Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: a new syndrome?

Am J Med Genet A. 2003 Aug 30;121A(2):118-25. doi: 10.1002/ajmg.a.20181.

Abstract

Osteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal-tarsal osteolysis, Torg, François, Whyte-Hemingway, Hajdu-Cheney, Winchester, and other forms have been described. Most present in pre-school years with extensive involvement and destruction of multiple bones. We present a sister-pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister-pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adolescent
  • Arthritis, Juvenile / diagnosis
  • Bone Resorption / genetics
  • Female
  • Genes, Recessive
  • Humans
  • Metacarpus / abnormalities
  • Metacarpus / diagnostic imaging
  • Metacarpus / pathology*
  • Osteolysis, Essential / diagnostic imaging
  • Osteolysis, Essential / genetics*
  • Osteolysis, Essential / pathology
  • Patella / diagnostic imaging
  • Patella / pathology*
  • Radiography
  • Scaphoid Bone / diagnostic imaging
  • Scaphoid Bone / pathology*
  • Siblings
  • Syndrome
  • Synovitis / diagnostic imaging
  • Synovitis / genetics*
  • Talus / diagnostic imaging*
  • Talus / pathology*