| CASE REPORT |
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| Year : 2018 | Volume
: 63
| Issue : 2 | Page : 176-179 |
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Vitamin D-Dependent rickets Type II with alopecia: A rare case report
Divya Vupperla1, Snehal Balvant Lunge2, Praveen Elaprolu3
1 Department of Dermatology, Venereology and Leprosy, Government District Headquarters Hospital, Khammam, Telangana, India
2 Department of Dermatology, Venerology, and Leprosy, Jawaharlal Nehru Medical College, Belgaum, Karnataka, India
3 Department of Radio-Diagnosis, Siddhartha Medical College, Vijayawada, Andhra Pradesh, India
Correspondence Address:
Dr. Divya Vupperla
Department Of Dermatology, Venereology and Leprosy, Government District Headquarters Hospital, Khammam 507002, Telangana
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/ijd.IJD_434_17
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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)2vitamin 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.
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