Acanthosis nigricans
Pigmentation of the axillary skin associated with breast or gastric cancer.
Achondroplasia
Familial dwarfism in which growth of the long bones and skull is defective.
Adenomyomatosis, gallbladder
Adiposa dolorosa
Multiple lipomas, usually on the arms and trunks, that are occasionally painful.
Adrenogenital syndrome
A condition, usually autosomal recessive inheritance, affecting 1:5000 to 1:15 000 births, characterized by cortisol and/or aldosterone deficiency due to an enzymatic defect in cortisol synthesis which results in secondary adrenal hyperplasia through loss of feedback on the pituitary gland. Diversion of precursors into the synthesis of other steroids, particularly androgens, results in virilization and ambiguous genitalia (through clitoral hypertrophy) of the female fetus and pseudoprecocious puberty in the male. Early closure of the epiphyseal plates leads to short stature. Impaired aldosterone secretion can cause a salt-losing state that requires replacement therapy.
Aerocele
The collection of air in one or more tissue layers of the cranium due to injured or inflamed cranial air sinuses.
Albers-Schnberg disease
See osteopetrosis.
Albright's hereditary osteodystrophy
An X-linked form of pseudo-hypoparathyroidism characterized by mental retardation, low serum calcium, cataracts, and tetany. Patients tend to be of short stature and have short first, fourth, and fifth metacarpals. Metastatic calcification of the basal ganglia is a feature.
Albright's syndrome/polyostotic fibrous dysplasia
A condition thought to be due to disordered bony development, featuring fibrodysplastic bony changes, patchy skin pigmentation, and precocious puberty in girls. Affected bones become soft and deformed from childhood onwards.
Allen's test
This assesses the adequacy of the collateral circulation to the hand. Digital pressure is applied to both the radial and ulnar arteries at the wrist and the patient repeatedly clenches a fist. Adequate collateral supply exists if there is complete palmar flushing with 15sec of release of each vessel in turn.
Amastia
Absence of both breast and nipple. 90% of patients with unilateral amastia have absent or hypoplastic pectoral muscles.
Amaurosis fugax
Episodes of transient blindness due to central retinal artery embolization from carotid vessel disease/proximal vessel atherosclerosis.
Amazia
Congenital absence of breast tissue but not the nipple. It is now known as hypoplasia of the breast, to differentiate it from amastia.
Angiodysplasia
Vascular lesions of unknown aetiology, most frequently found in the right colon, occasionally associated with cutaneous and oral lesions. They occur with increasing age and present with bleeding that may be torrential, but more often as a series of small bleeds.
Angiomyoneuroma (glomus tumour)
A small, painful, benign tumour of blood vessels, rarely larger than a few mm in size, mainly found in the extremities. Half arise in the digits, predominantly subungally. They are exquisitely painful and tender and appear blue-purple in colour. Treat by excision with a wide margin.
Angiosarcoma
A soft-tissue tumour of young men and women, producing a hot, bulky tumour with a tendency to bleed and metastasize to the lungs.
Ankyloglossia
Also known as tongue-tie, it is due to a short lingual frenulum. It rarely affects speech, but frenectomy is recommended when food control and oral hygiene are a problem.
Antibioma
A hard, oedematous swelling containing sterile pus following the treatment of an abscess with long-term antibiotics rather than incision and drainage.
Aortoenteric fistula
A connection between the aorta and small intestine, resulting in haemorrhage that becomes increasingly frequent and may culminate with exsanguination. Most commonly due to infection of a prosthetic graft rather than primary spontaneous fistula.
Apert's syndrome
Occurs in 1:160000 births. 30% of cases are autosomal dominant. Skull is ‘tower shaped’ (oxycephaly) with premature fusion of all the sutures. Mild face aplasia and syndactyly of the middle three fingers occurs. Other associations include oesophageal atresia, renal and congenital heart anomalies.
Aphthous ulcers
The most common disorder affecting the oral mucosal membranes. Of unknown aetiology. They are painful, recurrent, and occur most commonly in childhood, rarely in the edentulous. Large ulcers, present for 3 months or more, may mimic carcinomas and should be biopsied if doubt exists.
Arnold-Chiari malformation
A hindbrain abnormality where the cerebellum and medulla are found to lie below the level of the foramen magnum. Compression of the foramen of Magendie results in obstructive hydrocephalus in 80-90% of cases. Syringomyelia and spina bifida are commonly associated.
Askanazy cell tumour/Hurtle cell adenoma, thyroid
A tumour consisting of featureless granular cells of varying size distributed in the fibrous stroma of the thyroid. They are difficult to differentiate from malignant tumours but are regarded as benign.
Asplenia
Absence of the spleen, associated with cardiac anomalies, including situs inversus.
Athelia
Absence of the nipple. It is exceedingly rare.
Baker's cyst
A central swelling of the popliteal fossa, most evident when the patient stands. It represents a synovial membrane diverticulum, almost always associated with knee joint pathology such as arthritis or torn meniscus.
Balanitis xerotica obliterans
A disease of unknown aetiology characterized by keratotic lesions with inflammatory changes leading to phimosis and occasional meatal stenosis. It has the appearance of a white stenotic band at the end of the foreskin and minor trauma often results in haemorrhage.
Ballance's sign
Fixed dullness in the left flank with shifting dullness best appreciated in the right flank, resulting from intraperitoneal and extraperitoneal bleeding following splenic rupture.
Barrett's oesophagus
The presence of columnar lined mucosa in the anatomical oesophagus. May be due to acid or biliary reflux. It is found in 10% of patients undergoing endoscopy for reflux symptoms. Strictures, ulceration, bleeding, dysplasia, and malignant transformation may occur.
Battle's sign
Bruising over the mastoid process following a base of skull fracture that involves the petrous temporal bone.
Bazin's disease
See erytrocyanosis frigida.
Beckwith-Wiedemann syndrome
A congenital defect of the anterior abdominal wall associated with macroglossia, gigantism, and transient hypoglycaemia episodes.
Bezoars
Masses of ingested human hairs (trichlobezoars) or indigestible vegetable matter and fibre (bezoars) that form in the stomach and interfere with digestion, or may migrate into the small bowel and cause intestinal obstruction.
Bier spots
The presence of white patches amongst the mottled blue-purple appearance of an acutely ischaemic limb that has been in a warm environment for several hours.
Blind loop syndrome
Malabsorption due to colonization of a blind-ending segment of bowel by abnormal bacteria that prevent the digestion and absorption of food. Causes include congenital abnormalities (e.g. small bowel diverticula), strictures, or, more commonly, surgical construction of small bowel anastomoses and loops.
Blue naevus
Results when embryonic melanocyte migration from the neural crest is arrested in the dermis.
Bochdalek hernia
A posterior diaphragmatic hernia where the septum transversum fails to unite with the intercostal part of the diaphragm. It occurs in infants and is characterized by gross herniation of abdominal contents and associated lung hypoplasia.
Boehaave's syndrome
Spontaneous oesophageal rupture following an episode of intense vomiting or retching, characterized by severe upper abdominal and chest pain, tachycardia, tachypnoea, and subcutaneous emphysema.
Bornholm disease (epidemic pleurodynia)
Coxsackie B4 virus infection of pleura and peritoneum characterized by severe upper abdominal and chest pain (worse on movement and respiration) associated with dyspnoea, pleuritic pain, headache, and sore throat.
Bowen's disease
An irregular reddish-brown cutaneous plaque, occasionally ulcerated and commonly found on the trunk. It is an intraepidermal carcinoma in situ and may develop into squamous cell carcinoma.
Branham's test
When a pneumatic tourniquet is inflated around the root of a limb with a suspected arteriovenous malformation, a significant fall in the pulse rate suggests a significant arteriovenous shunt.
Budd-Chiari syndrome
Post-hepatic venous obstruction that may result from spontaneous thrombosis, extrinsic compression by tumour, or a web in the vena cava.
Buschle-Lowenstein tumour
A rare benign penile ‘tumour’ caused by human papilloma virus infection with giant tumour growth but only local tissue destruction; may result in urethral fistula formation..
Cloquet's (Callisen's) hernia
A deep femoral hernia that cannot protrude from the saphenous opening as it lies deep to the femoral vessels.
Calot's triangle
An essential landmark in laparoscopic cholecystectomy surgery. Its boundaries are the common hepatic duct, cystic duct, and inferior border of the liver.
Campbell de Morgan spots
Small, red spots that commonly occur on the trunk in middle age and do not blanch. They are of no significance.
Cancer en cuirasse
Multiple malignant nodules on the chest wall in breast cancer that mimic the breast plate on a suit of armour.
Caput medusa
Engorged veins radiating from the periumbilical region, resulting from extrahepatic portosystemic shunting from portal hypertension.
Carbuncle
Multiple, adjacent follicular infections with Staphylococcus aureus, commonly seen in diabetics. Treat with flucloxacillin and surgical drainage as required.
Cardiac myxoma
A rare primary cardiac tumour, commonly arising in the left atrium, that can present either with obstruction mimicking mitral stenosis or tumour emboli.
Carnett's test
Determines whether an abdominal lump lies intraperitoneally or within the abdominal wall. The patient lies flat and raises his extended legs off the couch. An intraperitoneal lump disappears, whereas one in the abdominal wall persists.
Caroli's disease
An anatomical abnormality characterized by intrahepatic cystic changes with an increased risk of bile duct cancer.
Carr's concretions
Microscopic calculi within the papilla of the kidney thought to be involved in the pathogenesis and propagation of renal calculi.
Charcot's triad
Fever, rigors, and jaundice characteristic of acute cholangitis. Right hypochondrial pain is often an additional feature. This is a serious and potentially fatal condition, caused by ascending infection of the biliary tree associated with partial biliary obstruction.
Chemodectoma
A carotid body tumour extending from the carotid bifurcation that presents with a solitary or bilateral lumps anterior and deep to sternocleidomastoid. Characteristically they can be displaced laterally but not vertically, and are associated with bruits and thrills in 20% of cases. The risk of malignancy increases with size.
Chopart's amputation
An amputation made through the tarsal bones.
Churg-Strauss syndrome
Affects young and middle-aged adults, often with a history of atopy, asthma, and allergic rhinitis, in which there is a marked eosinophilia. Clinical manifestations include peripheral neuropathy, cardiac involvement (heart failure and myocardial infarction), and vascular involvement that affects the stomach, small bowel, kidneys, and CNS due to aneurysm formation, thrombosis, and infarction.
Chvostek's sign
Hyperexcitability of the facial nerve to local percussion over the parotid gland in patients with a reduced serum calcium concentration. It can also occur in 10% of normal people.
Chylothorax
The accumulation of lymphatic fluid (which can have the appearance of pus) within the pleural cavity following thoracic duct trauma (blunt and penetrating injuries or surgical procedures), obstruction by malignant disease (particularly lymphomas and carcinomas of the lung and breast), and congenital defects (usually also associated with ascites).
Codman's triangle
Radiographic evidence of periosteal elevation found with osteosarcomas.
Contre-coup injury
Injury to the brain on the opposite side of the initial injury, due to the transmitted movements of the cerebral tissue within the skull.
Cooper's hernia
A rare multilocular deep femoral hernia that enters the thigh via deep investing fascia.
Corrigan's pulse
A collapsing pulse found in the presence of an arteriovenous fistula.
Courvoisier's law
A palpable distended gallbladder in a jaundiced patient is more likely to be due to malignant disease obstructing the bile ducts than gall stones (where the gallbladder tends to be fibrotic and contracted).
Craniocleidodysostosis
An autosomal dominant disease characterized by partial or complete clavicular aplasia, vertebral and digital deformities, and patent fontanelles.
Craniofacial dysostosis/Crouzon's syndrome
A condition characterized by stenotic cranial sutures, maxillary hypoplasia and prognathism, beaked nose, exophthalmos, and mental retardation.
Crigler-Najjar syndrome
Prehepatic jaundice due to an inability to conjugate bilirubin within the liver. There are two types, autosomal recessive (type I) and autosomal dominant (type II).
Cronkhite-Canada syndrome
A triad of GI polyps, alopecia, and fingernail atrophy. The changes are not neoplastic, but due to an unidentified deficiency state.
Crueveilhier's sign (saphena varix)
Is positive if an impulse is felt at the saphenofemoral junction when the patient stands and coughs.
Cullen's sign
Periumbilical bruising seen in acute severe necrotizing pancreatitis or other form of severe intraperitoneal bleed, i.e. ectopic pregnancy, abdominal trauma.
Curling's ulcer
Acute gastroduodenal ulceration associated with severe burns.
Curtis-FitzHugh syndrome
Severe right hypochondrial pain due to perihepatitis due to Chlamydia trachomatis infection
Cushing's ulcer
Acute gastroduodenal ulceration associated with stress, such as severe haemorrhage, myocardial infarct, multiple trauma, and in critically ill patients.
Dandy-Walker syndrome
Congenital absence of the foramen of Magendie, resulting in marked ventricular dilatation. The lateral sinuses appear higher than normal on X-ray because of cerebellar hemisphere widening and the higher attachment of the tentorium cerebelli.
DeQuervain's disease
Inflammation around the extensor pollicis brevis and abductor pollicis longus tendons, often associated with thickening of the extensor retinaculum. This results in pain on movement of the thumb and tenderness where the tendons across the radial styloid.
DeQuervain's thyroiditis
Self-limiting viral inflammation of the thyroid gland, which usually follows a recent upper respiratory tract infarction, characterized by giant cell infiltration.
Dermatomyositis
A condition of insidious onset characterized by proximal muscular weakness, pain, and tenderness. There is a characteristic purple skin rash that affects the cheeks and light-exposed areas. Association with occult malignancies of the colon, lung, breast, and genitourinary tract.
Desmoid tumour
A locally expanding tumour of mesenchymal tissue often found in the infraumbilical abdominal wall muscles or intrabdominal mesenchymal tissue. It commonly affects middle-aged females and requires wide excision. Associated with familial adenomatous polyposis.
Dietl's crisis
The passage of large volumes of urine following acute intermittent hydronephrosis. Classically there is ureteric colic and a palpable, distended kidney. Both resolve after the passage of urine.
Dysplastic naevus (famm) syndrome
Dysplastic naevi are considered precursors of malignant melanoma, when there is a family history. Solitary lesions in the absence of a family history are not. All patients should avoid excessive sunlight.
Ectopia vesicae (bladder exstrophy)
Occurs in 1:30 000 live births, more commonly in males. There is an open bladder and defective anterior abdominal wall associated with separated pubic bones and penile epispadias or bifid clitoris. Associated with glandular metaplasia and the risk of squamous carcinoma of the bladder remnant.
Ehlers-Danlos syndrome
A rare collagen disorder characterized by the development of saccular or dissecting aneurysms.
Emphysematous cholecystitis
A rapidly progressive infection of the gallbladder due to anaerobic organisms, characterized by air in the wall of the gallbladder and a high risk of perforation.
Empyema—gallbladder
A pus-filled gallbladder resulting from impaction of a gallstone in the neck of the gallbladder.
Encephalocele
The protrusion of cranial meninges, cerebrospinal fluid, and brain tissue through an opening in the skull.
Epidermal naevus syndrome
The presence of extensive light-brown warty lesions in association with skeletal and CNS developmental abnormalities.
Epiplocele
A hernial sac containing omentum.
Epispadias
A rare condition characterized by failure of development of the anterior wall of the lower urogenital tract, affecting the glans and penis alone (1:120 000) or the whole urinary tract, when it is commonly associated with bladder exstrophy (1:30 000). It most commonly affects males and is characterized by the urethra exiting from the dorsal penile surface at varying sites.
Epithelioma of Malherbe
Another term for a pilomatrixoma, a red/white subepidermal nodule, frequently calcified and found on the upper body.
Erythrocyanosis frigida
Also known as Bazin's disease. It affects healthy females with fat and often hairless legs. Capillary dilatation alongside arteriolar constriction results in dusky red/purple blotches that blanch on pressure and rapidly refill. They can be painful. Ulceration and persistent oedema may occur in severe cases.
Erythromelalgia
A condition characterized by erythema and pain in the dependent extremities, relieved by elevation. The inappropriate release of local vasodilators has been implicated..
Erythroplasia of Queryat
A reddish-brown, irregular lesion found on the glans penis, which may ulcerate and crust. It is regarded as a carcinoma in situ and nearly always occurs in uncircumcised patients.
Exophthalmos
Proptosis (sticking out of the globe of the eye), lid retraction, conjunctival oedema, and, in severe cases, ophthalmoplegia or optic nerve damage. Affects 2-3% of patients with Graves's disease.
Extradural haematoma
The formation of a haematoma in the extradural space, most commonly following a fracture of the parietal or temporal bones with rupture of the middle meningeal artery or its branches that traverses them.
FAP (familial adenomatous polyposis)
Autosomal dominant syndrome characterized by multiple colorectal and intestinal polyps as well as other intestinal and mesenchymal lesions.
Fallot's tetralogy
Congenital cyanotic heart disease with four features: (1) ventriculoseptal defect; (2) pulmonary stenosis; (3) overriding aorta; (4) right ventricular hypertrophy. The infant becomes cyanosed on exertion and adopts a classical squatting position, which raises their systemic vascular resistance, thereby increasing pulmonary blood flow.
Felty's syndrome
An association between rheumatoid arthritis, splenomegaly, and granulocytopenia, which may be complicated by leg ulcers and recurrent infections.
Finkelstein's test
Used to identify cases of stenosing tenosynovitis. The patient places his thumb in his palm and clenches a fist. The examiner pushes the hand into ulnar deviation and, if positive, pain is felt at the radial styloid, radiating down the forearm.
Foster Kennedy syndrome
Optic atrophy of one eye and papilloedema in the other, which is due to a frontal tumour blocking the subarachnoid space on the ipsilateral side but causing papilloedema on the other side because of raised intracranial pressure.
Fournier's gangrene
A form of necrotizing fasciitis involving the perineal or scrotal skin, leading to subcutaneous necrosis. Synergy appears to occur between normal non-pathogenic organisms, leading to local vascular thrombosis and necrosis. Associated with uncontrolled diabetes mellitus.
Frey syndrome
Gustatory sweating of the cheek following accidental or surgical trauma of the parotid region. It results from cross-regeneration of the transected sympathetic and parasympathetic fibres and develops over about 12 months.
Froment's sign
Weakness of the adductor pollicis following a high ulnar nerve palsy leads to compensatory overaction of the flexor pollicis longus (innervated by the median nerve) when the patient is asked to squeeze a sheet of paper between thumb and index finger.
Galactocele
A cystic lesion containing breast milk, occurring in women who suddenly stop breast feeding.
Gamekeeper's thumb
A sprain of the metacarpophalangeal joint of the thumb, leading to rupture of the ulnar collateral ligament. Non-healing leads to chronic instability and weakened pinch grip.
Gardner's syndrome
Variant of FAP involving an association between multiple epidermal cysts, intestinal polyposis, desmoid tumours, and osteomas.
Garrod's pad
Subcutaneous tissue thickening over the proximal interphalangeal joints that are histologically similar to those found in Dupuytren's disease.
Gaucher's disease
A genetic abnormality leading to active storage of abnormal glucocerebrosides in the spleen, resulting in massive childhood splenomegaly.
Gilbert's syndrome
Congenitally acquired mild jaundice, due to a failure of transport of bilirubin to the liver, which can be precipitated by episodes of starvation. There is an absence of urinary bilirubin, although faecal and urinary urobilinogen levels are increased. It is of little clinical significance.
Glomus tumour
See angiomyoneuroma.
Glucagonoma
A tumour of the pancreatic islet cells characterized by mid maturity-onset diabetes, an erythematous rash that tends to blister and crust, glossitis, and raised glucagon levels.
Gluteal hernia
A very rare type of hernia where visceral contents pass through the greater sciatic notch. It is often only discovered during laparotomy for the relief of intestinal obstruction of no obvious cause. Rarely, swelling around the buttock and pain referred along the sciatic nerve occur.
Grawitz tumour
Adenocarcinoma of the kidney.
Grey Turner sign
Bruising in the flanks resulting from retroperitoneal haemorrhage (e.g. haemorrhagic pancreatitis).
Gynaecomastia
The benign growth of breast tissue in males. The breast is uniformly enlarged and soft. May be physiological (e.g. maternal oestrogens, oestrogen-androgen imbalance of puberty), hypogonadism (pituitary disorders, androgen blockade), neoplasms (adrenal/gonadotrophic tumours, bronchogenic, renal cell, etc.), systemic disease (hepatic failure, renal dialysis, hypothyroidism), and drug-induced (androgen blockers, oestrogens, cimetidine, spironolactone, ketoconazole, methyldopa, metoclopramide, etc.).
Hamartoma
Overgrowths of one (or more) cell types normally found within the organ from which they arise, e.g. neurofibromas.
Hammer toe
Hyperextension of the metatarsophalangeal joint and distal interphalangeal joint with flexion of the proximal interphalangeal joint. This can lead to the development of bursae and calluses. Frequently associated with hallux valgus, overcrowded toes, and diabetic neuropathy.
Hand-Schüller-Christian disease
Multiple visceral and lytic skeletal lesions, characteristically also involving the skull, that are associated with diabetes insipidus and exophthalmos.
Hangman's fracture
Traumatic disruption of the pars interarticularis of the atlas (C2) following a hyperextension injury.
Hashimoto's disease
A diffusely enlarged, painless thyroid gland due to lymphocyte infiltration. Rubbery in nature and often mimicking a multinodular goitre. If enlargement is asymmetrical, other causes must be excluded. Clinically the patient is euthyroid or mildly hyperthyroid.
Henle-Coenen sign
If an arteriovenous fistula is occluded and the distal vessels still pulsate, this indicates that the fistula can be safely treated by ligation.
Hereditary osteodystrophy
An X-linked form of pseudo-hypoparathyroidism characterized by hypoparathyroidism, low serum calcium, mental retardation, cataracts, and tetany. Metastatic calcification of the basal ganglion is also a feature.
Hesselbach's hernia
A rare form of external femoral hernia that enters the thigh lateral to the deep epigastric and main femoral vessels.
Hibernoma
A lipoma consisting of brown fat cells.
