CASE PRESENTATION
Mary Palomaki
May 19, 2010
Chief Complaint
• 16 month male with orange skin
History of Present Illness
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Orange skin x 3 weeks
Tugging on right ear
Fever x 2 days, Tmax 102 PR
Denies: change in activity, cough, runny
nose, rash, vomit, diarrhea, travel, sick
contacts
• Normal PO
• Normal Stool
– Normal in color, consistency
• Normal UOP
– Normal color
Diet
• 1 jar carrots/day
• 1 jar mixed vegetables/day
• Whole milk
Birth History
• Full Term
• NSVD
• No complications
Past Medical History
• Developmental Delay
• Delayed Motor: Sit with support, no
crawling, no walking
• Delayed Speech: no words
Family History
• No thyroid disorders
• No autoimmune disorders
• No genetic disorders
Vaccines
• Delayed: No 1 year vaccines
Physical Exam
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VS: T: 101.3 HR: 120 RR 30
O2Sat 100% RA
Gen: awake, alert
HEENT: NC, Perrl, EOMI, anicteric, mmm,
oropharynx: no lesion, no erythema, R TM: +
erythema, +bulging, L TM: dull
• CV: S1, S2, no murmur
Physical Exam 2
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Resp: b/l clear to ausculatation
ABD: BS+, soft, no distention, no HSM
Ext: FROM x 4, cap refill <2s
SKIN: orange/yellow tinged body, extremities,
>>pigmentation palms, soles
• GU: b/l descended testicles, normal phallus
• Neuro: mild decreased tone, 2+ reflexes
Differential Diagnosis
Differential Diagnosis
• Jaundice
• Carotenemia
• Excess ingestion/percutaneous absorption of
chemicals
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Quinacrine
Mepacrine
Dinitrophenol
Saffron
Tetryl
Picric acid
• Inborn errors of metabolism
Carotenemia
• Increased number of carotinoids in the
epidermis
• Carotinoids are plant pigments
– Act as antioxidants
– Cell growth
– Immune function
• Carotene is hydrocarbon part of the
carotinoid
• Carotene from plants is primary dietary
source of vitamin A
Foods Rich in Carotene
• Asparagus, broccoli, carrots,
cucumbers, lettuce, spinach, squash,
sweet potatoes, apples, oranges,
peaches, prunes, tomatoes, yams,
butter, egg yolk, milk, yellow corn
• Baby foods and pureed foods allow
greater absorption of carotene
– Cell wall is broken during puree process,
releasing carotene
Carotene Metabolism
Carotene
Plant Cell
Excretion via
colon,
epidermis
In mucosal cells:
B-carotene-->2 molecules
retinol (Vitamin A metabolite)
B-carotene 15, 15’dioxygenase
Carotene
• Accumulates in areas of concentrated
sweat glands
– Palms
– Soles
– Nasolabial folds
• Is present in high concentration in
breast milk
Carotenemia
• Mostly dietary
• Associated with
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Hypothyroidism
Diabetes Mellitus
Liver disease
Kidney disease
Anorexia Nervosa
• Familial
– Decrease amount of B-carotene 15,
15’dioxygenase
Diabetes Mellitus
• Most diabetics have elevated serum
concentrations of B-carotene
• Only 10% show skin color changes
• Some diabetics have impaired
conversion of B-carotene to retinol
Hypothyroidism
• Decreased conversion of carotene to
Vitamin A
• Hyperlipidemia and
hypercholesterolemia exacerbate this
effect
Anorexia Nervosa
• Altered lipid metabolism increases
cholesterol levels, decreasing
metabolism of carotene
Carotene Absorption
• Determined by type of food
– Pureed foods
• Manifest on skin 2 weeks after elevated
serum levels of carotene
History
• Yellow/orange skin
• No change in activity
• No associated symptoms
Diagnosis and Work Up
• Clinical Diagnosis
• No labs indicated
Treatment
• None
• Anxious parents can be advised to
avoid carotene containing foods
Complications
• None
• Serum levels greater than three times
the upper limit of normal do not cause
hypervitaminosis A
– Conversion of carotene to Vitamin A is
slow
NAME THAT
DEFICIENCY/
TOXICITY
• Pharyngeal ulcers
• Impaired immunity
• Megaloblastic anemia
• Folate deficiency
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Poor wound healing
Bleeding gums
Petechiae
Ecchymosis
arthralgia
• Vitamin C deficiency
• (SKURVY)
Pellagra--Niacin Deficiency
• Diarrhea
• Dermatitis
• Dementia
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Anorexia
Dry/cracking skin
Hepatosplenomegaly
Long bone pain
Alopecia
• Vitamin A toxicity
Bitot Spot
Vitamin A Deficiency
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Photophobia
Xerophthalmia
Keratomalacia
Epiphyseal bone formation
Defective tooth enamel
Retarded growth
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Fatigue
Anorexia
Irritability
Sometimes
Edema
Sometimes
No edema
Beri-Beri
(Thiamine)
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Constipation
Headache
Insomnia
Polyneuritis
Elevated pyruvic
acid
Photophobia, blurred vision
Riboflavin (B2) deficiency
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Burning, itching of eyes
Corneal vascularization
Poor growth
“Ariboflavinosis”
Phototherapy breaks down riboflavin
– Careful with treatment of neonatal jaundice
Patient eats diet of tomatoes
and juice
Lycopenemia
• Lycopene found in tomatoes, beets, chili
peppers
• Turns skin reddish color, with excessive
ingestion
• Harmless condition
• Resolves without treatment
Oxaluria
Pyridoxine deficiency (B6)
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Irritability
Convulsions
Hypochromic anemia
Peripheral neuritis
Risk B6 deficiency
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Oral contraceptives
Isoniazid
Penicillamine
Corticosteroids
Anticonvulsants
dialysis
Rickets
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FTT
Protruding abdomen
Muscle weakness
Fractures
Craniotabes
Frontal bossing
Craniosynostosis
Harrison groove
Scoliosis
Valgus/varus
deformities
• Windswept
deformity
• Leg pain
• Hypocalcemic
symptoms:
– Tetany
– Seizures
– Stridor from
laryngospasm
Windswept deformity
References
• Pitette, RD. Carotenemia. Web.
Emedicine.com 16 June 06.
• Nelson’s Textbook of Pediatrics. Ch 49.
• Tyler, I, Wiseman MC, Crawford TR.
Cutaneous manifestations of eating
disorders. J Cutan Med Surg 2002 6(4): 34553
• Karthik, SV et al. Carotenemia in infancy and
its association with prevalent feeding
practices. Pediatric Dermatology
2006;23:571-573