43
Nutritional Disorders
Malnutrition
• Malnutrition encompasses both deficiencies and excesses (e.g. obesity) (Fig. 43.1; Tables 43.1 and 43.2).
Table 43.1
Malnutrition-deficiency syndromes with mucocutaneous manifestations.
* Wernicke’s encephalopathy characterized by ophthalmoplegia, ataxia, confusion.
** Korsakoff’s syndrome characterized by peripheral neuropathy, memory loss, confabulation.
† Leigh’s syndrome characterized by subacute necrotizing encephalomyopathy; anorexia, weakness, constipation; congestive heart failure; low serum or plasma thiamine levels.
‡ Elevated serum homocysteine and methylmalonic acid levels are more reliable indicators of B12 deficiency and are useful to obtain if B12 deficiency is strongly suspected but serum levels of B12 are low-normal.
Table 43.2
Malnutrition-excess syndromes with mucocutaneous manifestations.
| Excess Syndrome | Mucocutaneous Features | Systemic Features |
| Obesity | Plantar hyperkeratosis Acanthosis nigricans Acrochordons Striae distensae Intertrigo Frictional hyperpigmentation Hyperhidrosis Stasis dermatitis Leg ulcers, mostly venous > arterial Lipodermatosclerosis, including the pannus Stasis mucinosis | Body mass index >30 Hypertension Diabetes and insulin resistance Gastroesophageal reflux disease Atherosclerotic cardiovascular disease Steatorrhea |
| Vitamin A | Mucocutaneous findings similar to patients on oral retinoids Xerotic, rough, pruritic, and scaly skin Xerotic cheilitis Diffuse alopecia | Anorexia, weight loss, lethargy Elevated liver enzymes Painful swellings in limbs due to bony changes Radiographic bone changes, e.g. skeletal hyperostosis, extraspinal tendon and ligament calcification |
| Beta carotene (the natural pro-vitamin of vitamin A) Carotenemia | Carotenoderma (Fig. 43.11) – orange-yellow skin pigmentation primarily in sebaceous gland-rich areas (forehead, nasolabial fold) and in areas with a thicker stratum corneum (palms, soles) Differentiated from jaundice, which has prominent yellow discoloration of the sclerae and mucosae | |
| Copper Acquired – rare Genetic (Wilson’s disease) – autosomal recessive; mutation in gene that encodes a copper transporting P-type ATPase | Genetic Kayser–Fleischer corneal rings | Genetic Liver disease and cirrhosis Dysarthria, dyspraxia, ataxia, and parkinsonian-like extrapyramidal signs |
| Iron Acquired – numerous blood transfusions; excess intake Genetic (type I hemochromatosis) – autosomal recessive; mutation in gene (HFE) that regulates absorption of iron; two most common mutations of HFE gene are C282Y and H63D | Generalized hyperpigmentation (bronzing) | Chronic fatigue Diabetes Liver disease, cirrhosis Arthritis Cardiac disease Impotence Hypothyroidism |
• Primary or exogenous: related to the ingestion of food.
Marasmus (Protein-Energy Malnutrition)
• Affects infants, children, and adults (Fig. 43.2).
Fig. 43.2 Marasmus. A This child is emaciated and there is both hyperpigmentation and desquamation of the skin. B Multiple purpuric lesions are seen. Courtesy, Ramón Ruiz-Maldonado, MD.
• Is common in the setting of severe food deprivation, often in association with recurrent infections.
Kwashiorkor (Protein or Wet Malnutrition)
• Most commonly affects weaning children, who present with edema (Fig. 43.3) and are at 60–80% of expected body weight.
