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Vitamin D- dependent rickets type II: extreme end organ resistance to Vitamin D in a patient with alopecia

Introduction: Vitamin D-dependent rickets type II (VDDR II) is a rare syndrome resulting severe rickets and is resistant to treatment with vitamin D and its derivatives. Patient with this disease, who are frequently the children of consanguineous marriages, present with elevated circulating concentrations of 1,25 - dihydroxy vitamin D.Alopecia has been noted in many of these patients and it has been suggested that this feature may indicate a more marked resistance to treatment. We describe a 2-year-old boy with this disease who presented with severe clinical and radiological rickets since the age of 1 and alopecia since birth.