Familial arthropathy with camptodactyly: reports of two families

SOYLU A., Turkmen M., Kavukcu S., Ozer E., Canda T.

TURKISH JOURNAL OF PEDIATRICS, cilt.43, sa.4, ss.356-361, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 43 Sayı: 4
  • Basım Tarihi: 2001
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.356-361
  • Anahtar Kelimeler: camptodactyly, childhood, familial arthropathy, familial fibrosing serositis, juvenile rheumatoid arthritis, PERICARDITIS, ARTHRITIS, CONTRACTURES, FINGERS
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Familial association of congenital camptodactyly and arthropathy without evidence of concurrent inflammation has an autosomal recessive pattern of inheritance. We describe four children born to consanguineous parents in two families with congenital camptodactyly and polyarthropathy which were misdiagnosed and treated as juvenile rheumatoid arthritis (JRA) for some time. The siblings in the second family also had fibrosing pleuritis. Histopathological examination of the synovial tissues of the children in the first family revealed synovial hypertrophy and presence of multinucleated giant cells with minimal inflammation and vasculitis. On the other hand, prominent fibrosis with no inflammation was present in the synovial tissue of the elder boy in the second family. Thus, while the children in the first family had the phenotypic characteristics of congenital familial hypertrophic synovitis, the latter siblings probably represent a form of the familial fibrosing serositis.