Maruani A, Labarthe F, Dupré T, Le Bidre E, Georgesco G, Lorette G
Université François-Rabelais, Tours, France.
Ann Dermatol Venereol. 2010 Jan;137(1):32-5. doi: 10.1016/j.annder.2009.10.177. Epub 2009 Nov 7.
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.
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.
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.
高胡萝卜素血症是血清类胡萝卜素水平升高的结果,类胡萝卜素沉积在角质层,使皮肤呈现淡黄色。它可通过结膜无着色以及手掌和脚底无橙色变色与黄疸相区分。
我们报告一例罕见的儿童高胡萝卜素血症病例,该病始于三个月大时。临床体征和症状包括皮肤淡黄色变色、手掌和脚底橙色、皮肤干燥和瘙痒。血清类胡萝卜素水平升高证实了高胡萝卜素血症。血清维生素A正常。该病例排除了高胡萝卜素血症的饮食和药物诱导原因,以及其他经典代谢原因(肾功能不全、吸收不良综合征、糖尿病、甲状腺功能减退)。该儿童接受了六个月的低类胡萝卜素饮食,导致血清类胡萝卜素水平降低,皮肤体征和症状消退,尤其是瘙痒。
尽管孤立性高胡萝卜素血症从未有过瘙痒的报道,但它是维生素A过多症的经典体征。由于维生素A水平正常,在这种情况下瘙痒的机制尚不清楚。该病例报告也不寻常,因为未发现高胡萝卜素血症的经典病因,因此我们推断可能是β-胡萝卜素15,15'-加氧酶存在缺陷,该酶参与维生素A的生成。