TLDR A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
In 1981, a study reported a 4-year-old girl with severe rickets and alopecia since age 1. The patient exhibited low blood calcium and phosphate levels, secondary hyperparathyroidism, low intestinal calcium absorption, and high levels of circulating 1,25-dihydroxyvitamin D3 (1,25(OH)2D3). Despite normal response to parathyroid extract, treatments with various forms of vitamin D were ineffective, indicating intestinal resistance to 1,25(OH)2D3 and possible bone refractoriness to the hormone. This case contributed to a new category of 'Vitamin D resistant rickets due to end organ unresponsiveness,' with only six similar cases reported at the time, and two closely resembling this case. The molecular basis of the disorder was still unknown.
170 citations
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May 1979 in “The journal of pediatrics/The Journal of pediatrics” Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.
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.
1308 citations
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March 1998 in “Journal of bone and mineral research” The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
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.
4 citations
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July 2012 in “Dermatologic Clinics” New biopsy techniques and tools improve alopecia diagnosis, and both too much and too little selenium can cause hair loss.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
July 2023 in “Journal of medical and health studies” A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
