TLDR A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
In the 1986 study, researchers presented the case of a 3-year-old boy with Vitamin D-dependent rickets type II (VDDR II), who showed no improvement in his condition despite receiving extremely high doses of 1,25-dihydroxy vitamin D3. The boy, who did not have alopecia—a common symptom in VDDR II—died at 39 months of age. In vitro studies indicated a lack of hormone binding and reduced metabolism of the vitamin D metabolite in the boy's skin fibroblasts. The study also reviewed 29 other patients with VDDR II, finding that alopecia was not a consistent indicator of the disease's severity or treatment response. The boy's case was considered to represent an extreme end of organ resistance within the spectrum of VDDR II, and the study suggested that alternative treatments might be necessary for such severe cases.
110 citations
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November 1984 in “The American Journal of Medicine” A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
88 citations
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October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
82 citations
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April 1981 in “Clinical endocrinology” A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
82 citations
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October 1980 in “The Journal of Clinical Endocrinology & Metabolism” The child's body didn't respond well to vitamin D, causing hair loss and rickets.
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.
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.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
1 citations
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January 2016 in “Journal of Nepal Paediatric Society” A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
July 2022 in “International Journal of Contemporary Pediatrics” Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
18 citations
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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.
13 citations
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April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
