General Appearance, Facies, and Body Habitus

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Chapter 1 General Appearance, Facies, and Body Habitus

“I knew you came from Afghanistan. From long habit, the train of thought ran so swiftly through my mind that I arrived at the conclusion without being conscious of immediate steps. There were such steps, however. The train of reasoning ran: ‘Here is a gentleman of a medical type, but with the air of a military man. Clearly, an army doctor then. He has just come from the tropics, for his face is dark, and that is not the natural tint of his skin, for his wrists are fair. He has undergone hardship and sickness, as his haggard face says clearly. His left arm has been injured. He holds it in a stiff and unnatural manner. Where in the tropics could an English army doctor have seen much hardship and got his arm wounded? Clearly in Afghanistan.’ The whole train of thought did not occupy a second. I then remarked that you came from Afghanistan and you were astonished.”

Arthur Conan Doyle, A Study in Scarlet, 1887

“You can observe a lot by watching.”

Yogi Berra

General Appearance

1 What is the value of carefully examining the patient’s general appearance?

It is the Sherlockian value of making a diagnosis at first sight, sometimes while walking down a street. Attentive and knowledgeable observation is a time-honored skill of poets, physicians, and serial killers, beautifully articulated by Sir Arthur Conan Doyle (himself a doctor and a former student of the charismatic bedside diagnostician, Prof. Joseph Bell) in describing the first encounter between Holmes and Watson. The Sherlockian process requires practice and knowledge and is quite challenging. But it is also the most valuable, rewarding, and fun aspect of bedside diagnosis. It is best learned by having the luck to work with a physician who is skilled at it.

A. Posture

3 What information can be obtained from observing the patient’s posture?

In abdominal pain the posture is often so typical as to localize the disease:

Patients with pancreatitis usually lie in the fetal position: on one side, with knees and legs bent over.

Patients with peritonitis are very still and avoid any movement that might worsen the pain.

Patients with intestinal obstruction are instead quite restless.

Patients with renal or perirenal abscesses bend toward the side of the lesion.

Patients who lie supine, with one knee flexed and the hip externally rotated, are said to have the “psoas sign.” This reflects either a local abnormality around the iliopsoas muscle (such as an inflamed appendix, diverticulum, or terminal ileum from Crohn’s disease) or inflammation of the muscle itself. In the olden days, the latter was due to a tuberculous abscess, originating in the spine and spreading down along the muscle. Such processes were referred to as “cold abscesses” because they had neither warmth nor other signs of inflammation. Now, the most common cause of a “psoas sign” is intramuscular bleeding from anticoagulation.

Patients with meningitis lie like patients with pancreatitis: on the side, with neck extended, thighs flexed at the hips, and legs bent at the knees—juxtaposed like the two bores of a double-barreled rifle.

Patients with a large pleural effusion tend to lie on the affected side to maximize excursions of the unaffected side. This, however, worsens hypoxemia (see Chapter 13, questions 48–51).

Patients with a small pleural effusion lie instead on the unaffected side (because direct pressure would otherwise worsen the pleuritic pain).

Patients with a large pericardial effusion (especially tamponade) sit up in bed and lean forward, in a posture often referred to as “the praying Muslim position.” Neck veins are greatly distended.

Patients with tetralogy of Fallot often assume a squatting position, especially when trying to resolve cyanotic spells—such as after exercise.

4 What is the posture of patients with dyspnea?

An informative alphabet soup of orthopnea, paroxysmal nocturnal dyspnea, platypnea and orthodeoxia, trepopnea, respiratory alternans, and abdominal paradox. These can determine not only the severity of dyspnea, but also its etiology (see Chapter 13, questions 35–51).

B. State of Hydration

10 Why is important to have the patient supine for at least 2 minutes before (s)he stands?

Because 2 minutes in the supine position is necessary to cause maximal leg pooling of blood, and thus maximal drop in cardiac output and maximal increment in heart rate upon restanding. Hence, 2 minutes in the supine position increases the sensitivity of the tilt test.

11 What physiologic changes occur on standing?

Within 1–2 minutes, 7–8 mL/kg of blood (350–600 mL) shifts to the lower body. This decreases intrathoracic volume, stroke volume, and cardiac output while at the same time increasing circulating catecholamines. This, in turn, speeds heart rate and increases systemic vascular resistance. It also shifts blood from the pulmonary to the systemic circulation—all compensatory changes aimed at normalizing blood pressure. When these measures are ineffective (because of autonomic disregulation) or overwhelmed (because of blood loss), orthostatic changes will ensue.

12 Should the patient lie supine for more than 2 minutes before standing up?

No. A longer period does not increase the sensitivity of the test.

13 Is sitting equivalent to standing?

No. In fact, sitting greatly reduces the degree of leg “pooling” and thus the sensitivity of the test.

14 What is the normal response to the tilt test?

Going from supine to standing, a normal patient exhibits the following:

Heart rate increases by 10.9 ± 2 beats/minute and usually stabilizes after 45–60 seconds.

Systolic blood pressure decreases only slightly (by 3.5 ± 2 mmHg) and stabilizes in 1–2 minutes.

Diastolic blood pressure increases by 5.2 ± 2.4 mmHg. This, too, stabilizes within 1–2 minutes.

Hence, you should count the heart rate after 1 minute of standing, and only afterwards measure the blood pressure. This will allow an additional minute for blood pressure to stabilize.

