Endocrine And Metabolic Diseases

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A careful examination of the face will detect patients with acromegaly, thyroid disease, Cushing's disease, amyloidosis, gout, and ochronosis.

Acromegaly

Acromegaly is detected by looking at the head and the hands. These patients have a lantern jaw, coarsening of the facial features (best determined by comparing old photographs), widely spaced teeth, macroglossia, and spade-shaped hands (Fig. 8) Acromegaly is associated with hypertension of the low-renin type (89). There is an increased incidence of premature coronary atherosclerosis in acromegaly because of coexistent diabetes and hypertension.

Hyperthyroidism

Patients with hyperthyroidism are often detected by looking at the face. There may be lid lag, exophthalmos, ophthalmoplegia, and temporal muscle wasting. Other features include palmar erythema, warm moist palms, fine tremor of the outstretched hands, proximal myopathy, pretibial myxedema, and an enlarged thyroid (Fig. 9). The patient may appear restless and show evidence of weight loss by wearing loose-fitting clothes.

Acute Acromegaly
Fig. 8. Acromegaly: 40-yr-old man admitted to the hospital with an acute anterior wall myocardial infarction. He had a lantern jaw, coarse facial features, (A) spade-like hands, and (B) widely spaced teeth.

Hyperthyroidism may be associated with a high-output failure, atrial fibrillation, or a cardiomyopathy (90). Some elderly patients with hyperthyroidism may not have the above eye or skin changes, but present with heart failure or atrial fibrillation (apathetic hyperthyroidism).

Myxedema

Peri-orbital puffiness, brittle hair, dry skin, slowing of cerebration, low husky voice, macroglossia, and delayed relaxation of heel reflexes are the main clinical features of myxedema (Fig. 10) Thyroid-replacement therapy may lead to a striking improvement of the facies. Myxedema is associated with pericardial effusion, which rarely leads to cardiac tamponade (91).

Fig. 9. Hyperthyroidism: 60-yr-old female with lid retraction, exophthalmos, and facial muscle wasting.

Fig. 10. Myxedema: 80-yr-old female admitted in heart failure. She had stopped taking her thyroid medicine a year before. She has a pasty face, some periorbital puffiness, dry skin, and coarse hair. Thyroid-stimulating hormone level was 100 pU/mL.

Cushing's Disease

Moon facies, buffalo hump, truncal obesity with thin limbs, and red abdominal striae are the usual features of Cushing's disease. It is associated with hypertension in 80% of cases (92).

Primary or hereditofamilial amyloidosis may involve the deposition of an amyloid protein consisting of light-chain immunoglobulins in the heart, skin, or tongue (93). Patients with amyloidosis may have waxy yellow translucent papules and plaques on the m

Fig. 10. Myxedema: 80-yr-old female admitted in heart failure. She had stopped taking her thyroid medicine a year before. She has a pasty face, some periorbital puffiness, dry skin, and coarse hair. Thyroid-stimulating hormone level was 100 pU/mL.

Amyloidosis

Fig. 11. Amyloidosis: 60-yr-old man with (A) large tongue and (B) brown maculopapular lesions on the back. He was admitted in heart failure because of a restrictive cardiomyopathy. Echocardiography showed biventricular hypertrophy and a sparkling appearance to the myocardium. He had biopsy-proven amyloidosis.

Fig. 11. Amyloidosis: 60-yr-old man with (A) large tongue and (B) brown maculopapular lesions on the back. He was admitted in heart failure because of a restrictive cardiomyopathy. Echocardiography showed biventricular hypertrophy and a sparkling appearance to the myocardium. He had biopsy-proven amyloidosis.

eyelids, naso-labial folds, and mouth (94). Purpura frequently occurs in these areas after minor trauma (94). The tongue may be diffusely or irregularly enlarged (94). Restrictive cardiomyopathy is often seen in amyloidosis (93,94) (Fig. 11).

Hemochromatosis

(See General Observations, Skin Color on p. 364.)

Gout

The patient may have gouty tophi (urate deposits) on the ears or the small joints of the hand. Rarely, urate deposits may involve the heart valves or the conducting system, causing complete heart block (95). Patients with gout, via its association with elevated serum uric acid levels, have a higher incidence of hypertension (96) and possibly coronary artery disease (97).

Alkaptonuria (Ochronosis)

Alkaptonuria (Ochronosis)is a defect in tyrosine metabolism in which homogentisic acid is deposited in the skin, joints, ear, and the mitral and aortic valves. The skin on the ears gradually darkens, and the fingernails show a blue-gray discoloration. Aortic stenosis is the most significant lesion associated with it (98).

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