia of lymphatic system. Yellow nail syndrome is associated with lymphoedema of legs, bronchiectasis and pleural effusion.
 
Loss of Nail (or Dystrophy)
Causes are—
  • Severe lichen planus.
  • Epidermolysis bullosa.
  • Trauma (tooth biting).
 
Nail Pitting (Depression in Nail)
Causes are—
  • Psoriasis.
  • Alopecia areata.
  • Atopic eczema (when involves proximal nail bed).
  • Pityriasis rosacea.
 
Brittle Nail (Easily Broken)
Causes are—
  • Iron deficiency anaemia.
  • Peripheral vascular disease.
  • Fungal infection.
  • Hypocalcaemia.
  • Psoriasis.
  • Injury (nail biting).
  • Idiopathic.17
 
Blue Nail
Normal white lunulae become blue, found in Wilson's disease due to deposition of copper. Also found in cyanosis and ochronosis.
 
Red Nail
May be normal finding. Also in polycythaemia, carbon monoxide poisoning (cherry red).
 
Brown Nail
Usually present in CKD.
 
Periungual or Subungual Fibroma
Found in tuberous sclerosis (epiloia).
 
Fungal Nail
Nail is white, green, black, thick with discolouration and crust formation.
 
Absent or Small, Dysplastic Nail
Causes are—
  • Nail patella syndrome (AD, associated with no or hypoplastic patella and glomerulonephritis, abnormalities in eye).
  • Others—congenital, traumatic and vasculitis.
 
Nail Hyperpigmentation
May occur due to some drugs (such as zidovudine, doxorubicin, bleomycin, cyclophosphamide, 5-fluorouracil, melphalan and nitrosoureas).
 
Terry's Nail
Proximal part is white or pink but nail tip is red or brown. Causes are—
  • Old age (normally present in elderly).
  • Cirrhosis of liver.
  • Congestive cardiac failure.
  • Hyperthyroidism.
  • Malnutrition.
  • Renal failure.
 
Dark Nail
May be a normal finding, mostly in black people. Sometimes may be due to subungual melanoma.18
 
CYANOSIS
 
Definition
It is the bluish discolouration of the skin and mucous membrane due to increased amount of deoxygenated haemoglobin in blood. Cyanosis is not seen until the amount of deoxygenated haemoglobin is >5 g/dl.
  • In severe anaemia, haemoglobin is low and fully saturated. So, there is no cyanosis.
  • Tongue is always warm, so it is not involved in peripheral cyanosis.
 
Types of Cyanosis: 2 Types
Two types of cyanosis are discussed below and differentiated in Table 1.
Peripheral cyanosis: Due to localized reduction of blood flow on exposure to cold causing capillary vasoconstriction (lip is blue in cold weather). Also, occurs in reduced cardiac output (heart failure or shock). Tongue is spared in peripheral cyanosis. Causes of peripheral cyanosis—
  • Exposure to cold.
  • Raynaud's phenomenon.
  • Heart failure.
Central cyanosis: Either due to imperfect oxygenation of blood in lung or admixture of venous and arterial blood. It is seen when O2 saturation falls below 80–85%. Best site is tongue.
Causes of central cyanosis:
  1. Respiratory—There is defect in oxygenation of blood in the lungs—
    • Chronic obstructive pulmonary disease (COPD).
    • Severe pneumonia.
    • Acute severe bronchial asthma.
    • Massive pulmonary embolism.
    • Pulmonary infarction.
    • Diffuse parenchymal lung disease (DPLD).
      Table 1   Differences between central and peripheral cyanosis
      Points
      Central cyanosis
      Peripheral cyanosis
      Mechanism
      Imperfect oxygenation of blood in lung or admixture of venous and arterial blood in heart disease
      Local vasoconstriction or reduction of arterial flow
      Area involved
      Generalized
      Localized
      Affected part
      Warm
      Cold
      Application of warmth
      Does not disappear
      Disappears
      Oxygen
      Cyanosis may disappear in pulmonary case (except in right-to-left shunt)
      Disappears
      Tongue
      Always involved
      Never involved
      19
  2. Cardiac—
    • Cyanotic congenital heart disease—Fallot's tetralogy, transposition of great vessels.
    • Shunt anomaly (right-to-left shunt called Eisenmenger syndrome due to ASD, VSD, PDA).
    • Heart failure.
    • Cardiogenic shock.
  3. Others—
    • High altitude (physiological).
    • Polycythaemia.20
 
FEVER
 
Definition
Rise of body temperature above the normal range.
Normal body temperature is 36.8°C (mouth), 36.4°C (axilla), 37.3°C (rectum). A morning temperature >37.3°C in mouth or 37.7°C in rectum is considered as fever.
 
Hyperpyrexia
Temperature above 41.1°C is called hyperthermia or hyperpyrexia. Causes are—
  • Severe infection (septicaemia, bacteraemia).
  • Pontine haemorrhage.
  • Heat stroke.
  • Malignant hyperthermia.
  • Neuroleptic malignant syndrome.
  • Thyroid crisis.
  • Lobar pneumonia.
  • Datura poisoning.
Hyperpyrexia is a serious condition. May cause brain damage, multiorgan failure, rhabdomyolysis, renal failure.
 
