Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome

Abstract

We describe a newborn girl with right-sided extended epidermal nevus, congenital rhabdomyosarcoma of the inguinal area at birth who had developed central precocious puberty, hemihypertrophy and vitamin D3-responsive hypophosphatemic rickets at the age of 14 months. Our patient demonstrates a much broader and polymorphic spectrum of organ systems involvement in epidermal nevus syndrome at a very early age of her life.