Bowing of the Legs and Alopecia Universalis in a Young Boy

We present a compelling case of Vitamin D-dependent rickets type IIA (VDDR2a) in a young boy, emphasizing the challenges in diagnosing genetic forms of rickets, particularly in developing nations like India where nutritional rickets are prevalent. VDDR2a, stemming from VD receptor gene mutations, showcases a unique instance of tissue resistance to VD. The case illustrates characteristic clinical features such as infantile-onset alopecia, skeletal deformities, and dental enamel defects. The diagnosis, facilitated by genetic sequencing, elucidates a homozygous splice site variation in the VDR gene, underlining the significance of early identification for effective management. The presence of alopecia highlights the severity and complexity of VDDR2a cases. Biochemical and radiographic findings further corroborate the diagnosis. The discussion delves into the nuanced clinical spectrum of VDDR2a, emphasizing the role of specific VDR mutations in eliciting diverse manifestations. Our case underscores the necessity for a meticulous diagnostic approach, distinguishing VDDR2a from other congenital alopecia disorders. Treatment strategies, though challenging, aim to mitigate complications through timely intervention. This study contributes to the medical literature by shedding light on a rare genetic disorder, accentuating the importance of early diagnosis and tailored management in optimizing clinical outcomes for affected individuals, especially in resource-constrained settings.