Severe
vitamin D deficiency and
rickets are highly prevalent among children with congenital
ichthyosis. We report an incidental observation of a dramatic and excellent clinical response with regard to skin scaling and stiffness in children with congenital
ichthyosis after short-term high-dose
vitamin D supplementation that has not been previously described. Seven children with congenital
ichthyosis (5 with autosomal recessive congenital
ichthyosis; 2 with
epidermolytic ichthyosis) and severe
vitamin D deficiency (and/or
rickets) were given 60,000 IU of oral
cholecalciferol daily for 10 days under supervision. All children were subsequently put on recommended daily allowance of 400 to 600 IU of
cholecalciferol. The main outcome measures observed and studied were reduction in skin scaling and stiffness of the extremities. All cases had severe
vitamin D deficiency (serum 25-hydroxyvitamin D < 4 ng/mL) and
secondary hyperparathyroidism. Six patients had clinical and radiologic evidence of
rickets. Significant improvement in scaling was noticeable by day 5, showing further improvement by day 10, in 6 of the 7 cases. At 1 month, the skin had become near normal in all the cases of autosomal recessive congenital
ichthyosis. Remarkable reduction in stiffness was also observed in all children. Supplementation with high-dose
vitamin D followed by recommended daily allowance appears to be an effective form of
therapy in the management of congenital
ichthyosis with
vitamin D deficiency.