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Calcitriol-resistant rickets with alopecia.

Z Hochberg, A Gilhar, S Haim

    Archives of Dermatology
    |May 1, 1985
    PubMed
    Summary
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    Children with vitamin D-resistant rickets experienced hair loss due to defective calcitriol receptors. This finding suggests a link between rickets and alopecia, impacting hair growth disorders.

    Area of Science:

    • Endocrinology
    • Genetics
    • Dermatology

    Background:

    • Vitamin D is crucial for bone health and calcium homeostasis.
    • Defects in vitamin D metabolism or receptor function can lead to rickets.
    • Alopecia, or hair loss, can have various underlying causes.

    Observation:

    • Four children from two families presented with severe rickets resistant to standard treatment.
    • These children also exhibited alopecia (hair loss).
    • Scalp biopsies showed normal hair and follicle morphology.

    Findings:

    • The rickets and alopecia were attributed to defective cytoplasmic and nuclear receptors for calcitriol (1,25-dihydroxyvitamin D3).
    • This indicates a genetic basis for calcitriol resistance.
    • The hair loss was not due to apparent abnormalities in the hair follicles themselves.

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    Implications:

    • Calcitriol-resistant rickets should be recognized as an inherited disorder affecting hair growth.
    • The co-occurrence of rickets and alopecia warrants consideration in the differential diagnosis of hair loss.
    • This highlights the systemic effects of vitamin D receptor defects beyond bone metabolism.