Vitamin D Dependent Rickets Type II with Alopecia

Abstract

Abstract Vitamin D dependent rickets Type II (VDDR II) is a rare form of autosomal recessive disorder, which is inherited and often caused by mutation of a gene on vitamin D receptor which in turn prevents normal physiological response to 1, 25(OH)2 vitamin D. The elevated circulating levels of 1,25-dihydroxyvitamin D3 is a diagnostic feature of VDDR II, while the presence of alopecia differentiates it from vitamin D-dependent rickets Type I. VDDR II is considered to be the best example of aberrant target tissue response. The researchers thereby report a case of a two-year old female child with short stature, typical features of rickets and lack of hair growth. Upon investigation the level of 1,25(OH)2D was found to be high which is diagnostic of VDDR type II. The child was started on high dose of calcitriol and oral calcium but on follow-up did not show much improvement probably due to poor compliance.