1,25-Dihydroxyvitamin D Resistance, Rickets, and Alopecia

November 1984 in “ The American Journal of Medicine ”

Ze’ev Hochberg, A Benderli, Joseph Levy, Pnina Vardi, Yosef Weisman, Theresa Chen, David Feldman

1,25-dihydroxyvitamin D resistance rickets alopecia hypocalcemia hypophosphatemia elevated serum alkaline phosphatase secondary hyperparathyroidism 1,25-dihydroxyvitamin D3 1,25-dihydroxyvitamin D3 receptors total-body alopecia vitamin D resistance hair loss calcium deficiency phosphate deficiency high alkaline phosphatase high parathyroid hormone vitamin D3 vitamin D3 receptors complete hair loss

Studysummary This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.

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The document described two unrelated families with four children affected by 1,25-dihydroxyvitamin D resistance, rickets, and alopecia. These children showed early severe rickets, hypocalcemia, hypophosphatemia, elevated serum alkaline phosphatase, and secondary hyperparathyroidism, along with total-body alopecia. Despite elevated serum levels of 1,25-dihydroxyvitamin D3 during treatment, the mineral disorder persisted, although secondary hyperparathyroidism and hypophosphatemia remitted. Skin biopsies revealed normal 1,25-dihydroxyvitamin D3 receptors in parents but undetectable receptors in affected children. Healing occurred spontaneously in older children, suggesting a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor, with mechanisms of healing remaining unclear.

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research Rickets and Alopecia with Resistance to 1,25-Dihydroxyvitamin D: Two Different Clinical Courses with Two Different Cellular Defects

88 citations , 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.

research Vitamin D Resistant Rickets With Alopecia: A Form of End Organ Resistance to 1,25 Dihydroxy Vitamin D

82 citations , April 1981 in “Clinical endocrinology”

This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.

research An Unusual Form of Vitamin D-Dependent Rickets in a Child: Alopecia and Marked End-Organ Hyposensitivity to Biologically Active Vitamin D

82 citations , October 1980 in “The Journal of Clinical Endocrinology & Metabolism”

This case study describes a child with an unusual form of vitamin D-dependent rickets, characterized by alopecia and a deficient response to active vitamin D.

research Rickets With Alopecia: An Inborn Error of Vitamin D Metabolism

170 citations , May 1979 in “The journal of pediatrics/The Journal of pediatrics”

This report describes two sisters with rickets and alopecia unresponsive to high doses of vitamin D2, where oral phosphorus supplements led to significant clinical improvement.