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

A Tokatli, T Coşkun, I Ozalp - The Turkish journal of pediatrics, 1997 - europepmc.org
A Tokatli, T Coşkun, I Ozalp
The Turkish journal of pediatrics, 1997europepmc.org
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.
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.
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