Treatment of Hyperpyrexia
  • Removal of clothing.
  • Sponging with tepid water.
  • Fanning.
  • Antipyretic—paracetamol (oral or suppository).
 
Hypothermia
It means temperature less than 35°C (or 95°F). Causes are—
  • Exposure to cold.
  • Drug—high dose antipyretic, opium poisoning, ethanol, phenol thiazine, benzodiazepine.
  • Shock.
  • Hypothyroidism (myxoedema coma).
  • Adrenal insufficiency.
  • Hypoglycaemia.
  • Prolonged postoperative period.
  • Infusion of refrigerated blood products without rewarming.
 
Treatment of Hypothermia
  • Covering the body.
  • Rewarming.
  • IV fluid.
  • Treatment of primary cause.21
 
Types of Fever
  • Usually 3 types—intermittent, remittent and continued.
  • Other types—hyperpyrexia, hectic, Pel-Ebstein fever.
 
Intermittent
Fever that persists for several hours in a day and always touches the baseline between attack is called intermittent fever. It is of 3 types—
  • Quotidian—characterized by paroxysm of fever that occurs daily (daily rise and fall). This type of fever may be found in kala-azar.
  • Tertian—characterized by paroxysm of fever that occurs on alternate days. Found in benign tertian malaria (due to Plasmodium vivax, rarely P. ovale).
  • Quartan—characterized by paroxysm of fever that occurs in two days interval between consecutive attacks. This is found in quartan malaria due to Plasmodium malariae (rare).
 
Remittent
If the fluctuation of fever is > 2°C (3°F), but does not touch the baseline, it is called remittent. Found in pyogenic infection (pyogenic liver abscess, acute bronchopneumonia, acute tonsillitis, septicaemia, acute pyelonephritis), miliary TB, lymphoma.
 
Continued
If the fluctuation of fever is not > 1°C (1.5°F) and does not touch the baseline, it is called continued fever. Found in typhoid, typhus, miliary TB, meningococcal meningitis, rheumatic fever, drug fever.
 
Pel–Ebstein Fever
Recurrent bouts of pyrexia followed by apyrexial period is called Pel–Ebstein fever. It is found in Hodgkin's disease (in 10% cases). This type of fever may be found in brucellosis (called undulant fever).
Drugs causing fever: Many drugs can cause drug fever. Common drugs are—
  • MAO inhibitor.
  • Tricyclic antidepressant.
  • Alphamethyldopa.
  • Betalactam antibiotics.
  • Salicylate poisoning.
  • LSD.
  • Ecstacy.
  • Procainamide.
  • Anticonvulsant.
  • Sulphonamide.
  • Neuroleptic malignant syndrome may be caused by phenothiazine, butyrophenon, etc.
 
Saddleback Fever
Fever that persists for few days, then no fever for one or two days, followed by reappearance of fever. It occurs in dengue fever, Colorado tick fever, borreliosis, leptospira, yellow fever and influenza.22
 
Hectic Fever
It means sudden rise of very high temperature usually associated with chill and rigor, persist for few hours and then fall with profuse sweating. This may be found in pus in anywhere in the body, e.g. lung abscess, pyogenic liver abscess, empyema thoracis, subphrenic abscess, empyema of gallbladder, perinephric abscess. Sometimes in septicaemia or pyaemia.
 
Aseptic (noninfectious) Fever
It means the fever without infection. May be found in SLE, lymphoma, leukaemia, malignancy (such as hepatoma, renal cell carcinoma), pontine haemorrhage, drug fever, early stage of acute myocardial infarction, heat stroke, thyrotoxic crisis, acute gout, excessive use of atropine injection (in OPC poisoning).
 
Factitious Fever
Sometimes patient purposefully show false rise of temperature. Usually found in young woman, sometimes due to deliberate intake of thyroxine.
 
Temperature Fall by Crisis and Lysis
  • When temperature subsides quickly to subnormal level, it is called fall by crisis. Causes are lobar pneumonia, septicaemic shock, enteric fever associated with perforation or bleeding.
  • When temperature falls gradually over several days, it is called fall by lysis. Causes are enteric fever, rheumatic fever, acute bronchopneumonia.
 
Pattern of Fever in Different Diseases
  • Low grade fever with evening rise—TB.
  • Fever with chill and rigor—acute pyelonephritis, acute cholangitis, infective endocarditis, subphrenic abscess, pyogenic lung abscess, septicaemia, lobar pneumonia, pyrogenic reaction after infusion or transfusion.
  • Fever with chill and rigor that subsides with sweating— malaria.
  • Fever with unconsciousness—cerebral malaria, meningitis, encephalitis, pontine haemorrhage.
  • Fever with neck rigidity—meningitis, encephalitis.
  • Fever with drenching night sweat—lymphoma, TB.
  • Feverish with excessive sweating—thyrotoxicosis.
  • Pel–Ebstein fever (undulant fever)—Hodgkin's lymphoma.
  • Fever with double rise (or triple rise)—Kala-azar.
  • Step ladder pattern of fever—enteric fever.
  • Relapsing fever—malaria, borreliosis, occasionally lymphoma (HD).
  • Fever with myalgia—viral infection (e.g. like influenza, dengue).
 
