boards’ fodder Nutritional Deficiencies Kristina Burke, MD, and Erin Adams, MD
Nutritional Deficiency Setting Findings Miscellaneous Fat Soluble Vitamins Vitamin A Deficiency Diseases/states of fat - Skin: Toad skin, keratotic papules over - Increased mortality from inflammatory Phrynoderma malabsorbtion (Crohn’s, celiac, extremities, back, abdomen and buttocks. disease of gut and lungs CF, cholestatic liver dz, bypass - Children with measles (rubeloa) require surgery, pancreatic insufficiency) - Eyes: nyctalopia, keratomalacia, xerosis Vit A supplementation corneae, xerophthalmia, white conjunctival - Visual symptoms resolve quickly with spots (Bitot spots) supplementation, corneal scarring is permanent Vitamin A excess Kids at higher risk; megavitamin Hair loss, exfoliative cheilitis, generalized - Fatigue, myalgia, depression supplementation; patients with exfoliation, loss of eyebrows, bone growth - Stop all Vit A supplementation if on liver disease or on dialysis retardation, pseudotumor cerebri synthetic retinoid Vitamin D deficiency Diseases/states of fat Alopecia - Kids – rickets malabsorbtion; - Adults – osteomalacia Anticonvulsants; elderly; patients - Schimmelpenning syndrome – with photosensitive disorders Vit D-resistant -rickets Vitamin D excess Continued supplementation No skin findings - Hypercalcemia/calciuria, anorexia, vomiting, diarrhea Vitamin E Peripheral edema, neuromyopathy Vitamin K deficiency Diseases/states of fat Purpura, hemorrhage, ecchymosis. - Coumarin, cephalosporins, salicylates malabsorption; biliary disease, inhibit Vit K epoxide reductase cholestasis of pregnancy or liver Decreased factors II, VII, IX, and X - In adults, usually synthesized in disease; adequate amounts by gut flora Drugs: coumarin, cephalosporins, cholestyramine, salicylates Water Soluble Vitamins Vitamin C deficiency Alcoholics Four H’s: Hemorrhagic signs, hyperkeratosis - Symptoms develop ~3mo after Scurvy Restricted diets of hair follicles, hypochondriasis, deficiency begins Psychiatric patients hematological abnormalities. Specifically, - Pseudoparalysis (due to subperiosteal perifollicular petechiae, hemorrhagic gingivitis, hemorrhage) epistaxis, corkscrew hairs - Delayed wound healing Vitamin B1 deficiency Alcoholics Dry beriberi: edema and red, burning tongue, Wet beriberi – high output cardiac failure (Thiamine) Polished-rice diets nervous system defect (peripheral neuropathy, Beriberi Pregnancy (esp hyperemesis Wernicke-Korsakoff syndrome), gravidarum) Vitamin B2 deficiency Alcoholics, acute boric acid Oro-oculo-genital syndrome: seb derm-like - Dramatic response to riboflavin (Riboflavin) ingestion, hypothyroidism, changes and fissuring of perioroficial and supplementation neonatal phototherapy, genital areas, perleche, cheilosis, depapillated Kristina Burke, MD, is chlorpromazine glossitis (magenta tongue), conjunctivitis Vitamin B3 deficiency Alcoholics, corn-rich diet, 3 D’s: dermatitis, diarrhea, dementia. - Abdominal pain, weakness, diarrhea, a third year resident at (Niacin) carcinoid tumors, Hartnup Dermatitis: photosensitive over dorsal hands, depression Walter Reed National Pellagra disease, GI disease (Crohn’s), arms, face, neck (Casal’s necklace); sulfur - Can also result from tryptophan Military Medical Center psych (anorexia) flakes over nose, copper hue to affected skin, deficiency (precursor to niacin) Meds: isoniazid, 5-FU, hyperpigmentation - Rapid improvement (~24hrs) of in Bethesda, Md. azathioprine, ethionamide, symptoms once supplementation started protionamide, pyrazinamide Vitamin B6 deficiency Uremia, cirrhosis Seborrheic dermatitis-like, atrophic glossitis, - Somnolence, confusion, neuropathy. (Pyridoxine) Drugs: isoniazid, penicillamine, angular cheilitis conjunctivitis, intertrigo. hydralazine, cycloserine Occasionally pellagra-like. Vitamin B12 deficiency Malabsorption: decreased Hyperpigmentation esp in flexures, palms, - Weakness, parasthesias, ataxia (cyanocobalamin) gastric intrinsic factor (pernicious soles, nails. Tongue smooth red, atrophic - Liver has large body stores, deficiency anemia), gastrectomy, distal ileum and painful develops 3-6 years after GI abnormalities resection, achlorhydria - Megaloblastic anemia Drugs: metformin, antacids Folic Acid (Vit B9) Hyperpigmentation, glossitis, cheilitis - Megaloblastic anemia deficiency - Neural tube defects Biotin deficiency Genetic: deficiency of Alopecia, periorificial with patchy red, eroded - Limb parasthesias, weakness, holocarboxylase synthetase or lesions of face and groin, conjunctivitis, depression, lethargy biotinidase secondary infections (candida). Findings - Skin lesions resolve rapidly w/ Acquired: short gut, similar to zinc deficiency and essential fatty supplementation, neurologic damage Erin Adams, MD, is a malabsorbtion, avidin from acid deficiency may be permanent egg whites staff dermatologist at Zinc deficiency Genetic: acrodermatitis Pustular and bullous acral and periorificial - Consider this in an infant with chronic Walter Reed National enteropathica (defect in intestinal dermatitis, angular chelitis, stomatitis, diaper rash and diarrhea Military Medical absorbtion of zinc – zinc periungual scaling, nail dystrophy, alopecia, - Check Alk Phos (zinc dependent transporter SLC39A4 mutation) diarrhea enzyme - can be low) Center and also Acquired: high-fiber foods academic staff (phytate), low maternal milk zinc for the National levels, alcoholism, HIV Capital Consortium Copper deficiency Genetic: Menkes kinky hair Hair: pili torti, monilethrix, trichorrhexsis - Tyrosinase is copper dependent Dermatology disease (XLR, mutations in ATP7A nodosa Residency Program. copper transporting APTase) Diffuse pigmentary dilution Acquired: rare, malnutrition, Failure to thrive, lethargy zinc excess
irinections DResidency p. 1 • Summer 2013 boards’ fodder Nutritional Deficiencies (cont.) Kristina Burke, MD, and Erin Adams, MD
Nutritional Deficiency Setting Findings Miscellaneous Water Soluble Vitamins Copper excess Genetic: Wilson dz (AR, Kayser-Fleischer rings (copper deposition - Penicillamine therapy may precipitate mutation in ATB7B copper in Descemet’s membrane), liver disease, elastosis perforans serpiginosa transporter) neurological findings Acquired: excessive intake Iron deficiency Hemorrhage, blood loss Pallor of mucous membranes, koilonychia, - Plummer-Vinson syndrome: microcytic glossitis (smooth, atrophic tongue), angular anemia, dysphagia (esophageal web), cheilitis, telogen effluvium glossitis in middle-aged women Iron Excess Genetic: Hemochromatosis Gray to brown mucocutaneous - Tetrad: cirrhosis, diabetes, (mutation in HFE gene C282Y and hyperpigmentation hyperpigmentation and heart failure H63D) - Avoid Vit C supplementation and raw Acquired seafood (V. vulnificans and Yersinia infections) Selenium deficiency Parenteral nutrition Skin hypopigmentation and white nails - Cardiomyopathy, muscle pain, weakness (pseudoalbinism) - Needed for glutathione peroxidase (protective against oxidative stress) Essential Fatty acid Low birth-wt infants, parenteral Generalized xerosis, widespread erythema, - Eicosatrienoic acid-to-arachidonic deficiency nutrition, inflammatory bowel weeping intertrigenous eruption, hair lightens acid ratio > 0.4 = diagnostic disease, intestinal surgery - EFA’s constitute 13-30% of skin fatty acids Calorie deficiency Protein-energy malnutrition Skin: dry, wrinkled loose, hyperpigmentation Marasmus Also, malignancies, HIV, and desquamation, excess of lanugo-like restrictive diets hair, “Monkey facies”: loss of buccal fat pad, purpura Protein deficiency Rice-based diets, extensive Hair: dry, hypopigmented, “flag sign” - Edema and potbelly Kwashiokor GI surgeries, protein-loosing Skin: desquamation, hypopigmented in areas - Mental status changes enteropathies of friction, “flaky paint,” “mosaic skin.” Carotenemia Too many carrots (squash, Orange-yellow discoloration prominent pumpkins, spinach, etc…) in areas w/ abundant sebaceous glands Hypothyroidism (nasolabial folds/forehead), also palms & soles Lycopenemia Too many tomatoes, beets, and Reddish discoloration of skin chili beans
Memory Tool for B-vitamins: The – B1 (Thiamine) Rich – B2 (Riboflavin) Never – B3 (Niacin) Pay – B6 (Pyridoxine) Cash – B12 (Cyanocobalamin)
References: Bolognia JL, Jorizzo JL, Rapini RP, editors. Bolognia Textbook of Dermatology. 2 nd ed. Spain: Mosby Elsevier publishing; 2008: chap 51. James WD, Berger TG, Elston DM, eds. Andrews’ Diseases of the Skin: Clinical Dermatology . 11th ed. Philadelphia, Pa: Saunders Elsevier; 2011: chap 22.
irinections DResidency p. 2 • Summer 2013