[Elastosis perforans serpiginosa with vitamin A deficiency in a child with trisomy 21]

Elastosis perforans serpiginosa frequently occurs in trisomy 21. Usually no cause is found. We report a case in which vitamin deficiency may have contributed to the development of skin lesions.

A 11-year-old girl with trisomy 21 developed papulokeratosic eruptions with a linear serpiginous distribution, predominantly involving the lower limbs. On ultrastructure examination, numerous elastic fibers penetrated the epiderma and the baseline membrane had disappeared. The patient also had a totally patent atrioventricular canal with hypoplasia of the left ventricle and cardiac liver. Serum vitamin A level was low (0.56 mumol/l, normal > 1.55). Acitretine was prescribed at the dose of 0.5 mg/kg/day but had to be stopped 2 months later due to elevated liver enzyme levels despite a clear clinical improvement.

This association between elastosis perforans serpiginosa and vitamin A deficiency, observed here in a child with trisomy 21, has never been reported by others. Vitamin A deficiency might aggravate the skin lesions. In our case, there was probably a relationship between the vitamin A deficiency and the cardiogenic liver disease. The keratoregulatory effect of vitamin A on elastic tissue is less well known. Treatment with retinoids provided clinical improvement but had to be stopped due to hepatotoxicity. Parenteral vitamin A would be an interesting alternative but the risk of side effects would theoretically be greater than with oral retinoids.