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., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.64, sa.9, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 64 Sayı: 9
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1016/j.ejmg.2021.104286
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Anahtar Kelimeler: Systemic lupus erythematosus, Spondyloenchondrodysplasia, RESISTANT ACID-PHOSPHATASE, ACP5, SPONDYLOENCHONDRODYSPLASIA, DEFICIENCY, DYSPLASIA
  • Gazi Üniversitesi Adresli: Evet

Özet

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.