Hidradenitis suppurativa
A chronic recurrent deep-seated skin infection of the axilla or perineum.
Housemaid's knee
Chronic bursitis of the prepatellar bursa from the trauma of repeated kneeling (as in scrubbing floors).
Howship-Romberg sign
Pain referred to the inner aspect of the knee via the genicular branch of the obturator nerve, which may arise from an obturator hernia that strangulates.
Hunner's ulcer
Stellate white ulcers within the bladder, resulting from chronic inflammation, that open up on distension and bleed on decompression. Aetiology is unknown and women are more frequently affected. Bladder capacity is reduced and symptoms include urinary frequency and pain on distension, relieved by micturition.
Hydatid of Morgagni
Also known as the appendix testis. Remnant of the Mullerian duct found at the upper pole of the testis, situated in the groove between the testis and epididymis. May undergo torsion.
Hyperhidrosis
Excessive sweating of the axilla, palms, and feet, which can be socially embarrassing and distressing.
Hyperostosis frontalis interna (Morgagni's hyperostosis)
Increased density and projection of the frontal bones affecting the inner table only. Aetiology is unknown. Patients are often asymptomatic.
Hypersplenism
A combination of splenomegaly, anaemia, leucopenia, and/or thrombocytopenia with bone marrow hyperplasia. Splenectomy may be required.
Inspissated bile syndrome
Inspissation of bile in the common bile duct during early infancy (usually from haemolysis), resulting in proximal bile duct and gallbladder dilatation.
Insulinoma
A rare tumour of pancreatic islet beta-cells characterized by hypoglycaemic attacks that are both unpredictable and worsen in severity with time. Diagnosis is based on Whipple's triad.
Intraperitoneal rupture of bladder
Usually traumatic in origin, from surgical instrumentation or abdominal trauma in the presence of a full bladder.
Jansen's disease
An inherited autosomal dominant form of metaphyseal dysostosis, characterized by deafness and extreme dwarfism.
Jefferson's (burst) fracture
Disruption of the ring of atlas (C2) following traumatic injury to the neck. Spinal column damage is uncommon as the fragments tend to open outwards.
Kalokerino's sign
A filling defect of the fundus of the stomach that mimics a neoplasm. It arises when part of the fundus to the left of the cardio-oesophageal junction is about to herniate through it.
Kanavel's sign
Is due to an infected ulnar bursa. Greatest tenderness is elicited in the transverse palmar crease on the ulnar side.
Kantor's string sign
Is indicative of Crohn's disease. Involvement of the terminal ileum leads to structuring of the lumen. This gives the radiological appearance of a thread-like structure on barium follow-through.
Kaposi's sarcoma
Painless red-brown macules on the limbs and anal and oral mucosa. Occasionally they may ulcerate. They can be found in the elderly, endemically (e.g. in Africa), and in immunosuppressed patients (e.g. transplant patients, HIV).
Kartagener's syndrome
Bronchiectasis and sterility resulting from abnormal ciliary action.
Kehr's sign
Left shoulder pain referred from splenic injury and rupture.
Kenaway's sign
A venous hum that is louder on inspiration (on auscultation with the bell of the stethoscope below the xiphisternum), associated with splenomegaly in patients with bilharzial cirrhosis of the liver.
Keratoacanthoma
See Molluscum sebaceum.
Killian's dehiscence
The weak point between the cricopharyngeal and thyropharyngeal muscles through which pharyngeal mucosa can herniate, leading to the formation of a pharyngeal pouch.
‘Kiss’ cancer
Cancer implanted in one area by local contact from another affected site, e.g. cancer of the lip, vulval labium.
Klein's sign
Right iliac fossa pain that moves to the left when the patient turns on to his left side. It can be associated with mesenteric lymphadenitis and Meckel's diverticulum.
Klippel-Trenaunay syndrome
A condition of the lower limb characterized by congenital varicose veins, deep vein abnormalities, bony and soft-tissue deformity, limb elongation, and capillary naevi.
Khler's disease
Osteochondritis of the navicular bone. This can be one of the causes of a painful limp in a child under 5 years of age.
Krukenberg tumour
An ovarian tumour arising from transcoelomic spread of a primary gastric carcinoma.
Ladd's bands
Persistent fibrous bands between the small bowel mesentery and liver which can lead to obstruction of the second part of the duodenum. They are commonly associated with incomplete rotation of the bowel.
Laugier's hernia
A rare form of femoral hernia that enters the thigh through a defect in the pectineal part of the inguinal ligament.
Li-Fraumeni syndrome
An inherited predisposition to cancer thought to be due to mutation of the p53 tumour suppressor genes.
Linitis plastica
Also known as leather bottle stomach. Submucosal proliferation of fibrous tissue secondary to carcinoma of the stomach leads to gastric wall thickening and a reduction in stomach volume and plasticity. Because it spreads readily along the mucosa plane and presents late, its prognosis is poor.
Lipodystrophy
Excessive fat deposition in the legs that may be mistaken for oedema.
Livedo reticularis
Cyanotic skin mottling due to vasospasm of the arterioles with concomitant capillary dilatation.
McBurney's point
Lies one-third of the way along a line drawn from the right anterior superior iliac spine to the umbilicus. It is the classical point of maximal tenderness in acute appendicitis and the centre point for the grid-iron (McBurney's) incision used in open appendicectomy.
McMurray's test
This is used to identify medial meniscal tears. With the patient supine, the knee is flexed and foot rotated medially and laterally, while bringing the knee to 90° of flexion. Discomfort or a click are noted in the presence of a tear.
Madelung's deformity
Dorsal subluxation of the lower end of the ulna that is congenital or traumatic in origin.
