Polyarticular pigmented villonodular synovitis associated with multiple congenital anomalies. A case of Noonan-like/multiple giant cell lesion syndrome.
A case of polyarticular pigmented villonodular synovitis associated with many congenital phenotypic peculiarities (such as shortness, blue sclerae, flattened nose, low-set ears, hypertelorism, curly hair and pulmonary stenosis) is described. The presence of many of the typical signs of the Noonan syndrome and the histological finding of giant cells on the synovial biopsy led to the diagnosis of Noonan-like/multiple giant cell lesion syndrome.
Minisola
G
G
Department of Rheumatology, Sandro Pertini Hospital, Azienda USL Roma B, Rome, Italy.
Porzio
V
V
Ceralli
F
F
Grillo
L R
LR
Porzio
F
F
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D005260:Female; D015726:Giant Cells / Q000473:pathology*; D006801:Humans; D009634:Noonan Syndrome / Q000473:pathology*; D011859:Radiography; D013577:Syndrome; D013586:Synovitis, Pigmented Villonodular / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*