The unusual association of three autoimmune diseases in a patient with Noonan syndrome.
We report on a 26-year-old female affected by Noonan syndrome (NS), a congenital disorder characterized by various phenotypic features and congenital anomalies) associated with a variety of autoimmune diseases, including systemic lupus erythematosus, celiac disease, and Hashimoto thyroiditis. Autoimmunity is seldom described in NS and the association between this congenital disease and three autoimmune disorders has not been previously reported. Should the occurrence of autoimmune disorders in NS be confirmed, a relevant clinical and laboratory evaluation of NS patients should be performed in order to clarify whether the immune system involvement represents only an occasional event or is a feature of the disease.
Amoroso
Antonio
A
Department of Clinical Medicine, University of Rome La Sapienza, Rome, Italy. antonio.amoroso@uniroma1.it
Garzia
Pierluigi
P
Vadacca
Marta
M
Galluzzo
Sara
S
Del Porto
Flavia
F
Mitterhofer
Anna P
AP
Afeltra
Antonella
A
D000328:Adult; D002446:Celiac Disease / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000175:diagnosis; D009634:Noonan Syndrome / Q000150:complications*; D013967:Thyroiditis, Autoimmune / Q000150:complications* / Q000175:diagnosis