15 Does the tilt test changes with age?

Yes. As patients get older, age-related autonomic dysfunction will cause the postural increase in heart rate to become smaller and the decrease in blood pressure to become larger.

16 What is orthostatic hypotension?

It is a persistent drop in systolic blood pressure >20 mmHg going from supine to a standing position. When not associated with dizziness, this finding has low specificity for hypovolemia; it is encountered with equal frequency in hypovolemic and normovolemic subjects (see later).

17 What is the heart rate response to a tilt test?

It depends on the degree of hypovolemia. Most patients with severe blood loss (600–1200 mL) exhibit clear-cut orthostatic changes, like feeling dizzy upon standing (which practically stops the test) or experiencing a postural increase in heart rate (>30/min). As opposed to an isolated change in blood pressure, these findings are quite specific for hypovolemia, but sensitive only for large blood losses (100%). For moderate losses (<600 mL), their sensitivity is lower (10–50%).

18 So what are the findings of a positive tilt test for hypovolemia?

The most helpful is a postural increase in heart rate of at least 30 beats/minute (which has a sensitivity of 97% and a specificity of 96% for blood loss >630 mL). This change (as well as severe postural dizziness, see later) may last 12–72 hours if IV fluids are not administered.

The second most helpful finding is postural dizziness so severe to stop the test. This has the same sensitivity and specificity as tachycardia. Mild postural dizziness, instead, has no value.

Hypotension of any degree while standing has little value unless associated with dizziness. In fact, an orthostatic drop in systolic BP >20 mmHg unassociated with dizziness can occur in one third of patients >65 years old and 10% of younger subjects, with or without hypovolemia.

Supine hypotension (systolic BP <95 mmHg) and tachycardia (>100/min) may be absent, even in patients with blood losses >1 L. Hence, although quite specific for hypovolemia when present, supine hypotension and tachycardia have low sensitivity; they are present in one tenth of patients with moderate blood loss and in one third with severe blood loss. Paradoxically, blood-loss patients may even present with bradycardia as a result of a vagal reflex.

Note that bedside maneuvers have been primarily studied in patients with blood loss. They have not been as extensively evaluated for hypovolemia from vomiting, diarrhea, or decreased oral intake.

19 What is the significance of an orthostatic drop in systolic blood pressure?

It reflects intravascular depletion, usually from blood loss. Yet, this may also occur in normovolemia. Moreover, it has a sensitivity of only 9% for blood loss of 450–630 mL. Hence, it is not particularly useful—and definitely much less useful than the postural heart rate response.

20 In addition to volume loss, are there any other causes of an abnormal tilt test?

The most common is the inability of the heart to increase its output as a result of pump failure. Postural changes can also be due to cardiac inability to increase rate (a common phenomenon in the elderly), various neurogenic disorders, autonomic neuropathies, certain antihypertensives, prolonged bed rest, and even the weightlessness of space travel.

21 How do you assess skin turgor?

By pinching the abdominal skin with thumb and forefinger, pulling it upward over the abdominal plane, and then suddenly releasing it. Normal skin quickly returns to its original position.

22 What is poor skin turgor?

It is a loss of elasticity, another bedside indicator of hypovolemia. The physiology behind this test is rooted in the extreme changes in elastin caused by a decrease in moisture. Impaired elasticity (which may result from loss of as little as 3.4% in wet weight) prolongs the cutaneous recoil time by 40 times, delaying the skin’s ability to spring back into place, and thus resulting in “tenting”—the lingering of the skin as a crease above the abdominal plane. Since older patients have less elasticity, this test has no real diagnostic value in adults. In children, instead, it is useful. Yet, since skin turgor may reflect not only the level of hydration (including electrolyte status) but also the level of nutrition (i.e., the amount of subcutaneous fat), “tenting” can be absent in cases of obesity or hypernatremic dehydration. Hence, the standard assessment of hypovolemia in all patients remains a set of basic laboratory tests: serum electrolytes, urea nitrogen, and creatinine.

23 What is the capillary refill time?

Another bedside assessment of volume status. This can be carried out through the “nail blanch test.” Place the patient’s hand at the same level as the heart, and then compress the distal phalanx of the middle finger for 5 seconds until it blanches. Release pressure, and measure how long it takes for the nail bed to regain its normal color. At room temperature (21°C), the upper limits of this capillary refill time (CRT) are 2 seconds for children and adult men, 3 seconds for adult women, and 4.5 seconds for the elderly. At colder temperatures, the normal upper limit may even be higher, raising questions regarding the reliability of the test in the prehospital setting.

24 What is the significance of a prolonged CRT?

It suggests tissue hypoperfusion and thus dehydration with possible hypovolemic shock. In adults, a prolonged CRT can also suggest heart failure or peripheral vascular disease.

25 How useful is CRT prolongation in estimating dehydration of infantile diarrhea?

Probably useful. In a study of 32 infants, 2–24 months of age, who had diarrhea, a CRT of <1.5 seconds was found to be indicative of a <50 mL/kg deficit or of a normal infant; 1.5–3.0 seconds suggested a deficit between 50–100 mL/kg, and >3 seconds suggested a deficit of >100 mL/kg. Conversely, in 30 age-matched normal controls, CRT was 0.81–0.31 seconds. Yet, in another study of approximately 5000 children evaluated in an emergency ward, a CRT >3 seconds was a poor predictor of the need for either intravenous fluid bolus or hospital admission.

26 How valuable is CRT in adults?

Not valuable at all. Using the age- and sex-specific upper limits of normal that were previously described, a prolonged CRT does not accurately predict 450 mL of blood loss (6% sensitivity, 93% specificity, positive likelihood ratio [LR], 1.0). Diagnostic performance is not improved by using an arbitrary upper limit of 2 seconds (11% sensitivity, 89% specificity, positive LR, 1.0). Hence, although the test has good interobserver agreement, its clinical value in adults is limited.

27 What other bedside findings can estimate the patient’s volume status?

Dry mucous membranes

Dry axillae

Sunken eyes

Longitudinal tongue furrows

Interobserver agreement for these findings is moderate (80%). In a study of 100 ill elderly patients, dry axillae had a 50% sensitivity for detecting dehydration (percentage of dehydrated subjects without sweating) and a specificity of 82% (percentage of nondehydrated subjects with sweating). They also had a positive predictive value of 45% (percentage without sweating who were dehydrated) and a negative predictive value of 84% (percentage with sweating who were not dehydrated). Using likelihood rations, dry axillae do increase the probability of hypovolemia (positive LR, 2.8), although their sensitivity is rather low (50%). Conversely, moist axillae slightly decrease the probability of volume depletion (negative LR, 0.6).

28 How valuable are dry mucous membranes in adults?

Valuable. In a study of elderly patients admitted to the emergency department, indicators that correlated best with dehydration severity (but were unrelated to patient age) included dry tongue, dry oral mucosae, and longitudinal tongue furrows (all with p <0.001). Other statistically significant indicators are upper body muscle weakness and confusion (p <0.001) and speech difficulty/sunken eyes (p <0.01).

29 What is the significance of dry mucous membranes in children?

It also indicates volume depletion. Still, several other findings may suggest this diagnosis, with their number increasing in proportion to the severity of the condition:

Mild depletion corresponds to <5% intravascular contraction (i.e., <50 mL/kg loss of body weight). This is usually determined by history alone, since physical signs are minimal or absent. Mucosae are moist, skin turgor and capillary refill normal, and pulse slightly increased.

Moderate depletion corresponds instead to 100 mL/kg loss of body weight. Mucosae are dry, skin turgor reduced, pulses weak, and patients are tachycardic and hyperpneic.

Severe depletion corresponds to >100 mL/kg loss of body weight. All previous signs are present, plus cold, dry, and mottled skin; altered sensorium; prolonged refill time; weak central pulses; and, eventually, hypotension.

C. State of Nutrition

30 What information should be obtained about the patient’s state of nutrition?

First, you should determine whether the patient is well nourished or malnourished. Then, whether (s)he is overweight, and, if so, to what degree. Distribution of obesity also should be determined.

31 What is the BMI?

It is the acronym for body mass index, the federal government’s standard for body weight. This represents the proportion of height to weight, expressed as the ratio between a subject’s weight and height (normal range, 18.5–24.9). The BMI provides a much better measurement of body fat than the traditional weight and height charts. For example, currently anyone with a BMI >25 is considered overweight; however, older standards classify men with a BMI >27.3 as overweight and women with a BMI >27.8 as overweight. In fact, those with a BMI of 25.0–29.9 are overweight, and those with a BMI >30.0 are obese. In younger subjects, a BMI >25 is a good predictor of cardiovascular risk. Yet, this may not apply to the elderly (see later).

32 How common is obesity?

Epidemic. Given the revised guidelines, more than half of all Americans age 20 or older are overweight; more than one fifth are obese—a percentage that has dramatically risen since the 1960s.

34 What are the cutoffs for BMI?

In a New England Journal of Medicine study, subjects with a BMI <19 had the lowest death rate. Risk of death was 20% higher if BMI was 19–24.9; 30% higher if 25–26.9; 60% higher if 27–28.9; and twice as high (100%) if >29. This may vary if there are comorbid conditions.

35 What is a comorbid condition?

Any condition associated with obesity that worsens as the degree of obesity increases, and, conversely, improves as obesity is successfully treated. Risk of disease based only on BMI increases whenever the patient has one or more comorbid conditions.

36 How do you measure the BMI?

The best way is a BMI chart, wherein you simply locate the height (inches) and weight (pounds) of a patient and then find the corresponding BMI at the intersection of the two. BMI can also be determined by dividing weight in kilograms by height in meters squared (BMI = kg/m²). The following formula provides a shortcut: (1) multiply weight (in pounds) by 703; (2) multiply height (in inches) by height (in inches); (3) divide the answer in step 1 by the answer in step 2.

37 Is the BMI foolproof?

No. Although a better predictor of disease risk than weight alone, it may be inaccurate in growing children or frail and sedentary elderly patients. It may also be spuriously increased in competitive athletes and body builders (because of larger muscle mass), or pregnant and lactating women. Overall, indices of distribution of body fat have recently gained favor as better risk predictors.

38 How important is the distribution of body fat?

Very important, since it strongly determines the impact of obesity on health. Fat deposition may be central (mostly in the trunk) or peripheral (mostly in the extremities) (Fig. 1-1).

Central obesity has a bihumeral diameter greater than the bitrochanteric diameter; subcutaneous fat has a “descending” distribution, being mostly concentrated in the upper half of the body (neck, cheeks, shoulder, chest, and upper abdomen).

Peripheral obesity has instead a bitrochanteric diameter greater than the bihumeral diameter; subcutaneous fat has an “ascending” distribution, being mostly concentrated in the lower half of the body (lower abdomen, pelvic girdle, buttocks, and thighs).

