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

Baglan E., Ozdel S., Gungor T., KARAKUŞ R., BAĞRIAÇIK E. Ü., ATAK YÜCEL A., ...More

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.64, no.9, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 64 Issue: 9
  • Publication Date: 2021
  • Doi Number: 10.1016/j.ejmg.2021.104286
  • Journal Name: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Keywords: Systemic lupus erythematosus, Spondyloenchondrodysplasia, RESISTANT ACID-PHOSPHATASE, ACP5, SPONDYLOENCHONDRODYSPLASIA, DEFICIENCY, DYSPLASIA
  • Gazi University Affiliated: Yes

Abstract

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.