SOLOMONS EPIDERMAL NEVUS SYNDROME (TYPE LINEAR NEVUS SEBACEUS) AND HYPOPHOSPHATEMIC VITAMIN-D-RESISTANT RICKETS

Background: Epidermal nevus syndrome is very variable in symptoms and associated abnormalities. Synonyms of this syndrome are linear nevus s ebaceus syndrome or Schimmelpenning-Feuerstein-Mims syndrome or Solomo n syndrome. The combination with vitamin D-resistant rickets is rare a nd only sporadically described. Less than 10 cases with this combinati on of symptoms have been described in the literature. Observations: We describe a boy suffering from epidermal nevus syndrome (type: nevus s ebaceus). This child also presented with severe rickets with hyperphos phaturia, resistant to vitamin D. Our patient was seen in consultation at birth, but after a delay of 4 years we were consulted again for a second opinion and treatment; the vitamin D-resistant rickets was reco gnized. Treatment with 1,25-dihydroxy vitamin D-3 and phosphorus resul ted in healing of rickets. Removal of parts of the tumors did not infl uence the rickets. This is in contrast with a formerly described case. Removal of fibroangiomas led in that case to normalization of the alk aline phosphatase, calcium, and phosphate serum levels. Conclusions: T he rickets results from massive phosphate excretion by defective renal tubular reabsorption of phosphate. In all patients described, rickets developed at an early age. Clinical symptoms were marked bone abnorma lities, muscle weakness, and bone pain.