Figure 1-1 Peripheral (A and B) and central (C) obesity.

Men tend to have central obesity, whereas women have peripheral obesity. Upper and central body fat distribution (especially if intra-abdominal rather than subcutaneous) is a greater predictor of insulin resistance and cardiovascular risk than BMI alone. It also has higher association with hypertension, diabetes, atherosclerotic cardiovascular diseases, and other chronic metabolic conditions (metabolic syndrome). For example, a waist-to-hip ratio ≥1.0 is considered an “at risk” indicator for both men and women, confirming that an apple shape (extra weight around the stomach) is more dangerous than a pear shape (extra weight around hips or thighs). Subjects judged to be lean by BMI alone may be very insulin resistant if their body fat is centrally distributed.

39 How do you assess body fat distribution?

By waist circumference (WC) and waist-to-hip ratio (WHR). Of these, WC is a better predictor of abdominal fat content, and both are much better markers for cardiovascular risk than BMI alone.

40 How do you measure the WC?

By applying a measuring tape between the last rib and the iliac crest, at minimal inspiration and to the nearest 0.1 cm (0.04 in). This coincides with the narrowest waist level, just above the umbilicus.

41 How do you measure the WHR?

As a waist circumference divided by hip circumference. To do so, tape-measure hip circumference at the widest part of the buttocks, and divide this by the previously measured waist circumference. The ratio is the WHR. This may be especially valuable in the elderly, since a recent British study by Fletcher et al. showed that in subjects older than 75 a high WHR (>0.99 in nonsmoking men and >0.90 in nonsmoking women) is associated with a 40% higher risk of cardiovascular disease/death than a lower WHR (≤0.8). The BMI was instead a less important predictor. In fact, older men and women with lower BMI (less than 23 and 22.3, respectively) were actually the ones most likely to die, suggesting that a low BMI in this population may indicate muscle loss or poor nutrition. Hence, in the elderly the WHR is a more accurate indicator of excess body fat.

42 What is the WHR threshold for cardiovascular risk?

The cutoff seems to be a waist-to-hip ratio of 0.83 for women and 0.9 for men. Favoring WHR over BMI would result in a threefold increase in the population at risk for myocardial infarction. This would be especially valuable in Asia, where obesity by BMI is rare, but WHRs can be quite abnormal (Table 1-1).

Table 1-1 Cardiovascular Risk Based on Waist-to-Hip Ratio

43 What is the WC threshold for cardiovascular risk?

It depends on age and sex. Overall, the cutoff for cardiovascular risk is 102 cm (40.2 in) in men and 88 cm (34.7 in) in women. Yet, a WC <100 cm practically excludes insulin resistance in both sexes (negative predictive value, 98%—BMJ, 2005.

44 Why is abdominal obesity such a good marker of insulin resistance?

Because hyperinsulinemia activates 11-Beta-hydroxysteroid dehydrogenase in omental adipose tissue, thus generating active cortisol and promoting a cushingoid fat distribution. Hence, WC is an excellent tool to either exclude insulin resistance or identify subjects at risk.

45 Does WC correlate with BMI?

Not necessarily. In fact, within the three BMI categories (normal, overweight, obese), subjects with higher WC values (men, >102 cm; women, >88 cm) are significantly more likely to have hypertension, diabetes, dyslipidemia, and the metabolic syndrome than those with normal WC (men, ≤102 cm; women, ≤88 cm). This is independent of other confounding variables, such as age, race, poverty–income ratio, physical activity, smoking, and alcohol intake.

46 How do you define malnutrition on the basis of BMI?

As severe (BMI <16), moderate (BMI 16–16.9), and marginal (BMI 17–18.4). Still, there are limitations to its use (see later).

47 How else can you identify malnutrition?

Through history and physical exam. Features of both can be combined in the subjective global assessment (SGA) of nutritional status, dividing patients into one of three groups:

Class A (well-nourished)

Class B (moderately malnourished)

Class C (severely malnourished)

48 What are the physical examination components of the SGA?

Detecting loss of subcutaneous fat, loss of muscle, and shift of intravenous fluid. These are recorded as normal (0), mild (1+), moderate (2+), or severe (3+).

The best locations for assessing subcutaneous fat are the triceps regions of the arms, the midaxillary line at the costal margin, the interosseous and palmar areas of the hand, and the deltoids of the shoulder. Loss of subcutaneous fat appears as lack of fullness, with skin loosely fitting over the deeper tissues.

Muscle wasting is best assessed by palpation (although inspection may also help). Best locations for doing so are the quadriceps femoris and deltoids. Shoulders of malnourished patients appear “squared off” as a result of both muscle wasting and subcutaneous fat loss.

Loss of fluid from the intravascular to extravascular space refers primarily to ankle/sacral edema and ascites. Edema is best assessed by palpation—that is, by pressing over the ankles or sacral area. Fluid displaced from subcutaneous tissues as a result of compression is its hallmark. Such displacement is clinically manifested by a persistent depression of the compressed area (pitting), which lasts for more than 5 seconds.

Once gathered, these physical findings should be quantified (as normal, mild, moderate, or severe), combined subjectively with other clinical findings, and an SGA finally generated. There is no clear-cut weighting recommendation for combining these features, even though the following variables are usually important:

Weight loss >10%

Poor dietary intake

Loss of subcutaneous tissue

Muscle wasting

For example, patients with all three physical signs of malnutrition plus a weight loss >10% are usually classified as severely malnourished (class C). Note that the SGA technique is not highly sensitive for diagnosing malnutrition, but it is quite specific.

