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. 2018 Mar-Apr;63(2):176-179.
doi: 10.4103/ijd.IJD_434_17.

Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report

Divya Vupperla  1 , Snehal Balvant Lunge  2 , Praveen Elaprolu  3
Affiliations

Vitamin D-Dependent Rickets Type II with Alopecia: A Rare Case Report

Divya Vupperla et al. Indian J Dermatol. 2018 Mar-Apr.

Abstract

Vitamin D-dependent rickets type II is a rare hereditary disorder. It occurs due to mutations in the gene chr. 12q12-q14, which codes for vitamin D receptor. End-organ resistance to 1,25-(OH)2 vitamin D3 and alopecia in severe cases are the characteristic features. We report a case of a 4-year-old boy with loss of hair over the scalp and body - first observed after 1 month of birth. The boy also developed difficulty in walking at the age of 2 year. On analysis, reduced serum calcium level (7.5 mg/dL) and elevated alkaline phosphatase level (625 IU/L) were reported. Initially, the treatment included intramuscularly administered single dose of 600,000 IU vitamin D, followed by 400 IU of vitamin D along with 1 g of supplemental calcium every day. Periodic follow-up was conducted for 2 months. Improvement was observed in the biochemical parameters and X-rays of the distal radial and ulnar metaphyses, although no improvement was observed in alopecia.

Keywords: Alopecia; hereditary; rickets; vitamin D treatment; vitamin D-dependent rickets type II.

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Conflict of interest statement

There are no conflicts of interest. What is new? VDDR type associated with alopecia is rare; however, it can be treated with supplemental calcium and large doses of vitamin D. Cases presenting with rickets along with alopecia should be further evaluated for VDDR type II.

Figures

Figure 1
Figure 1
Loss of hair over the scalp (few terminal hairs present over the vertex and upper eyelids)
Figure 2
Figure 2
Loss of hair all over the body
Figure 3
Figure 3
Bowing of legs (genu varum)
Figure 4
Figure 4
Widened wrist
Figure 5
Figure 5
Rachitic rosary
Figure 6
Figure 6
Hypoplastic anterior teeth along with signs of exposure of pulp
Figure 7
Figure 7
Metaphyseal fraying, flaying, and cupping of the distal radius and ulna
Figure 8
Figure 8
Horizontally sectioned scalp biopsy showing lack of hair shafts in some of the hair follicles with absent lymphocytic infiltration (H and E, ×100)
See this image and copyright information in PMC

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