Causes of Fever with Skin Rash with Days
Remember: “Very Sick Person Must Take Double Eggs.”
  • 1st day – Varicella (chickenpox).
  • 2nd day – Scarlet fever.
  • 3rd day – Pox (smallpox).
  • 4th day – Measles, german measles (rubella).23
  • 5th day – Typhus.
  • 6th day – Dengue.
  • 7th day – Enteric fever (rose spot).
  • Drug rash may appear anytime.
 
Other Causes of Skin Rash with Fever
  • Still's disease.
  • Erythema nodosum.
  • Erythema multiforme.
  • Toxic shock syndrome.
  • Staphylococcal scalded skin syndrome.
  • Sweet's syndrome.
  • Anthrax.
 
Fever with Relative Bradycardia
Normally, if temperature rises 1°F, pulse rate increases 10 beats. If rise of pulse rate is less than that, it is called relative bradycardia. Causes are—
  • Viral fever.
  • First week of enteric fever.
  • Brucellosis.
  • Psittacosis.
  • Weil's disease.
 
Fever with Relative Tachycardia
If rise in pulse rate is more than that, it is called relative tachycardia. Causes are—
  • Acute rheumatic carditis.
  • Diphtheric myocarditis.
  • Severe TB.
  • Polyarteritis nodosa.
 
Other Points in Fever
  • High temperature with pink maculopapular skin rash, which disappears with the fall of temperature is found in Still's disease (this rash is called Salmon rash).
  • Hyperpyrexia and rigidity of the body in patient who is taking antipsychotic drug is suggestive of neuroleptic malignant syndrome.24
 
NEUROLEPTIC MALIGNANT SYNDROME
 
Definition
Unexplained high fever in a psychiatric patient who is on antipsychotic drug is called neuroleptic malignant syndrome. It is rare, but serious complication of any neuroleptic drug therapy, such as phenothiazine, butyrophenones (commonly haloperidol), irrespective of dose. It occurs in 0.2% of cases, usually after days or weeks of neuroleptic drug therapy.
It is characterized by high fever, stiffness or rigidity of the body, fluctuating consciousness, autonomic dysfunction (tachycardia, labile BP, pallor).
There may be leucocytosis and abnormal liver function tests. High CPK (due to myonecrosis) is highly suggestive of the diagnosis. Sometimes, metabolic acidosis, respiratory failure, cardiac failure, rhabdomyolysis and even renal failure may occur.
Mortality is 20% in untreated cases and 5% in treated cases.
 
Treatment
  • Offending drug should be stopped.
  • Measures to reduce the temperature—tepid sponging, fanning or air-conditioning, antipyretic (oral or suppository).
  • Dopamine receptor agonist—bromocriptine 2.5–7.5 mg orally.
  • Antispastic agent—dantrolene IV may be helpful.
  • Supportive therapy (hydration).
 
MALIGNANT HYPERTHERMIA
 
Definition
It is a rare disorder, develops 30 minutes to several hours after inhalational anaesthesia or to succinylcholine.
It is characterized by high temperature, muscle rigidity, rhabdomyolysis, hypotension and electrolytes abnormality.
 
Treatment
  • Aggressive cooling.
  • Dantrolene 2–5 mg/kg should be given IV.25
 
PYREXIA OF UNKNOWN ORIGIN
 
Definiton
Pyrexia of unknown origin (PUO) is defined as fever higher than 38.3°C (101°F) persisting for more than three weeks despite initial investigation during 3 days of inpatient care or after more than two outpatient visits.
 
Causes
 
Infections
  • Tuberculosis (commonest cause).
  • Abscess (amoebic or pyogenic liver abscess, subphrenic or at any site).
  • Infective endocarditis.
  • Urinary tract infection, especially prostatitis.
  • Dental infection.
  • Sinusitis.
  • Cholecystitis or cholangitis.
  • Bone and joint infections.
  • Malaria, brucellosis, toxoplasmosis
  • Viral infections (cytomegalovirus (CMV), HIV).
  • Fungal infections.
 
Connective Tissue Disorders
  • Systemic lupus erythematosus, rheumatoid arthritis, polymyositis.
 
Malignancy
  • Lymphoma.
  • Myeloma.
  • Leukaemia.
  • Carcinoma of kidney, liver, colon, stomach, pancreas.
 
Vasculitis
  • Giant cell arteritis.
  • Vasculitic disorders, e.g. PAN and rheumatoid disease with vasculitis.
 
