A patient with rickets and alopecia totalis

Abstract

Rickets is a disorder of bone mineralisation. Common causes of rickets are dietary calcium and Vitamin deficiency. Mutations in vitamin D activity are known to cause Vitamin D-resistant rickets (VDRRs). Various types of VDRRs have been identified – type I and type II along with their subtypes. They present with the typical features of rickets such as bowing of legs and rachitic rosary. They are differentiated by certain clinical and biochemical parameters from the common causes. Further molecular testing is required to evaluate various types of VDRRs. Most cases of VDRRs are diagnosed based on clinical and biochemical features commonly described in the literature, but genetic studies are required to characterise various subtypes. Such cases require life-long treatment of calcium and vitamin D supplementation. We present a case of VDRRs type II, evaluated, treated and followed up at regular intervals, and it has shown improvement in biochemical parameters, clinically as well as radiologically.