Vitamin D-dependent rickets type 2: Alopecia responding to 1,25 hydroxy Vitamin D

Vitamin D-dependent type two rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH) 2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is fre...

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Bibliographic Details
Published inJournal of the scientific society (Belgaum) Vol. 43; no. 3; pp. 155 - 157
Main Authors Inamdar, Prithi, Bellad, Roopa, Herekar, Veena
Format Journal Article
LanguageEnglish
Published Mumbai Wolters Kluwer - Medknow Publications 01.09.2016
Medknow Publications and Media Pvt. Ltd
Medknow Publications & Media Pvt. Ltd
Wolters Kluwer Medknow Publications
Subjects
25(OH)2 vitamin D3
Alopecia
Baldness
Care and treatment
Case studies
Conflicts of interest
Consent
end-organ resistance
Genetic aspects
Hair
Mutation
Patients
Rickets
Vitamin D
Vitamin D deficiency
1
end-organ resistance
Alopecia
vitamin D
25(OH)2 vitamin D3
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Summary:Vitamin D-dependent type two rickets (VDDRII) is a rare autosomal recessive disorder caused by mutation in the vitamin D receptor gene, leading to end-organ resistance to 1,25(OH) 2 vitamin D3. It presents with refractory rickets and growth retardation presenting in the first year of life. It is frequently associated with alopecia totalis. Due to target organ resistance, its response to vitamin D is poor. The recommended treatment is giving supraphysiological dose of 1,25(OH) 2 vitamin D3 and a high dose of oral or intravenous calcium. The response of alopecia to treatment is generally poor. We present a 3-year-old male child with VDDRII whose alopecia and rickets partially responded to 1,25(OH) 2 vitamin D3.
ISSN:0974-5009
2278-7127
DOI:10.4103/0974-5009.190548