Miscellaneous
  • Polymyalgia rheumatica.
  • Adult Still's disease.
  • Drug fever.
  • Atrial myxoma.
  • Thyrotoxicosis.
  • IBD.
  • Liver disease (cirrhosis and granulomatous hepatitis).
  • Sarcoidosis.
  • Familial Mediterranean fever.
  • Factitious fever.26
 
Undiagnosed
In 5% cases, diagnosis may not be possible even after postmortem examination.
 
History to be Taken in PUO
  1. For TB—low-grade fever with evening rise, weight loss, night sweat, H/O of contact with TB patient.
  2. For other infections—
    • Cough, fever, sputum, chest pain.
    • Diarrhoea, abdominal pain.
    • Dysuria, frequency, urgency, burning micturition.
    • Place of residence and overseas travel (malaria, kala-azar, amoebiasis).
    • History of sexual exposure (HIV, venereal disease, PID).
    • Contact with domestic or wild animals (psittacosis, brucellosis, Q-fever, leptospirosis).
  3. For collagen diseases—
    • Skin rash.
    • Mouth ulcer.
    • Joint pain.
    • Alopecia.
  4. Unilateral headache, arthralgia, myalgia (giant cell arteritis, polymyalgia rheumatica).
  5. Occupation (farming, veterinary surgeon, etc.).
  6. Drug history to exclude drug fever.
  7. History of any intervention, e.g. catheterization, A-V fistula, prosthetic valve, colonoscopy.
 
Physical Findings in PUO
  • Pattern of temperature.
  • In skin—rash, erythema nodosum, erythema multiforme, vasculitic rash.
  • Hand—stigmata of infective endocarditis, rheumatoid arthritis, dermatomyositis, clubbing, puncture marks (I/V drug abuse, HIV, HBV, etc.).
  • Lymph node—epitrochlear, axillary, cervical, inguinal.
  • Eye—iritis, conjunctivitis to exclude seronegative arthritis, collagen disease, sarcoidosis.
  • Face—butterfly rash to exclude SLE, heliotrope rash for dermatomyositis, lupus pernio and bilateral parotid enlargement for sarcoidosis.
  • Mouth—ulcer, gum disease, teeth, tonsil.
  • Thyroid gland to exclude subacute thyroiditis.
  • Chest—bony tenderness, murmur (SBE, myxoma), prosthetic valve.
  • Abdomen—tenderness over the liver (liver abscess, sub-diaphragmatic abscess), spleen, per rectal examination to exclude prostatic abscess, carcinoma prostate.
  • Nervous system—look for signs of meningism, focal neurological signs.
  • Fundus—Roth's spot (SBE), retinal haemorrhage or infarction (leukaemia).
 
Investigations
  • CBC with ESR, PBF,
  • Malarial parasite (MP).
  • Blood culture.27
  • Blood sugar (to exclude DM).
  • Urine R/E and culture.
  • Chest X-ray P/A view.
  • MT.
  • USG of whole abdomen.
  • If a lymph node or a palpable mass is found- FNAC and/ or biopsy.
  • Serum ferritin (high in adult Still's disease).
  • Echocardiography.
  • Autoimmune screen - ANA, ENA, anti ds-DNA, CRP, rheumatoid factor, c-ANCA, p-ANCA.
  • HIV screen.
  • Bone marrow examination.
  • Renal function test.
  • Liver function test.
  • Other investigation according to suspicion of cause—CT scan, MRI, PET scan, bronchoscopy, colonoscopy.
 
Treatment
According to the cause.
 
Causes of Absent Radial Pulse:
  • Anatomical aberration (may be congenital)
  • Atherosclerosis
  • Coarctation of aorta (before origin of the left subclavian artery).
  • Takayasu's arteritis
  • Iatrogenic—Blalock Taussig shunt (done in TOF), A-V fistula for haemodialysis
  • Occlusion by thrombosis
  • Occlusion of subclavian artery by cervical rib or neoplasm
  • Dissecting aneurysm.28
 
GENERALIZED LYMPHADENOPATHY
 
Definition
Usually three or more areas of lymph node involvement, such as cervical, axillary, inguinal, abdominal, etc.
 
Causes
  1. Hematological malignancy—
    • Lymphoma.
    • Acute lymphoblastic leukaemia (ALL).
    • Chronic lymphocytic leukaemia (CLL).
  2. Viral—
    • Infectious mononucleosis.
    • Cytomegalovirus infection.
    • HIV.
  3. Collagen disease—SLE
  4. Others—
    • Disseminated tuberculosis.
    • Sarcoidosis.
    • Brucellosis.
    • Toxoplasmosis.
    • Secondary syphilis.
  5. Drugs—phenytoin or diphenylhydantoin (called pseudolymphoma).
 
Causes of Lymphadenopathy with Splenomegaly (and/or hepatomegaly)
  • Lymphoma.
  • ALL.
  • CLL.
  • Infectious mononucleosis.
  • SLE.
  • Kala-azar—mainly African and Chinese kala-azar.
  • Others—sarcoidosis, brucellosis and toxoplasmosis, HIV.
 
Causes of Generalized Lymphadenopathy with Fever
  • Lymphoma.
  • ALL.
  • CLL.
  • Viral infections (e.g. infectious mononucleosis, CMV infection).
  • Disseminated TB.
  • Brucellosis.
  • Sarcoidosis.
  • Toxoplasmosis.29
 
Investigations in Generalized Lymphadenopathy
  1. CBC, ESR and PBF (to exclude leukaemia, increased eosinophil in Hodgkin's lymphoma, atypical lymphocyte in infectious mononucleosis, high ESR in TB).
  2. Chest X-ray (to see TB, bilateral hilar lymphadenopathy in sarcoidosis, lymphoma, lymphatic leukaemia).
  3. USG or CT scan of abdomen (to see hepatomegaly, splenomegaly, para-aortic and other lymphadenopathy).
  4. Other investigations—according to the suspicion of cause—
    • If lymphoma is suspected—FNAC or biopsy of lymph nodes (biopsy is preferable).
    • If leukaemia is suspected—Bone marrow study.
    • If disseminated tuberculosis—MT, lymph node FNAC or biopsy.
    • If HIV is suspected—HIV screening test.
    • If SLE is suspected—ANA, anti-ds DNA.
      NB: Following points are important—
    • Normal LN may be palpable in axilla, groin, usually up to 0.5 cm, which are soft, rubbery. Submandibular LN < 1 cm is normal in children and inguinal LN < 2 cm is normal in adult.
    • Reactive LN expand rapidly and may be painful.
    • Localized lymphadenopathy means single anatomical area of LN involvement.
    • Generalized lymphadenopathy means three or more anatomical noncontiguous areas of LN involvement.
    • Enlargement of supraclavicular and scalene LN are always pathological.
 
CERVICAL LYMPHADENOPATHY
 
Causes
According to the characteristics of lymph nodes, causes are—
 
If Matted Cervical Lymphadenopathy
  • Tuberculous lymphadenitis (commonest).
  • Infection by atypical mycobacteria.
  • Actinomycosis.
 
If Lymphadenopathy with Sinus
  • Tuberculous lymphadenitis.
  • Actinomycosis.
 
If Lymphadenopathy with Biopsy Marking
  • Tuberculosis.
  • Lymphoma.
  • Secondaries.
 
If Hard Lymphadenopathy
  • Metastatic malignancy (e.g. from bronchial carcinoma).30
 
If Tender Lymphadenopathy
  • Acute inflammation (may be secondary to dental sepsis, tonsillitis and mastoiditis).
  • Infection of LN itself.
 
If Lymphadenopathy is Discrete
  • Lymphoma.
  • Infectious mononucleosis.
  • Reactive hyperplasia.
 
If Lymphadenopathy with Goitre
  • Papillary carcinoma of thyroid with metastasis.
 
If Lymphadenopathy is Soft, Fleshy, Rubbery and Discrete
  • Lymphoma
 
If Lymphadenopathy is Immobile, Fixed to Skin
  • Metastatic malignancy.
 
Investigations in Tuberculous Lymphadenitis
  • CBC and ESR (high).
  • Chest X-ray PA view (to see TB in chest).
  • Tuberculin test.
  • For confirmation—FNAC or biopsy (shows casseating granuloma).
 
Treatment of Tuberculous Lymphadenitis
  • Standard anti-Koch's therapy for 9 months to 1 year.
  • Prednisolone may be added.
NB With anti-TB drug therapy, lymph nodes may be enlarged. It is due to hypersensitivity reaction to tuberculoprotein released from dead mycobacteria.31
 
OEDEMA
 
Definition
It may be defined as excessive accumulation of fluid in the interstitial space. It may be pitting and nonpitting.
 
Causes of Pitting Oedema
  • CCF.
  • Nephrotic syndrome
  • Hypoproteinaemia due to any other cause (protein loosing enteropathy or less protein intake).
  • Deep venous thrombosis.
  • Compression of large veins by tumour or lymph nodes.
  • Chronic venous insufficiency (varicose vein).
  • Drugs—calcium channel blockers (e.g. nifedipine, amlodipine), some NSAIDs (e.g. etoricoxib).
  • Idiopathic (called ‘fluid retention syndrome’, common in women).
 
Causes of Nonpitting Oedema
  • Myxoedema.
  • Chronic lymphatic obstruction or lymphoedema due to any cause (see below).
 
Causes of Unilateral Leg Oedema
  • Lymphoedema.
  • DVT.
  • Cellulitis.
  • Ruptured Baker's cyst.
  • Chronic venous insufficiency.
 
Causes of Bilateral Leg Odema
  • CCF.
  • Hypoproteinaemia due to any cause.
  • Cirrhosis of liver in advanced stage.
  • Myxoedema.
  • Drugs—calcium channel blocker (nifedipine, amlodipine), some NSAIDs (e.g. etoricoxib).
  • Lymphoedema.
  • Fluid retention syndrome.
 
