TLDR Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
In 2017, a study was conducted on two Iranian siblings suffering from Hereditary Vitamin D Resistant Rickets (HVDRR), a rare disease characterized by rickets, alopecia, and growth retardation. The siblings, followed for 27 years, exhibited symptoms like rickets, growth retardation, muscle weakness, hypocalcemia, and alopecia totalis since early childhood. Genetic testing revealed a mutation in the VDR gene, causing their resistance to vitamin D. Despite treatment with high doses of calcium and active vitamin D, no significant improvement was observed in their condition. The study concluded that genetic testing is crucial for diagnosing HVDRR and that normal hair growth depends on the interaction of Vitamin D Receptor (VDR) with a nuclear transcription factor named hairless protein (Hr). The male sibling had severe bone loss, while the female sibling had normal Bone Mineral Density (BMD), despite having a more severe form of the disease.
107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
151 citations
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22 citations
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April 2010 in “Journal of Cellular Biochemistry” Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
50 citations
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24 citations
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47 citations
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October 1989 in “European Journal of Pediatrics” Two siblings stayed rickets-free for 14 years after stopping treatment.
12 citations
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20 citations
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May 2016 in “Journal of Cosmetic Dermatology” Low vitamin D receptor levels found in hair loss patients; topical vitamin D treatment suggested.
10 citations
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July 2018 in “Our Dermatology Online” Some vitamins and minerals are important for preventing hair loss, but treating hair loss with them without a known deficiency is not proven effective.
37 citations
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April 2011 in “Journal of Biological Chemistry” LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
5 citations
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May 2023 in “Frontiers in immunology” Environmental factors like diet and vitamin levels, especially Vitamin D, can affect autoimmune diseases differently, with lifestyle changes potentially improving outcomes.
