Spondylenchondrodysplasia mimicking a systemic lupus erythematosus: A diagnostic challenge in a pediatric patient

Eur J Med Genet. 2021 Sep;64(9):104286. doi: 10.1016/j.ejmg.2021.104286. Epub 2021 Jul 7.


Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by biallelic mutations in the ACP5 gene that encodes tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is extremely pleiotropic and is characterized by neurological impairment and immune dysfunction. This phenotype can mimic systemic lupus erythematosus. Herein, we report a child presented with systemic lupus erythematosus-like symptoms, including multisystem inflammation, autoimmunity, and immunodeficiency, but was subsequently diagnosed as SPENCD.

Keywords: Spondyloenchondrodysplasia; Systemic lupus erythematosus.

Publication types

  • Case Reports

MeSH terms

  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / genetics
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Genetic Testing
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics
  • Lupus Erythematosus, Systemic / diagnosis*
  • Lupus Erythematosus, Systemic / genetics
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • Tartrate-Resistant Acid Phosphatase / genetics*


  • ACP5 protein, human
  • Tartrate-Resistant Acid Phosphatase

Supplementary concepts

  • Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia