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,
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.
51 citations,
January 2012 in “Annals of dermatology/Annals of Dermatology” A boy with alopecia regrew hair using a vitamin D cream after other treatments failed.
1308 citations,
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.
107 citations,
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.
22 citations,
November 2016 in “International journal of molecular sciences” Vitamin D receptor is important for regulating hair growth and wound healing in mice.
4 citations,
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.
