[Hypercarotenaemia in an infant].
BACKGROUND
Hypercarotenaemia is the consequence of high serum carotenoid levels, which are deposited in the stratum corneum and give a yellowish coloration to the skin. It can be distinguished from jaundice by the absence of colouring of the conjunctivae as well as orange discolouration of the palms and soles.


METHODS
We report a rare case of hypercarotenaemia in a child that began at the age of three months. Clinical signs and symptoms included yellowish discolouration of the skin, orange palms and soles, xerosis and pruritus. Hypercarotenaemia was confirmed by high levels of serum carotenoids. Serum vitamin A was normal. Dietary and drug-induced causes of hypercarotenaemia were excluded in this case, as well as other classical metabolic causes (renal insufficiency, malabsorption syndrome, diabetes, hypothyroidism). The child was placed on a low-carotenoids diet for six months, resulting in decreased serum carotenoid levels and regression of cutaneous signs and symptoms, especially pruritus.


CONCLUSIONS
Although pruritus has never been reported in isolated hypercarotenaemia it is a classical sign of hypervitaminosis A. The mechanism of pruritus is not understood in this instance since vitamin A levels were normal. This case report is also unusual in that no classical cause of hypercarotenaemia was found, as a result of which we concluded on a likely defect in beta-carotene 15, 15'oxygenase, an enzyme involved in vitamin A production.
Maruani
A
A
Université François-Rabelais, Tours, France. annabel-maruani@wanadoo.fr
Labarthe
F
F
Dupré
T
T
Le Bidre
E
E
Georgesco
G
G
Lorette
G
G
D002338:Carotenoids / Q000097:blood*; D003937:Diagnosis, Differential; D006801:Humans; D006986:Hypervitaminosis A / Q000175:diagnosis; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy; D011537:Pruritus / Q000209:etiology*; D012880:Skin Pigmentation; D050559:beta-Carotene 15,15'-Monooxygenase / Q000172:deficiency
D002338:Carotenoids; C493358:BCO1 protein, human; D050559:beta-Carotene 15,15'-Monooxygenase