Maisonneuve's fracture
The triad of a medial malleolar fracture, spiral fracture of the neck of fibula, and separation of the distal tibiofibular joint found in severe ankle trauma.
Malgaigne's bulges
Bulges seen above the inguinal ligament in thin individuals on coughing or straining. They are variants of normal and do not represent inguinal hernias.
Mallory-Weiss syndrome/tear
Haematemesis resulting from prolonged violent vomiting leading to mucosal tears in the cardia of the stomach.
Marble bone syndrome
See osteopetrosis.
Marfan's syndrome
A rare inherited collagen disorder characterized by tall stature, arachnodactyly (webbed fingers), lens subluxation, and the development of saccular and dissecting aneurysms—particularly of the thoracic aorta. Aortic regurgitation may occur due to aortic root dilatation.
Marion's disease
A rare cause of bladder outflow obstruction in young men due to narrowing of the bladder neck.
Marjolin's ulcer
A longstanding venous ulcer that fails to heal, in which squamous cell carcinoma develops.
Maydl's hernia
The presence of a double loop of bowel within the neck of a hernia, ‘W’ in shape, where strangulation of the middle loop can occur.
Medullary sponge kidney
Is due to dilatation of the terminal collecting ducts of the kidney, which predisposes to the formation of renal calculi.
Meigs' syndrome
Ascites and pleural effusions associated with benign ovarian tumours.
Meleney's gangrene
A form of necrotizing fasciitis mostly seen after abdominal surgery.
Mntrier's disease
Hypertrophy of the gastric mucosa, most typically proximally, resulting in hypochlorhydria and hypersecretion of gastric juices, leading to protein loss. Patients may present with epigastric discomfort and peripheral oedema. There is no associated increased risk of gastric cancer.
Meralgia paraesthetica
Numbness and hyperalgesia around the lateral thigh following entrapment of the lateral cutaneous nerve of the thigh as it passes beneath the inguinal ligament.
Mesentericoparietal hernia of Waldeyer
An internal paraduodenal hernia that lies medially and inferior to the third part of duodenum. It may present with recurrent episodes of abdominal pain and vomiting due to small bowel obstruction.
Meyer-Weigert's law
In patients with complete ureteric duplication, it is the lower-pole ureter that refluxes, because its mucosal tunnel through the bladder wall is shorter.
Milia
Small, white, superficial facial spots derived from hair follicles. They appear in newborn babies and following skin grafting and dermabrasion and are treated by expression.
Mills' manoeuvre
When the forearm is pronated while holding the elbow straight, pain over the common extensor origin is consistent with extensor tenosynovitis (tennis elbow).
Milroy's disease
Lymphoedema, presenting from adulthood onwards, resulting from congenital aplasia of the lymphatic trunk.
Mirrizi's syndrome
Obstructive jaundice resulting from impaction of a gall stone in the cystic duct, which presses against the common hepatic duct, causing extrinsic compression.
Molluscum contagiosum
Small, pale, firm nodules with a characteristic central depression that follow infection with the pox virus. They tend to regress with time, although they can be treated by curettage.
Molluscum sebaceum
A solitary skin tumour that grows rapidly over 6-8 weeks and involutes over about 6 months to leave a residual scar. It has the appearance of a dome-shaped lesion with a central keratin-filled crater, and can be mistaken both clinically and histologically for a well-differentiated squamous cell carcinoma.
Mondor's disease of the breast
Superficial thrombophlebitis affecting the veins of the breast. Initially, there may be tenderness, which is followed by fibrosis and contraction, resulting in skin dimpling.
Morgagni hernia
A congenital diaphragmatic hernia that presents in early adult life with dyspnoea or as an incidental mediastinal mass. Abdominal contents expand into the anterior mediastinal compartment through a persistent defect in the anterior diaphragm.
Morgagni's syndrome
See Hyperostosis frontalis interna.
Murphy's sign
Pain and tenderness in the right upper quadrant directly beneath the ninth costal upon deep inspiration while the examiner's fingers rest over the edge of the lower thoracic margin at this point. It is due to an inflamed gallbladder and the patient may be unable to fully inspire because of the pain.
Myositis ossificans
Ectopic bone formation arising within haematoma in muscle following soft-tissue injury.
Nail-patella syndrome
An inherited condition characterized by radial head subluxation, small patellae, and absent or deformed nails.
Narath's hernia
A rare form of femoral hernia that extends anterior to the femoral artery, beneath its investing fascia.
Nelson's syndromeThe
presence of skin hyperpigmentation and accelerated growth of a pituitary tumour following bilateral adrenalectomy for pituitary-dependent Cushing's. It results from loss of pituitary feedback.
Nutcracker oesophagus
Alternative name for diffuse oesophageal spasm—the presence of long-duration, high-intensity peristaltic contractions in the oesophagus, which may be associated with chest pains and dysphagia.
Obturator sign
The aggravation of right iliac fossa pain upon passive internal rotation of the right hip in patients with appendicitis where the appendix lies adjacent to obturator internus.
Osteogenesis imperfecta
An inherited collagen disorder resulting in fragile bones that fracture easily, blue sclera, deafness, and soft teeth.
Osteopetrosis (Albers-Schnberg disease, marble bone disease)
An inherited disorder of bone resulting in increased bone density, fractures, and anaemia. The recessive form is less severe than the autosomal dominant form.
Osteopoikilosis
Infantile patchy long-bone sclerosis (found radiologically) associated with yellow skin lesions. It has autosomal dominant inheritance and is of no clinical significance.
Oxycephaly
An autosomal dominant condition characterized by stenotic sutures, resulting in a tower-shaped skull, prominent nose, and a lateral squint. Facial deformities are also common. Mental retardation, optic atrophy, and deafness can also occur.
