April 2023 in “Research Square (Research Square)” In this study, gene therapy using a VDR-expressing adenoviral vector significantly improved hair growth and reduced cyst formation in Vdr -KO rats with alopecia linked to type II rickets, whereas control treatments did not show these effects.
5 citations
,
January 1970 in “Journal of Nepal Paediatric Society” This article reviews Vitamin D-dependent rickets Type II with a focus on alopecia as a potential diagnostic clue for this rare disorder, reporting no new clinical findings.
50 citations
,
October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
11 citations
,
January 2018 in “DOAJ (DOAJ: Directory of Open Access Journals)” This case report observed that while a 4-year-old boy with vitamin D-dependent rickets type II showed biochemical and bone improvement after vitamin D and calcium treatment, his alopecia did not improve.
2 citations
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February 1990 in “PubMed” In this study, 1,25-dihydroxyvitamin D3 inhibited growth and promoted differentiation in normal hair follicle cells but did not affect cells from a patient with vitamin D-dependent rickets type II, assisting in potential rapid diagnosis of the condition.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” This case report discusses a 27-month-old girl with vitamin D-dependent rickets type II, who showed minor improvement in skeletal features and alopecia after high-dose oral calcium and vitamin D3 treatment.
November 2023 in “Biomolecules” In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.
81 citations
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March 1985 in “Journal of Clinical Investigation” This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
July 2025 in “SVU-International Journal of Medical Sciences” This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
31 citations
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September 2003 in “International Journal of Dermatology” This report describes two Saudi brothers with Vitamin D-dependent rickets Type II and emphasizes the association of this disorder with alopecia.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
3 citations
,
December 2010 in “Annals of tropical paediatrics” In this study, the authors reported that while conventional treatment improved rickets in a boy with vitamin D-dependent rickets type II, it also resulted in unexpected improvement in his alopecia.
October 1990 in “Pediatric Research” This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
October 2023 in “Scientific Reports” In this study, gene therapy using a VDR-expressing adenoviral vector promoted hair growth in Vdr-KO rats, suggesting its potential for treating alopecia associated with type II rickets.
47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.
August 2019 in “International journal of contemporary pediatrics” This case study reports that a 3 ½ year-old male with vitamin D-dependent type II rickets showed partial improvement in alopecia and rickets when treated with high doses of 1,25(OH)2 vitamin D3.
52 citations
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August 1993 in “Clinical endocrinology” This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.
10 citations
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September 1991 in “Journal of Dermatological Science”
January 2024 in “Clinical, cosmetic and investigational dermatology” In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.
6 citations
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August 1989 in “European journal of pediatrics” This case study describes a child with rickets and alopecia who responded to a small dose of 1-a-hydroxyvitamin D3, but her alopecia remained unchanged despite treatment.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
23 citations
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October 2009 in “Gastroenterology” This article reviews the multifaceted roles of vitamin D beyond bone health and notes its potential involvement in reducing risks of certain cancers and autoimmune diseases, but it presents no new clinical results.
January 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” This article discusses various causes of rickets in children and describes VDDR-2A as a type of refractory rickets often linked to alopecia totalis in infancy, but reports no new clinical findings.
January 2023 in “International Journal of Contemporary Pediatrics” This case study describes a 5-year-old boy with vitamin D dependent rickets type 2, motor delays, and alopecia totalis who showed improved biochemical parameters with calcium and calcitriol treatment.
July 2022 in “International Journal of Contemporary Pediatrics” This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.