Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report

Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system. A form of rickets/osteomalacia that is markedly resistant to treatment with vitamin D has been reported in children with this syndrome. We report the clinical and laboratory observations in a child with epidermal nevi and severe hypophosphatemic rickets/osteomalacia.