PMID- 30967742
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 0973-029X (Print)
IS  - 1998-393X (Electronic)
IS  - 0973-029X (Linking)
VI  - 23
IP  - Suppl 1
DP  - 2019 Feb
TI  - Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia 
      and oral manifestations.
PG  - 130-133
LID - 10.4103/jomfp.JOMFP_309_18 [doi]
AB  - Rickets is a metabolic bone disease that develops as a result of inadequate 
      mineralization of growing bone due to disruption of calcium, phosphorus and/or 
      Vitamin D metabolism. In addition, several rare genetic causes of rickets have 
      also been described, which can be divided into two groups. The first group 
      consists of genetic disorders of Vitamin D biosynthesis and action, such as 
      Vitamin D-dependent rickets Type 1A, Type 1B, Type 2A (VDDR2A) and Type 2B. The 
      second group involves genetic disorders of excessive renal phosphate loss 
      (hereditary hypophosphatemic rickets). VDDR2A 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 D(3). It clinically represents growth 
      retardation presenting in the 1(st) year of life and frequently associated with 
      alopecia totalis, which differentiates it from VDDR Type 1. Due to target organ 
      resistance, its response to Vitamin D is poor. We report two cases of familial 
      VDDR2A, with alopecia and oral manifestations.
FAU - Thakur, Moni
AU  - Thakur M
AD  - Department of Oral and Maxillofacial Pathology, Mamata Dental College and 
      Hospital, Khammam, Telangana, India.
LA  - eng
PT  - Case Reports
PL  - India
TA  - J Oral Maxillofac Pathol
JT  - Journal of oral and maxillofacial pathology : JOMFP
JID - 101227995
PMC - PMC6421925
OTO - NOTNLM
OT  - Alopecia
OT  - Vitamin D
OT  - calcium
OT  - rickets
COIS- There are no conflicts of interest.
EDAT- 2019/04/11 06:00
MHDA- 2019/04/11 06:01
PMCR- 2019/02/01
CRDT- 2019/04/11 06:00
PHST- 2019/04/11 06:00 [entrez]
PHST- 2019/04/11 06:00 [pubmed]
PHST- 2019/04/11 06:01 [medline]
PHST- 2019/02/01 00:00 [pmc-release]
AID - JOMFP-23-130 [pii]
AID - 10.4103/jomfp.JOMFP_309_18 [doi]
PST - ppublish
SO  - J Oral Maxillofac Pathol. 2019 Feb;23(Suppl 1):130-133. doi: 
      10.4103/jomfp.JOMFP_309_18.