Causes of Lymphoedema
  1. Primary—
    • Secondary to agenesis or hypoplasia.
    • Hereditary (Milroy's disease).
    • Associated with Turner's syndrome, Noonan's syndrome and yellow nail syndrome.
  2. Secondary—
    • Recurrent lymphangitis or cellulitis.
    • Filariasis.32
    • Trauma.
    • Tuberculosis.
    • Neoplasm.
    • Surgery (in the arm, it may be due to mastectomy).
    • Radiation.
    • Burn.
 
Causes of Periorbital oedema
  • Nephrotic syndrome.
  • AGN.
  • Myxoedema.
  • Angioneurotic oedema.
  • Surgical emphysema.
  • Orbital cellulitis.
  • Malignant exophthalmos (in Graves’ disease).
  • Dermatomyositis.
 
Investigation in Generalized Oedema: According to the Cause
  • Nephrotic syndrome—Urine R/E, blood for total protein, 24-hour urinary protein.
  • CCF—chest X-ray, ECG, echocardiogram.
  • Cirrhosis of liver—LFT (total protein, A:G ratio, prothrombin time, ultrasonogram).
  • Hypoproteinaemia—serum total protein, other investigations according to the history to find out cause.
  • Hypothyroidism—FT3, FT4, TSH.
 
Characteristics of Oedema in Different Diseases
  • Nephrotic syndrome—oedema is generalized. It starts in face and then involves whole body. May be ascites, bilateral pleural effusion, pericardial effusion due to hypoalbuminaemia.
  • Congestive cardiac failure—oedema starts in leg (dependent oedema). In severe advanced case, there may be ascites, swelling of face.
  • Cirrhosis of liver—first there is ascites, then may be oedema in leg.
  • Malnutrition or hypoproteinaemia—oedema of the feet and face, later may be ascites or even generalized.33
 
PIGMENTATION
Pigmentation may be generalized or localized.
 
Causes
 
Physiological
  • Familial.
  • Racial.
  • Pregnancy.
  • Sun bath.
 
Pathological
  1. Infections—kala-azar (visceral leishmaniasis).
  2. Endocrine causes—
    • Addison's disease.
    • Nelson's syndrome (in bilateral adrenalectomy).
    • Ectopic ACTH syndrome.
    • Acromegaly.
  1. Liver disease—
    • Haemochromatosis (greenish or bronze).
    • Cirrhosis of liver (common in primary biliary cirrhosis).
  2. GIT—malabsorption syndrome (Whipple's disease, Peutz–Jeghers syndrome).
  3. Chronic debilitating illness—
    • Internal malignancy (commonly ectopic ACTH syndrome).
    • CKD.
    • Any chronic illness.
  4. Drugs—
    • Busulphan.
    • Bleomycin.
    • Amiodarone (violaceous or brown or blue or slaty grey, in exposed parts).
    • Phenothiazine (slaty grey).
    • Phenytoin (melasmalike pigmentation).
    • Oral contraceptive pill.
    • Chloroquine (blue grey).
    • Clofazimine (red or pinkish).
    • Psoralen (brown).
    • Minocycline.
    • Other cytotoxic drugs.
  5. Others—
    • Chronic arsenic poisoning.
    • Pellagra (necklace area and exposed part).
    • Systemic sclerosis.
    • Ochronosis (mainly in the joint, nose, ear and face).
    • Argyria (slaty grey hue due to silver deposition).
    • Porphyria cutaneatarda.
    • Acanthosisnigricans.34
 
Evaluation of Pigmentation
By history, clinical examination and investigations.
  1. History of fever (e.g. kala-azar).
  2. History of drugs.
  3. History suggestive of chronic disease (e.g. CLD, CKD) and Addison's disease or other diseases.
  4. Physical examinations—
    • BP (low in Addison's disease).
    • Hepatosplenomegaly (kala-azar).
    • Signs of CLD or haemochromatosis or PBC.
    • Abdomen (scar of bilateral adrenalectomy in Nelson's syndrome).
    • Evidence of other chronic illness.
  5. Laboratory investigations—according to the history and suspicion of causes (kala-azar, Addison's disease and haemochromatosis).35
 
HIRSUTISM
 
Definition
It is the male pattern of hair growth in women due to excess of androgen.
 
Sites
Hair growth involves chin, moustache. Also in breast, chest, axilla, abdominal midline, pubic and thigh area.
 
Causes
  • Hirsutism without virilization.
  • Hirsutism with virilization.
 
Hirsutism without Virilization
  • Idiopathic (commonest cause).
  • Familial.
  • Drugs—steroid, phenytoin, ciclosporin, androgen, minoxidil, progesterone.
  • Others—PCOS (in mild cases, hirsutism is more and virilisation is less), acromegaly and porphyria cutaneatarda.
 
Hirsutism with Virilization
  • Ovarian causes—PCOS (severe case), androgen-secreting ovarian tumour, arrhenoblastoma.
  • Adrenal causes—late onset congenital adrenal hyperplasia, Cushing's syndrome, adrenal carcinoma or androgen secreting adrenal tumour.
Signs of virilization:
  • Frontal baldness.
  • Male body habitus.
  • Deepening of voice.
  • Others—clitoromegaly, atrophy of breast, male pattern of pubic hair, acne, greasy skin.
 
