Case 2: Persistent skin discolouration in a child with autism spectrum disorder

A three-year-old boy with autism spectrum disorder (ASD) presented with a two-week history of intermittent non-productive cough. There was no history of fever, rash, rhinorrhea, eye discharge, asthma or allergies, and no sleep difficulties were identified. In addition, there was no history of coughing, choking or respiratory distress when eating. His respiratory, abdominal, cardiovascular and nervous system examinations were normal. There was no evidence of neurocutaenous lesions, and his weight and height were in the 50th percentile. His hands, feet and entire body exhibited an orange hue (Figures 1 and 2). Further examination revealed pink, moist and anicteric mucous membranes. There was no clinical evidence of liver pathology, spider angiomas, tremor, pruritus, palmar erythema or hepatomegaly. His stools were orange in colour and his urine was clear. On further dietary history, he was described as a ‘picky eater’. A 24 h dietary recall included milk, Cheerios® (General Mills, USA), hot dog (only), lettuce and juice. His diet was restricted in food variety. He drank 1.36 L per day of a prepackaged fruit juice, which comprised apple, grape, carrot, pear, lettuce, beet, parsley, watercress and spinach concentrates. His diagnosis became apparent. Orange discolouration of the child's hand. The examiner's hand is the comparator Orange discolouration of the child's right foot. The examiner's hand is the comparator Hypercarotenemia was diagnosed. Discontinuation of the pre-packaged fruit juice was recommended and referral to a feeding specialist was initiated. The patient's skin discolouration persisted. Unconvinced of the diagnosis, his parents requested blood investigations to confirm the diagnosis. The mother was concerned that her child had a liver pathology based on information garnered from the Internet. Blood investigations revealed an elevated beta-carotene level (13.8 µmol/L; normal 0.9 µmol/L to 3.7 µmol/L). There was no laboratory evidence of liver pathology. Hypercarotenemia is identified as a benign dermatological presentation of elevated serum beta-carotene levels. Dietary-induced hypercarotenemia is associated with an increased intake of carotene-rich food such as carrots, mangoes, kale, pumpkin, spinach, lettuce and broccoli, and is commonly reported in toddlers and preschoolers. It commonly manifests as yellow discolouration of the nasolabial folds, palms and soles (1). Carotene is the primary dietary source of dietary vitamin A. However, an elevated or toxic level of vitamin A is uncommon in the presence of hypercarotenemia. The orange-yellow skin discolouration associated with hypercarotenemia is believed to mimic jaundice. The lack of scleral icterus, stigmata of liver pathology and constitutional symptoms are discriminatory factors. Hypercarotenemia is associated with anorexia nervosa and should prompt the clinician to perform a detailed dietary history. Differential diagnoses include diabetes mellitus, hypothyroidism, liver disease, renal disease (nephrotic syndrome), inborn errors of metabolism and hyperlipidemia. Routine laboratory investigations are usually not indicated if hypercarotenemia is suspected. Laboratory evidence of an elevated serum beta-carotene level in the presence of a normal liver function test confirms the diagnosis. Reduction in beta-carotene-rich foods will lead to resolution of the discolouration. There is limited evidence regarding the long-term outcome of hypercarotenemia; however, the association between beta-carotene and lung cancer in adult smokers has been documented. Although identified as a benign condition, current research limits our ability to be definitive. In our case, even when reassured, the parents were not confident about the diagnosis. This is, in part, to the slow resolution of the skin discolouration, which may take months to resolve after cessation of beta-carotene intake. The present case highlights feeding challenges commonly associated with ASD, which are reported in up to 80% of children with ASD (2). A restricted diet, with children consuming fewer vegetables and fruits, is a common presentation. The classic dietary history of excessive intake of orange-coloured fruits or vegetables may be absent in these children. Clinicians should also be aware that juices may contain high levels of beta-carotene-rich fruit and vegetables. In our case, the initial dietary history was inadequate and highlights the need for a detailed dietary history in children with ASD who are at a greater risk for feeding challenges. Our patient's carbohydrate intake was 158 g per day from juice intake only. The recommended dietary allowance for carbohydrates is 130 g per day for children. Excess sugar intake is associated with heart disease, diabetes, high blood cholesterol and dental caries. The clinician should take the lead in educating parents about adverse health effects associated with excessive and inadequate intake of various micronutrients and carbohydrates. The presentation of feeding difficulties can be masked in a common and possibly benign presentation such as hypercarotenemia. Routine evaluation of a child's diet is recommended to identify atypical feeding practices. This practice should start from early childhood and extend into adulthood because feeding challenges among individuals with ASD are highly resistant to behavioural intervention. Therefore, early identification and involvement of a feeding specialist is recommended. Normal growth indexes, such as weight, height and body mass index, may not be sensitive in detecting atypical feeding practices and dietary intake among children diagnosed with ASD. Diet-induced hypercarotenemia is a benign condition indicative of excessive intake of beta-carotene-rich foods and may mimic jaundice. Diabetes mellitus, renal, liver, lipid and thyroid pathology should be ruled out by history. Laboratory evidence to rule out hypercarotenemia should be initiated if one suspects a nondietary etiology. A dietary history and examination for peripheral stigmata of micronutrient deficiencies or excess is recommended in children diagnosed with ASD due to the prevalence of feeding challenges. Normal anthropometry measurement is not a marker of adequate dietary intake in children diagnosed with ASD.

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