Painful arc syndrome
Shoulder pain occurring between 70° and 110° of abduction due to the passage of an inflamed supraspinatus tendon between the acromion process and head of humerus. The subacromial space is narrowest at this point, leading to impingement.
Pancreas divisum
Arises when the ventral and dorsal pancreatic buds fail to fuse during embryological development. Consequently, the main pancreatic duct drains via an accessory ampulla. The vast majority of patients are asymptomatic, although it may be one of the causes of chronic pancreatitis.
Panda sign
Bilateral black eyes following a head injury, suggestive of a base of skull fracture involving the anterior cranial fossa.
Parkes-Weber syndrome
Bony and soft-tissue limb overgrowth resulting from multiple arteriovenous fistulas. Lipodermatosclerosis, ulceration, and high cardiac output failure may also occur.
Paterson-Brown Kelly syndrome
The association of a pharyngeal web with dysphagia and iron-deficiency anaemia. There is an increased risk of post-cricoid carcinoma.
Peau d'orange
Localized oedema found in breast cancer, where the skin of the breast has the pitted appearance of an orange skin.
Pendred syndrome
Familial association of deafness and goitre with peroxidase deficiency (involved in the synthesis of thyroxine).
Phalen's test
The reproduction of discomfort and paraesthesia of the fingers in the distribution of the median nerve (lateral 3 1/2 fingers) when the wrist is held in flexion. It is due to compression of the median nerve as it passes beneath the flexor retinaculum through the carpal tunnel.
Phlegmasia alba dolens
A swollen, white, oedematous limb, occasionally seen in patients with severe ilio-femoral venous thrombosis. Progression to phlegmasia caerulea dolens may occur.
Phlegmasia caerulea dolens
A blue, swollen, oedematous limb following severe proximal venous thrombosis. This may progress to venous gangrene as circulatory congestion and stasis occur.
Plagiocephaly
Development of an asymmetrical skull arising from the early closure of sutures on one side of the skull.
Plummer-Vinson syndrome
See Paterson-Brown Kelly syndrome.
Pneumatosis cystoides intestinalis
Gas-filled cysts within the intestinal and mesenteric walls, most commonly affecting the small intestine. These can be seen on plain abdominal X-rays.
Pneumaturia
The passage of flatus in urine, which can arise from a colovesical fistula (e.g. diverticular disease, carcinoma, inflammatory bowel disease) or urinary tract infection in diabetics, where the glucose is fermented by the infecting organism.
Poland's syndrome
An association between pectoral muscle abnormality, absence or hypoplasia of the breast, and characteristic hand deformity of hypoplasia of the middle phalanges and skin webbing (synbrachydactyly).
Pott's carcinoma of scrotum
Squamous cell carcinoma of the scrotum, associated with chronic exposure of the scrotal skin to aromatic carcinogens in coal-derived chimney soot. Now more commonly associated with exposure to heavy metals and mineral oils, particularly ones used in the cotton industry.
Pott's disease of the spine
Tuberculosis of the spine leading to bony destruction and vertebral collapse, leading to kyphosis and spinal compression.
Pott's peculiar tumour
A large trichilemmal cyst, commonly occurring on the scalp, which can ulcerate and resembles a squamous carcinoma (both clinically and histologically). They are benign but may recur after excision. They rarely undergo malignant transformation.
Pott's puffy tumour
Osteomyelitis of the skull bones following untreated frontal sinusitis. This results in overlying scalp inflammation and swelling.
Proctalgia fugax
Severe recurrent rectal pain in the absence of any organic disease. Attacks may occur at night, after bowel actions, or following ejaculation. Anxiety is said to be an associated feature.
Pseudomyxoma peritonei
Disseminated mucinous tumour within the peritoneal cavity. Commonly due to ruptured ovarian or appendiceal mucinous neoplasms. Locally recurrent and potentially fatal even with heroic surgery and chemotherapy.
Ranula
A saliva-containing cyst in the floor of the mouth that has a soft, bluish submucosal appearance.
Raspberry tumour
A tender, granulomatous mass arising from the posterior urethral meatus.
Redcurrant jelly stool
A description attributed to the bloodstained stool found in intussusception.
Reidel's thyroiditis
Thyroiditis characterized by a marked fibrotic reaction leading to a hard, non-tender thyroid gland. Thyroid function tends to be normal, and differentiation from malignant disease can be difficult as fine-needle aspirates tend to be acellular.
Reinke's oedema
The presence of generalized oedema of the upper vocal cords in response to noxious stimuli.
Reiter's syndrome
The triad of polyarthritis, conjunctivitis, and urethritis as a result of venereal infection, usually chlamydia. The initial attack lasts for 4-6 weeks, although some patients develop chronic symptoms.
Rendu-Osler-Weber syndrome
Hereditary haemorrhagic telangiectasia: a rare autosomal dominant condition characterized by the presence of haemangiomas affecting the lips, buccal cavity, nasopharynx, and whole GI tract. These may bleed, resulting in episodes of harmatemesis, haematuria, melaena, epistaxis, or anaemia that are self-limiting.
Richter's hernia
A form of strangulated hernia in which only part of the bowel lumen becomes strangulated, leading to incomplete intestinal obstruction with ischaemia and gangrene of the strangulated part.
Rovsing's sign
Pain and tenderness in the right iliac fossa produced by palpation of the left iliac fossa. It may be found in acute appendicitis.
Sabre-tibia
Occurs in late syphilis, where new formation of subperiosteal bone results in bowing.
Saint's triad
The association between cholelithiasis (gall stones), hiatus hernia, and diverticular disease.
Scheie's syndrome
An autosomal recessive skeletal disorder associated with corneal clouding, cardiac anomalies, and epiphyseal dysplasia.