49 Why should one bother to evaluate for malnutrition?

Because it is a risk factor for major complications, such as infection or poor wound healing. In this regard, the SGA has been used successfully (both diagnostically and prognostically) in patients undergoing surgery, dialysis, and liver transplant. Conversely, a low BMI is not necessarily associated with adverse postoperative outcomes. In fact, it can easily overestimate severe malnutrition.

D. Facies

50 What is facies?

It is the Latin word for face, and the term used to indicate the peculiar and often pathognomonic facial features of a particular disease. Physicians with a trained eye can quickly recognize a “facies” and often make a diagnosis by simply walking into the waiting room.

51 Which disease processes are associated with a typical facies?

Quite a few. The following list is not necessarily exhaustive (Table 1-2):

Facies bovina: The cowlike face of Greig’s syndrome: large cranial vault, huge forehead, high bregma, and occasional hypertelorism (widely spaced eyes)—all due to an enlarged sphenoid bone. It is often associated with other congenital deformities, such as osteogenesis imperfecta, syndactyly and polydactyly, Sprengel’s deformity (scapular elevation), and mental retardation.

Elfin face: An unusually flat face, with broad forehead, hypertelorism, short and upturned nose, low-set ears that are posteriorly rotated, puffy cheeks, wide mouth, patulous lips, hypoplastic teeth, and a deep husky voice. Patients are mentally retarded, but with a sweet and friendly personality. They are also typically short, and with congenital supravalvar aortic stenosis. Hypercalcemia may be present. First described by Williams in 1961.

Cherubic face: The child-like face of cherubism, a familial fibrous dysplasia of the jaws, with enlargement in childhood and regression in adulthood. Also seen in forms of glycogenosis.

Hound-dog face: The face of cutis laxa (dermatochalasis), a degenerative disease of elastic fibers, with skin progressively loose and hanging in folds—like that of a hound dog. Premature aging is common, and so are vascular abnormalities, gastrointestinal/bladder diverticula, and pulmonary emphysema. The face has an antimongoloid slant, slightly everted nostrils, prominent ears, and epicanthic folds. In contrast to Ehlers-Danlos syndrome, there is no joint laxity.

Hurloid face: The coarse and gargoyle-like face of Hurler’s syndrome (mucopolysaccharidosis type I, described in 1919 by the German pediatrician Gertrud Hurler). Because of lack of L-iduronidase, these patients accumulate intracellular deposits, with abnormal skeletal cartilage and bone, dwarfism, kyphosis, deformed limbs, limited joint motion, spade-like hands, corneal clouding, hepatosplenomegaly, mental retardation, and, of course, a gargoyle-like face.

Morquio’s face: The bizarre face of Morquio syndrome (mucopolysaccharidosis type IV). Like Hurler’s, this is also associated with short stature, but intelligence is normal. The face is coarse, with corneal clouding, large mouth, anteverted nose, and short neck. In addition, there may be chest and limb deformities (short and kyphotic trunk, pectus carinatum, protruded abdomen, and genu valgum), hepatosplenomegaly, urinary excretion of mucopolysaccharides, and neutrophils with intracytoplasmic metachromatic granules (Alder-Reilly bodies). Severe spinal defects may eventually lead to fatal cord compression and respiratory failure.

Potter’s face: The characteristic facies of bilateral renal agenesis (Potter’s syndrome) and other kidney malformations: hypertelorism, prominent epicanthal folds, low-set ears, receding chin, and flattened nose. There may also be pulmonary hypoplasia and cardiac malformations (ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus).

Facies leonina: Also referred to as leontiasis, from the lion-like appearance. It is the face of advanced lepromatous leprosy, with prominent ridges and furrows of forehead and cheeks.

Facies antonina: Another face of leprosy, with alterations in the eyelids and the anterior eye.

Scaphoid face: From the Greek scaphos (boat-shaped, hollowed), this is the dish-like facial malformation of leprosy: protuberant forehead, prominent chin, depressed nose and maxilla.

Tetanus face: The risus sardonicus of tetanus (sardonic grin in Latin): open mouth with transversally tightened lips, resembling the smirk of Batman’s menace—the Joker.

Renal face: The face of chronic renal failure. Very similar to that of myxedema, except that the swelling is not due to accumulation of connective tissue but of water (hypoproteinemia).

Myxedematous face: Puffy and sallow facies from carotene accumulation, with coarse hair, boggy eyes, and dry, rough skin. The lateral third of the eyebrows is often missing.

Graves’ face: A typical and anxious-looking face, with exophthalmos and lid lag.

Acromegalic face: Coarse facial features, thick bones, prominent mandible, protruding supraciliary areas, large nose and lips. From the Greek akron (extremity) and megalos (large), it is characterized by enlargement of the body’s peripheral parts: head, face, hands, and feet.

Cushing’s face: A typical moon face: round, plethoric, oily, and ruddy. Acne, alopecia, and an increase in facial hair may also occur, as well as buffalo hump, buccal fat pads, striae, and central obesity.

Scleroderma face: The facies of progressive systemic sclerosis—sharp nose and skin so tightly drawn that wrinkles disappear. Most patients also have hyperpigmentation, with patches of vitiligo and a few telangiectasias. Mouth opening is often quite narrow.

Facies of lupus erythematosus: Malar and butterfly-like rash across the bridge of the nose.

