ELASTOSIS PERFORANS SERPIGINOSA WITH VITA MIN-A-DEFICIENCY

Introduction. Elastosis perforans serpiginosa frequently occurs in tri somy 21. Usually no cause is found. We report a case in which vitamin deficiency may have contributed to the development of skin lesions. Ca se report. A 11-year-old girl with trisomy 21 developed papulo-keratos ic eruptions with a linear serpiginous distribution, predominantly inv olving the lower limbs. On ultrastructure examination, numerous elasti c fibers penetrated the epiderma and the baseline membrane had disappe ared. The patient also had a totally patent atrioventricular canal wit h hypoplasia of the left ventricle and cardiac liver. Serum vitamin A level was low (0.56 mu mol/l, normal > 1.55). Acitretine was prescribe d at the dose of 0.5 mg/kg/day but had to be stopped 2 months later du e to elevated liver enzyme levels despite a clear clinical improvement . Discussion. This association between elastosis perforans serpiginosa and vitamin A deficiency, observed here in a child with trisomy 21, h as never been reported by others. Vitamin A deficiency might aggravate the skin lesions. In our case, there was probably a relationship betw een the vitamin A deficiency and the cardiogenic liver disease. The ke ratoregulatory effect of vitamin A on elastic tissue is less well know n. Treatment with retinoids provided clinical improvement but had to b e stopped due to hepatotoxicity. Parenteral vitamin A would be an inte resting alternative but the risk of side effects would theoretically b e greater than with oral retinoids.