Scheuermann's disease
A disease that predominantly affects young adolescent males where vertebral growth plates are affected by osteochondrosis or aseptic necrosis, resulting in back pain and progressive kyphosis.
Schmorl's node
A lucent area with surrounding new bone formation in a vertebral body, resulting from extrusion of the nucleus pulposus into the vertebral body.
Sever's disease
Osteochondritis of the posterior epiphysis of the os calcis near the insertion of Achilles tendon.
Shoveller's fracture
A stable cervical injury resulting from fracture of the spinous process of C7 due to either trauma or muscular contraction.
Sinding-Larsen's disease
Osteochondritis of the distal part of the patella.
Sister Joseph's nodule
The appearance of umbilical nodules in the presence of advanced intra-abdominal carcinoma, typically stomach but also large bowel, ovarian, or, occasionally, breast.
Sjgren's syndrome
The presence of keratoconjunctivitis sicca, salivary gland involvement (leading to xerostomia, i.e. dry mouth), and rheumatoid arthritis or other mixed connective tissue disorder. Primary Sjgren's characterized by the first two features, whereas secondary Sjgren's has all three.
Spigelian hernia
A rare type of hernia due to defects within the internal oblique aponeurosis as it interdigitates with the anterior and posterior rectus sheath. Peritoneum and visceral contents may herniate through these small defects.
Stevens-Johnson syndrome
Also known as erythema multiforme, characterized by ulceration that has a characteristic target appearance and results from drug allergies (particularly to sulphonamides and barbiturates), mycoplasmal infections, or idiopathically. The lesions may be associated with conjunctivitis, tracheitis, and dysphagia.
Stewart-Treves syndrome
The development of angiosarcoma in a chronically lymphoedematous limb—in this particular case, following radical mastectomy for breast cancer.
Sump syndrome
Due to the collection of stones and debris in the distal common bile duct following choledochoduodenostomy, resulting in epigastric pain, cholangitis, and pancreatitis.
Thrombophlebitis migrans
Increased coagulability of blood associated with visceral cancers, particularly adenocarcinomas.
Tietze's disease
Also known as costochondritis; affects the costal cartilages resulting in chest pain that can be reproduced by pressure to the affected cartilages.
Tinel's sign
Transient finger paraesthesia that follows percussion of the median nerve proximal to the wrist in patients with median nerve compression due to carpal tunnel syndrome.
Treacher Collins syndrome
Also known as mandibulo-facial dysostosis. An autosomal dominant condition characterized by symmetrical external and middle ear, zygoma, and mandibular hypoplasia, parrotbeaked nose, absence of medial lower eyelashes, dental crowding, and abnormal palpebral fissures.
Trichlobeozars
See Beozars.
Troisier's sign
Enlargement of the left supraclavicular lymph node due to advanced metastatic gastric carcinoma.
Trousseau's sign
Phlebothrombosis of the superficial leg veins associated with gastric cancer.
Umbolith
An umbilical concretion of desquamated skin, which can lead to infection.
Ureterocele
A cystic dilatation of the intravesical submucosal ureter. It is often associated with other congenital anomalies, including duplicated ureters.
VACTERL syndrome
The association of vertebral (V), anorectal (A), cardiovascular (C), tracheo-oesophageal (te), renal (R), and limb (L) anomalies. Progesterone and oestrogen intake during early pregnancy have been implicated.
Vermooten's sign
Digital rectal examination reveals a doughy, displaced, or absent prostate in the presence of an intrapelvic rupture of the prostatic urethra.
Von Hippel-Lindau disease
An inherited disorder characterized by cerebellar and spinal cord haemangioblastomas, retinal angiomas, and an increased risk of visceral cancers, particularly renal cell carcinoma.
Von Recklinghausen's disease (neurofibromatosis type I)
Autosomal dominantly inherited nodular thickening of nerve trunks, associated with patchy skin pigmentation (caf-au-lait spots). Malignant transformation of these neurofibromas tends to occur only in this particular subgroup of patients, and their prognosis is poor.
Von Rosen's sign
Congenital dislocation of the hip; results in a click when the hip is flexed and adducted, then flexed and abducted, as this causes the femoral head to dislocate and relocate.
Waldenstrm disease
Necrosis of the articular cartilage of the head of femur following a slipped femoral epiphysis. This leads to stiffness or complete loss of movement in that hip.
Waterhouse-Friderichsen syndrome
Bilateral adrenal cortical necrosis due to septicaemia (meningococcal, pneumococcal, streptococcal), haemorrhage, or burns.
Whipple's triad
Fasting hypoglycaemic attacks with a blood glucose of less than 2.5mmol/L, relieved by glucose and associated raised insulin levels. These are characteristic of an insulinoma.
Whitaker test
Can be used to assess the degree of ureteric obstruction. Saline is perfused into the kidney via a renal puncture at a rate of 10mL/min and the pressure gradient measured across the uretericvesical junction. Ureteric obstruction is indicated by a pressure difference greater than 20cmH2O. Less than 15cmH2O is normal.
Youssef's syndrome
A ureterovesical fistula that presents with monthly episodes of haematuria.
Zenker's diverticulum
A pharyngeal pouch that occurs though the dehiscence of Killian, between cricopharyngeus and inferior constrictors of the pharynx. There is usually a history of food sticking and regurgitation. Progressive weight loss, dysphagia, and aspiration pneumonia can also occur.
Zollinger-Ellison syndrome
Intractable duodenal ulceration due to elevated levels of circulating gastrin levels. There is an association with MEN type I. Diagnosis is confirmed by acid secretion tests, which show elevated resting levels. Secretin challenge elevates gastrin levels in G-cell hyperplasia but not G-cell tumours.
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