Aortic face: The pale and sallow face of early aortic regurgitation (AR).

Corvisart’s face: The characteristic facies of advanced AR or full-blown congestive heart failure—puffy, cyanotic, with swollen eyelids, and shiny eyes. First described by Jean Nicolas Corvisart, physician to Napoleon, Laënnec’s teacher, and percussion zealot.

De Musset’s face (or sign): Bobbing motion of the head, synchronous with each heartbeat, and “diagnostic” of AR. First described in the French poet Alfred De Musset, it is neither sensitive nor specific, since it can also occur in patients with very large stroke volume (i.e., hyperkinetic heart syndrome) and even a massive left pleural effusion. A variant of De Musset’s can occur in tricuspid regurgitation, even though in this case the systolic bobbing tends to be more lateral because of regurgitation along the superior vena cava.

Mitral face: The acrocyanotic face of mitral stenosis (MS). Due to peripheral desaturation from low and fixed cardiac output, it typically affects the distal parts of the body (akros, distal in Greek): nose tip, earlobes, cheeks, hands, and feet. When MS evolves into right-sided heart failure and tricuspid regurgitation (from longstanding pulmonary hypertension), the skin turns sallow and often overtly icteric. This contrasts markedly with the cyanotic hue of the cheeks.

Parkinson’s face: The mask-like facies of Parkinson’s. It has a fixed and apathetic look.

Steinert’s face: The expressionless facies of myotonic dystrophy (Steinert’s disease)—frontal balding, cataracts, bilateral temporal muscle wasting, thin and beak-like nose, and tenting of the upper lip with tendency of the mouth to hang over.

Myasthenic face: The facies of myasthenia gravis, with sagging mouth corners and drooping eyelids (ptosis). Weak facial muscles result in paucity of expression (apathetic look).

Myopathic face: Seen in congenital myopathies. Similar to the myasthenic face—protruding lips, drooping eyelids, ophthalmoplegia, and a relaxation of facial muscles (Hutchinson’s face).

Battle’s sign: The classic traumatic bruise over/behind the mastoid process. Due to basilar skull fracture with bleeding into the middle fossa. Can present at times as blood behind the eardrum. Battle’s sign may occur on the ipsilateral or contralateral side of the skull fracture and can take as long as 3–12 days to appear. It has low sensitivity (2–8%) but 100% predictive value.

Raccoon eyes: Periorbital bruises from external trauma to the eyes, skull fracture, and intracranial bleeding. Raccoon eyes may also occur in amyloidosis as a result of capillary fragility. In this case, the leak is often precipitated by a Valsalva-mediated increase in central venous pressure. This can be involuntary, as the one induced by proctoscopy.

Hippocratic face: A tense and dramatic expression, with sunken eyes, sharp nose, hollow cheeks, fallen-in temples, open mouth, dry and cracked lips, cold and drawn ears, and a leaden complexion. First described by Hippocrates in protracted and terminal illnesses.

Facies adenoid: The long, open-mouthed, and dumb-looking face of children with adenoidal hypertrophy. The mouth is open (because upper airway congestion renders them obligatory mouth-breathers); the nares are narrow, and the nose is pinched. Although typically adenoidal, this facies can also occur in recurrent upper respiratory tract allergies. Features include (1) Dennie’s lines (horizontal creases under both lower lids, named after the American Charles Dennie); (2) nasal pleat (the horizontal crease above the tip of the nose, due to the recurrent upward wiping of nasal secretions by either palm or dorsum of hand—“the allergic salute”); and (3) allergic shiners (bilateral infraorbital shadows due to chronic venous congestion).

Rhinophyma: A typical facial feature, immortalized by Ghirlandaio in his 1480 Louvre painting of an old man with grandson and then involuntarily popularized by W.C. Fields’ potato nose.

Saddle nose: The congenital (or acquired) erosive indentation of the nasal bone and cartilage. Due to congenital syphilis, Wegener’s granulomatosis, and relapsing polychondritis.

Smoker’s face: A facies that is becoming increasingly familiar as a result of the tobacco epidemic. It is characterized by coarse features and a wrinkled, grayish, and atrophic skin that makes smokers look older. In fact, comparing smokers to nonsmokers may provide a much more effective prevention for teens (especially girls) than quoting the latest cancer statistics.

Table 1-2 Disease Processes Associated with a Typical Facies

Etiology	Facies	Disease
Congenital	Facies bovina	Greig’s syndrome
	Elfin face	Williams’ syndrome
	Cherubic face	Cherubism
	Hound-dog face	Cutis laxa
	Hurloid face	Hurler’s syndrome
	Morquio’s face	Morquio’s syndrome
	Potter’s face	Potter’s syndrome
Infectious	Facies leonina	Leprosy
	Facies antonina	Leprosy
	Scaphoid face	Leprosy
	Tetanus face	Tetanus
Endocrine-metabolic	Renal face	Chronic renal failure
	Myxedematous face	Myxedema
	Graves’ face	Graves’ disease
	Acromegalic face	Acromegaly
	Cushing’s face	Cushing’s syndrome
Rheumatologic	Scleroderma face	Progressive systemic sclerosis
Rheumatologic	Lupus face	Systemic lupus erythematosus
Cardiovascular	Aortic face	Aortic regurgitation
	Corvisart’s face	Aortic regurgitation
	De Musset’s face	Aortic regurgitation
	Mitral face	Mitral stenosis
Neurologic	Parkinson’s face	Parkinson’s disease
	Steinert’s face	Myotonic dystrophy
	Myasthenic face	Myasthenia gravis
	Myopathic face	Various
Traumatic	Battle’s sign	Basilar skull fracture
Traumatic	Raccoon eyes	Basilar skull fracture
Miscellaneous	Hippocratic face	Terminal illness
	Facies adenoid	Adenoids/chronic allergic rhinitis
	Rhinophyma	Various
	Saddle nose	Congenital syphilis/Wegener’s/polychondritis
	Smoker’s face	Tobacco

