Vitamin D-Dependent rickets Type II with alopecia: A rare case report

Autor: Divya Vupperla, Snehal Balvant Lunge, Praveen Elaprolu
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Indian Journal of Dermatology, Vol 63, Iss 2, Pp 176-179 (2018)
Druh dokumentu: article
ISSN: 0019-5154
1998-3611
DOI: 10.4103/ijd.IJD_434_17
Popis: 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.
Databáze: Directory of Open Access Journals
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje