Noonan syndrome associated with systemic lupus erythematosus

Lupus. 2009 Mar;18(3):267-9. doi: 10.1177/0961203308094996.

Abstract

Noonan syndrome (NS) is a developmental disorder characterised mainly by cardiac defects and craniofacial dysmorphia. An association between NS and some autoimmune diseases, such as thyroiditis and systemic lupus erythematosus (SLE), has been suggested. We report the case of a 28-year-old man with a diagnosis of NS and autoimmune hypothyroidism who developed symptoms and immunologic features of SLE.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Comorbidity
  • Humans
  • Lupus Erythematosus, Systemic / etiology*
  • Lupus Erythematosus, Systemic / pathology
  • Lupus Erythematosus, Systemic / physiopathology
  • Male
  • Noonan Syndrome / complications*
  • Noonan Syndrome / pathology
  • Noonan Syndrome / physiopathology
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Young Adult

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11