52 Who was Greig?

David Greig (1864–1936) was a Scottish surgeon and quite an interesting character. A graduate of Edinburgh University, he served in the army first in India and then in South Africa, where he participated in the Boer war. After returning to Scotland, he became supervisor at the Baldovan Institute for Imbecile Children and also curator of the Museum of the Royal College of Surgeons. Both these appointments fostered a peculiar fascination with skulls (either normal or abnormal) that lasted a lifetime and eventually gave him a shot at fame. He was so fascinated by them that he hoarded as many as 300 in his private collection. He wrote extensively about their deformities and even published a paper describing the skull characteristics of Sir Walter Scott. An avid reader, Greig also was interested in music and literature, eventually publishing a collection of his own poetry.

53 What is Lincoln’s sign?

One of the varieties of De Musset’s sign. The term refers to a picture of Abe Lincoln during the Civil War, showing the president quietly sitting with legs crossed and the tip of the raised foot fuzzy and indistinct. Since 19th-century photography required long exposure times, this clue suggested that Lincoln might have had aortic regurgitation, probably from Marfan’s syndrome, and that the fuzziness of the foot could have been due to its bobbing with each heartbeat.

54 Who was De Musset?

Alfred De Musset was a Frenchman, he was a poet, and he lived in the 19th century. Hence, he had all the major risk factors for acquiring syphilis, which he compliantly did. The eponymous sign was first noticed by De Musset’s brother (Paul) during a breakfast the two had in 1842 with their mother. When informed of his peculiar head motion, Alfred simply put forefinger and thumb to the chin, and calmly stopped the bobbing. Paul subsequently reported the event in a biography of his famous brother, and the rest is (medical) history. Incidentally, more than for this sign, De Musset is best known for his lover (George Sand) and for being eventually dumped by her for Frédéric Chopin—showing that Ms. Sand preferred tuberculous pneumonia to syphilitic aortitis.

E. Apparent Age

55 Which conditions make you look older than your stated age?

Other than a job in academic medicine, the most common reason is cigarette smoking. The next is chronic exposure to sunlight (especially its UV band), since this accelerates skin aging and wrinkling (actinic face). Progeria (Hutchinson-Gilford syndrome) is an exotic and much more ominous reason. It affects 1 in 8 million newborns, accelerating the aging process by 6–8 times. Symptoms begin around 18–24 months of age, with stunted growth, alopecia, and a small/bizarre face with receding jaw and pinched nose. Atherosclerosis and cardiovascular disease eventually follow, killing patients by their late teens. Cancer and dementia, however, are typically absent.

56 What is Werner’s syndrome?

A rare and autosomal recessive disease of DNA replication, resulting in premature aging and death by the late 40s/early 50s. Patients grow and develop normally until puberty; then they start aging rapidly, with loss of hair, wrinkling of skin, and early cataracts. Extremities are thin, trunk is thick, and the face has a characteristic “bird-like” look. Age-associated disorders (such as diabetes, heart disease, and cancer) are common and a frequent cause of death.

57 Which conditions make you look younger than your stated age?

Not many, unfortunately. Good genes, of course, always help. Yet, there are a few conditions that can provide a youthful look:

Hypogonadism and other endocrine disorders of developmental arrest or retardation

Panhypopituitarism is also associated with a youthful look, but a sallow complexion and many fine wrinkles.

Anorexia nervosa and some mental illnesses

Immunosuppressive agents for organ-transplant protection can do it, too.

Being mildly underweight also conveys an impression of youth and health, but this is probably more cultural and based on our ever-increasing obsession with thinness. In fact, when “consumption” from TB was still a major killer, being overweight was actually considered a sign of health. This is still the case in many parts of the world, where people’s main concern is not to lose weight, but to put food on the table at least once a day.

58 What is a toxic-looking patient?

One who is anxious, flushed, sweaty, febrile, and tachycardic with rapid, shallow respirations. Such patients need immediate attention, since they are often septic. Poisoning (such as salicylate intoxication), thyroid storm, psychotic crisis, or heat stroke can also present in this fashion.

F. Gait

59 Why is gait important?

Because gait disturbances are common, especially in the elderly, in whom they affect 15% of subjects older than 60, 25% of those older than 80, and half of all nursing home residents. Gait disturbances are also a risk factor for falls, and thus may contribute to hip fractures—the sixth leading cause of death in older patients. Moreover, by compromising independent ambulation they are often a reason for nursing home admission. Finally, they provide an augenblick diagnose (instant diagnosis).

60 What is the difference between stance and gait?

Stance is the position assumed by a standing person (from the French derivative of the Italian stanza). It is also one of the phases of ambulation. Gait is instead the individual’s ambulating style (from the Old Norse gata, path), which is often so unique to be recognizable from a distance. In fact, gaits say a lot not only about neuromuscular (patho)physiology, but also about mood (like depression), occupation, and even character. Contrast, for example, the graceful and elegant walk of Henry Fonda with John Wayne’s flamboyant and macho gait and Mae West’s sexy waddle.

