CASE PRESENTATION

Mary Palomaki

May 19, 2010

Chief Complaint

• 16 month male with orange skin

History of Present Illness• 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

• 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

• 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– 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

Plant Cell

Carotene

In mucosal cells:

B-carotene-->2 molecules retinol (Vitamin A metabolite)

B-carotene 15, 15’dioxygenase

Excretion via colon, epidermis

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

– 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

• Poor wound healing

• Bleeding gums

• Petechiae

• Ecchymosis

• arthralgia

• Vitamin C deficiency

• (SKURVY)

Pellagra--Niacin Deficiency

• Diarrhea

• Dermatitis

• Dementia

• Anorexia

• Dry/cracking skin

• Hepatosplenomegaly

• Long bone pain

• Alopecia

• Vitamin A toxicity

Bitot Spot

Vitamin A Deficiency

• Photophobia

• Xerophthalmia

• Keratomalacia

• Epiphyseal bone formation

• Defective tooth enamel

• Retarded growth

• Fatigue

• Anorexia

• Irritability

• Sometimes

• Edema

• Sometimes

• No edema

Beri-Beri(Thiamine)• Constipation

• Headache

• Insomnia

• Polyneuritis

• Elevated pyruvic

• acid

Photophobia, blurred vision

Riboflavin (B2) deficiency

• 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)

• Irritability

• Convulsions

• Hypochromic anemia

• Peripheral neuritis

Risk B6 deficiency

• Oral contraceptives

• Isoniazid

• Penicillamine

• Corticosteroids

• Anticonvulsants

• dialysis

Rickets

• 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): 345-53

• Karthik, SV et al. Carotenemia in infancy and its association with prevalent feeding practices. Pediatric Dermatology 2006;23:571-573