Evaluation and Investigations
  • History.
  • Drug history.
  • Family history.
  • Blood for testosterone, LH, FSH and prolactin. If testosterone is high (twice the normal), low LH and FSH, it is likely to be idiopathic hirsutism rather than PCOS.
After exclusion of these, causes may be in ovarian or adrenal. Then USG of abdomen should be done to see ovarian or adrenal abnormality.
  1. If ovarian origin, following tests should be done—
    • LH and FSH—if LH is high and FSH is normal or high (ratio of LH:FSH is 2 or 3)—it is likely to be PCOS.
    • Sex hormone binding globulin (SHBG)—high.
    • Androgens—high, but testosterone is normal or low.
    • Other tests—CT scan, MRI and laparoscopy may be done.36
  2. If adrenal origin, following tests should be done—
    • If adrenal carcinoma or adenoma—urinary 17- ketosteroid is high.
    • Dexamethasone suppression test may be done—shows failure of suppression.
    • In congenital adrenal hyperplasia—serum 17- hydroxyprogesterone is high, also high pregnanetriol and ACTH.
    • Other tests—CT scan, MRI and laparoscopy may be done.
      NB: A good history regarding hirsutism is essential—
    • If the onset is shortly after menarche, tumour is unlikely.
    • If it occurs in childhood, more chance of underlying disease.
    • If menstruation is regular, more likely to be constitutional rather than tumour or other pathology.
    • Greater the menstrual abnormality (irregular or cessation), more likely there is a serious disease (ovarian or adrenal).
    • Rapid onset, prepubertal or late-onset is suggestive of underlying disease (ovarian or adrenal).
    • Increased libido and signs of virilization indicates increased androgen.
 
Treatment of Hirsutism
  1. Treatment of primary cause. If due to drug, it should be stopped.
  2. Local therapy—
    • Plucking, bleaching, depilatory cream, shaving, electrolysis, epilation.
    • Topical eflornithine cream applied locally for 6 months.
  3. Systemic therapy (in severe cases)—
    • Cyproterone acetate (antiandrogen), 50–100 mg daily for 1–14 days of each cycle. In women of child bearing age, contraception is essential.
  • Oestrogen (in oral contraceptive) is helpful in idiopathic or PCOS. It reduces free androgens by increasing SHBG, when it is low.
  • Other antiandrogens—spironolactone, flutamide, fenesteride are also helpful.
 
HYPERTRICHOSIS
 
Definition
It is the generalized excess hair growth in any sex which is nonandrogenic in origin. Causes are—
  • Familial.
  • Sexual precocity.
  • Hypothyroidism.
  • Adrenal hyperplasia or neoplasm.
  • Virilising ovarian tumour.
  • Drugs—minoxidil, ciclosporin, androgen.
Causes of decreased body hair:
  • Cirrhosis of liver.
  • Klinefelter's syndrome.
  • Hypopituitarism.
  • Bilateral testicular atrophy due to any cause (e.g. leprosy).37
 
GYNAECOMASTIA
 
Definition
Enlargement of male breast due to proliferation of glandular components.
It is due to disturbance of normal ratio of active androgen to oestrogen in plasma or breast (normal ratio of testosterone:oestrogen is 100:1 and normal ratio of these in blood is 300:1).
Imbalance occurs either due to less testosterone production or action or increased oestrogen synthesis or both.
 
Causes
 
Physiological
  • Pubertal, may be unilateral due to transient increase in oestradiol level. Resolves spontaneously in 6–18 months.
  • Senile, due to increased conversion of oestrogen from androgen (also less Leydig cell in testis).
  • Newborn (due to transplacental transfer of maternal oestrogen).
 
Pathological
  1. Chronic liver disease (common in alcoholic liver disease), HCC (hCG secreting).
  2. Bronchial carcinoma (5% case, hCG-secreting).
  3. Hypogonadism—
    • Primary testicular disease (testicular tumour, teratoma, Leydig cell tumour).
    • Testicular failure (trauma, orchidectomy, radiation, leprosy, TB, mumps orchitis, haemochromatosis, Klinefelter's syndrome).
    • Secondary testicular failure (hypopituitarism, hyperprolactinaemia, Kallman's syndrome).
  4. Endocrine disease (acromegaly, thyrotoxicosis, hypothyroidism, adrenal carcinoma, Addison's disease).
  5. Drugs—spironolactone, digoxin, INH, oestrogen therapy for prostate carcinoma, alcohol, alkylating agent, methyldopa, marijuana, amiodarone.
  6. Chromosomal abnormalities—Klinefelter's syndrome, Kallman's syndrome.
  7. Others—testicular feminisation syndrome, starvation, idiopathic.
 
Difference between Gynaecomastia from Lipomastia
  • Lipomastia is due to deposition of fat in the breast. So it is soft.
  • Gynaecomastia is the enlargement of male breast due to glandular tissue proliferation. So it is firm, hard or rubbery.
NB: Following points are important—
  • Unilateral gynaecomastia in the elderly is highly suspicious of malignancy (hard, fixed to underlying tissue, associated with skin tethering and nipple discharge).
  • Carcinoma of breast is 16 times common in Klinefelter's syndrome.
 
Causes of Painful Gynaecomastia
  • Puberty.
  • Drugs—spironolactone.
  • Chronic liver disease.38
 
Mechanism of Gynaecomastia in CLD
  • Excess oestrogen due to increased conversion from androgens and altered oestrogen metabolism by liver.
  • Drug (spironolactone therapy for ascites).
 
Mechanism of Gynaecomastia in Alcoholism
  • By causing CLD.
  • By damaging Leydig cells of testis without CLD.
 
Investigations in Gynaecomastia
If the patient is young, it may be due to puberty. No need of further investigation. Other investigations according to suspicion of cause—
  1. History of drug intake.
  2. Chest x-ray (to exclude bronchial carcinoma).
  3. Liver function tests (in CLD).
  4. Endocrine evaluation—
    • In hypogonadism—serum testosterone, LH, FSH, oestradiol, prolactin and HCG.
    • If LH and FSH are high, but testosterone is low—cause is primary testicular failure.
    • If both LH and testosterone are low—cause is increased oestrogen production from tumour of testis.
    • If both LH and testosterone are high—cause is androgen resistant state or gonadotrophin secreting tumour.
    • 24 hours urinary 17-ketosteroid or serum androstenedione should be done.
    • If plasma β-HCG is high—indicates testicular tumour. It is also increased in bronchial carcinoma.
  5. Chromosomal analysis in Klinefelter's syndrome.
 
Treatment
  • Explanation and reassurance, especially in younger age. Usually improve or disappears spontaneously.
  • Treatment of primary cause. If any offending drug is responsible, it should be stopped.
  • If severe and progressive or suspicion of malignancy— mastectomy.
 
HYPERHYDROSIS
 
Definition
It is defined as excessive sweating.
 
Causes
  • Exposure to hot environment.
  • Exercise.
  • Anxiety.
  • Any pyogenic infection.
  • Drugs—antipyretic, alcohol, pilocarpine.
  • Endrocrine—thyrotoxicosis, acromegaly, phaeochromocytoma, hyperpituitarism.39
  • Hypoglycaemia.
  • Dumping syndrome.
  • Carcinoid syndrome.
  • Tylosis.
  • Ricket.
  • Infantile scurvy.
  • Rarely, gustatory sweating, lymphoma, malignancy.40
 
PYODERMA GANGRENOSUM
 
Definition
It is a noninfective, necrotising ulceration with clear bluish-red overhanging edge. The lesion starts as a blister or pustule, breaks down centrally, expands rapidly to an ulcer with indurated or undermined purplish or pustular edge.
Occurs commonly in legs, but may be anywhere in the body, may be single or multiple. It is common in adults (25–54 years).
 
Types: 4 types
  1. Ulcerative.
  2. Pustular.
  3. Bullous.
  4. Vegetative.
 
Causes of Pyoderma Gangrenosum
  • Inflammatory bowel disease—ulcerative colitis (common), less in Crohn's disease.
  • Rheumatoid arthritis.
  • Polycythaemia rubravera.
  • Chronic myeloid leukaemia (also in acute myeloid leukaemia).
  • Multiple myeloma and other paraproteinaemias (especially IgA type).
  • Myelofibrosis.
  • Wegener's granulomatosis.
  • Chronic active hepatitis.
  • HIV infection.
  • Idiopathic in >20% cases.
 
Investigations
Diagnosis is usually clinical. Investigations are done to find out the cause—
  1. CBC, ESR.
  2. Blood sugar.
  3. Biopsy from the lesion.
  4. Other investigations according to suspicion of cause—
    • For IBD—barium enema, colonoscopy.
    • For collagen disease—ANA, anti-dsDNA, antiphospholipid antibody.
    • For vasculitis—c-ANCA, p-ANCA.
    • For myeloma—protein electrophoresis, bone marrow.
 
Treatment
  1. Treatment of underlying diseases.
  2. General measures—
    • Control of infection.
    • Local dressing
    • Analgesic for relief of pain.41
  3. Topical—
    • Corticosteroid. Triamcinolone may be injected into the ulcer edge (alone or with systemic treatment).
    • Tacrolimus may be given.
  4. Systemic—
    • Oral prednisolone in high dose. Methylprednisolone 1 g IV for 3 days may be given.
    • Minocycline 100 mg/day may help reduce the dose of steroid.
    • Immunosuppressive agents—ciclosporin, tacrolimus, azathioprine may be used to reduce steroid dependence or in resistant cases.
    • Anti-TNF a (infliximab, etenercept) may be used if others fail.
    • Dapsone, in milder case.
    • Other drug therapy—colchicine, clofazimine, cyclophosphamide, mycophenolatemofetil.42