Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant - Takeaways - MDSpire

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant

  • By

  • Fernando Lizcano

  • Eliana Avilés

  • Cristian López

  • Silvia Maradei-Anaya

  • Maria Camila Ballesteros-García

  • Lizeth Bustamante

  • Fredy Luna

  • Miguel O’Meara

  • Alex Valenzuela

  • June 16, 2026

  • 0 min

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  • 1

    Pyle disease is a rare skeletal dysplasia caused by SFRP4 variants, leading to abnormal cortical bone modeling and persistent bone pain.

  • 2

    The patient presented with severe bone pain, preserved lumbar bone density, and reduced femoral neck mass, indicating cortical bone loss.

  • 3

    Bone alkaline phosphatase levels were low, while vitamin B6 levels were normal, ruling out classical hypophosphatasia.

  • 4

    Pelvic MRI showed diffuse bone marrow edema, suggesting an active stress-related process contributing to chronic pain.

  • 5

    The case highlights a structural–metabolic model where cortical integrity, mineralization, and systemic factors may interact to generate bone pain.

Original Source(s)

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant

  • by Fernando Lizcano, Eliana Avilés, Cristian López, Silvia Maradei-Anaya, Maria Camila Ballesteros-García, Lizeth Bustamante, Fredy Luna, Miguel O’Meara, Alex Valenzuela

  • June 16, 2026

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