A syndrome of fibrosing pleuritis, pericarditis, and synovitis with infantile contractures of fingers and toes in 2 sisters: "familial fibrosing serositis".
We describe a family in which 2 sisters born to consanguineous parents developed childhood onset fibrosing pleuritis in association with constrictive pericarditis and bilateral deforming arthropathy of large and small joints of upper and lower extremities including flexion contractures of several fingers (camptodactyly) and toes. One patient also had mitral value prolapse. Histopathological examination of the synovium and pericardium revealed fibrosis, and ultrastructural study of synovium showed abundant inter and intracellular mesh of 9 nm microfibrils. We describe this distinct clinicopathological entity with pleiotropic manifestations, the common features of which appears to be the fibrosis of serous membranes. Therefore, the term "familial fibrosing serositis" is proposed for this entity.
Verma
U N
UN
Sanjay Gandhi Post-Graduate Institute of Medical Sciences and the Central Drug Research Institute, Lucknow, UP, India.
Misra
R
R
Radhakrisnan
S
S
Maitra
S C
SC
Agarwal
S S
SS
Singh
R R
RR
D000293:Adolescent; D002648:Child; D003286:Contracture; D005121:Extremities; D005260:Female; D005355:Fibrosis; D006801:Humans; D007596:Joints / Q000473:pathology; D008854:Microscopy, Electron; D010375:Pedigree; D010493:Pericarditis; D010994:Pleura / Q000473:pathology; D010995:Pleural Diseases; D012700:Serositis / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D013583:Synovial Membrane / Q000473:pathology / Q000648:ultrastructure; D013585:Synovitis