Vitamin D: A New Promising Therapy for Congenital Ichthyosis

Abstract

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.

Vitamin D Deficiency and Its Response to Supplementation as “Stoss Therapy” in Children with Cyanotic Congenital Heart Disease Undergoing Open Heart Surgery

“…Modified stoss therapy in which 60,000 IU of oral cholecalciferol was given daily for 10 days was tried by Sethuraman et al in our institution which gave promising results in severe clinical rickets and congenital ichthyosis. 27 In the present study, we supplemented single megadose oral vitD at 10,000 IU/kg, 2 ± 1 weeks prior to elective ICR in pediatric CCHD patients with TOF. Sheperd et al in a retrospective review, identified the role of administering stoss therapy for effectively treating severe vitD deficiency in cystic fibrosis children.…”

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

“…Although no curative therapy exists for ichthyoses to date, there are a few approaches in terms of topical applications. 46,[58][59][60] An example for a successful treatment of ichthyosis symptoms is a combined therapy with lovastatin (statin drug) and cholesterol for persons with congenital hemidysplasia with ichthyosiform erythroderma syndrome (CHILD [MIM: 308050]), an X-linked dominant cholesterol metabolic disorder caused by mutations in NSDHL (MIM: 300275). 61 It is conceivable that treatment with cholesterol sulfate, the end product of the conversion catalyzed by SULT2B1, might enable the correct procession of lamellar bodies and consequently improve the phenotype of SULT2B1-deficient persons.…”

Management of congenital ichthyoses: European guidelines of care, part two

“…The risk for 25‐hydroxyvitamin D deficiency in CI is well established, especially in children, with many case reports in the literature. These include four small retrospective series of five to 15 patients with keratinization disorders, including CI, and three prospective studies of 45–119 patients with CI . The underlying mechanism of vitamin D deficiency in CI remains unclear.…”