61 What are the two principal forms of human gaits?

Walking and running. Although a person who is running may at times be fully airborne, a person who is walking always maintains at least one foot on the ground. When referring to “gait” in this chapter, we will refer to walking.

62 What are the phases of a normal gait cycle?

Stance and swing. Stance begins when one heel strikes the ground, and it lasts for the entire period during which that foot stays grounded. Hence, it is a weight-bearing phase. Swing is instead the interval between the lifting of that foot’s toes off the floor and the time the heel of the same foot strikes the ground again. Since during this period the foot is airborne, “swing” is a non–weight-bearing phase. Stance and swing make up a stride, which corresponds to the interval between the time one heel hits the floor until it strikes it again. Note that for 20–25% of the gait cycle the stance of the two legs overlaps, insofar as both feet are on the ground (double-limb support).

63 Which muscles contract during gait?

It depends. During stance, mostly the extensors contract: gluteus maximus early on, quadriceps in the middle, and plantar flexors (soleus and gastrocnemius) toward the end; during swing, instead, the flexors contract: iliopsoas (for hip), hamstrings (for knee), and tibialis anterior/toe extensors (for ankle).

64 What is the position of head, body, legs, and feet during gait?

The body is erect, the head straight, and the arms loose on each side; the feet are slightly everted, almost in line with each other; the internal malleoli come close to touching during walking; and steps are usually small and equal. During ambulation, the thorax rotates in a clock/counterclockwise direction (opposite the pelvic rotations), and the arms swing opposite to the leg movements.

65 How are stance and gait coordinated?

Through a highly sophisticated interplay of various structures, resulting in (1) sensory input (visual, proprioceptive, vestibular); (2) motor output (to muscles and joints); and (3) good integration (by various CNS centers). Hence, imbalance (and falls) usually results from failure of more than one of the following components:

Basal ganglia: For automatic movements, including the automatic swinging of the arms

Locomotor region of the midbrain: For initiating walking

Cerebellum: For maintaining proper posture and balance; also controls the major characteristics of movement, such as trajectory, velocity, and acceleration.

Spinal cord: For coordinating movements and relaying proprioceptive/sensory input from joints and muscles to the higher centers for feedback and autoregulation. Muscular tone must be high enough to resist gravity but low enough to allow movement.

Vision: For feedback on head and body movement in relation to the surroundings, which allows for automatic balance adjustments whenever surface conditions change. Vision is crucial in case of reduced input from other sensory systems (e.g., proprioceptive, vestibular, and auditory).

66 What are the two physiologic requirements of walking?

Equilibrium (the ability to assume an upright posture and maintain balance)

Antigravity support is provided by antigravity and postural reflexes in the spinal cord and brain stem that are responsible for maintaining full extension of hips, knees, and neck.

Locomotion (the ability to initiate and maintain rhythmic stepping—through propulsion and stepping)

Propulsion involves leaning forward and slightly to one side. This permits the body to fall at a certain distance before being checked by the leg support.

Stepping is a basic pattern of movement based on sensory input from the soles and body that is then integrated in the midbrain and diencephalus.

Both equilibrium and locomotion require proper and coordinated function of the musculoskeletal and nervous systems. Equilibrium maintains center of gravity and balance during the shifting of weight from one foot to the other. This is very important, since during walking the center of gravity remains outside the base of support 80% of the time. To compensate, the body uses reactive and proactive adjustments. The reactive ones deal with unpredictable upsets of balance and thus depend on sensory input (proprioceptive, vestibular, auditory, and visual). Proactive adjustments counteract instead perturbations caused by gait movements per se and thus rely on vision to predict potential causes of disequilibrium and implement appropriate avoidance strategies.

67 What is the impact of aging on gait?

It causes a greater sway while standing, slower postural support responses, a shorter and broader-based stride, reduced pelvic rotation and joint excursions, and a 10–20% reduction in velocity.

68 What are the four most common reasons for gait disturbance?

Pain

Immobile joint

Muscle weakness

Abnormal neurologic control

To separate them, always notice whether the disturbance is symmetric (suggesting faulty neurologic control, except for the spasticity of hemiplegia) or asymmetric (suggesting instead pain, a fixed joint, or muscle weakness) (Fig. 1-2 and Table 1-3).

Figure 1-2 Common types of gait abnormalities.

(From Swartz MH: Textbook of Physical Diagnosis, 3rd ed. Philadelphia, W.B. Saunders, 1997.)

Table 1-3 Major Causes and Types of Gait Disturbance

Mechanism	Gait Disturbance	Disease
Pain	Antalgic gait	Osteoarthritis hip, knee, ankle
Immobile joint	Fixed joint gait	Osteoarthritis; prolonged periods of plaster immobilization
Muscle weakness	Trendelenburg gait	Unilateral weakness of hip abductors
	Anserine gait	Bilateral weakness of hip abductors
	High steppage gait	Weakness of hip abductors
		Charcot-Marie-Tooth disease
		Foot drop (peroneal paralysis)
Abnormal neurologic control	Gait of spinal stenosis	Myelopathy (cervical spondylosis)
	Gait of spastic paraplegia	Scissor gait
	Ataxic gait/cerebellar gait	Ataxia (sensory or cerebellar)
	Apraxic gait	Apraxia (frontal lobe disease)
	Hemiplegic gait	Hemispheric stroke
	Parkinsonian gait	Parkinson’s disease