A very rare cause of acro-osteolysis: Hajdu-Cheney syndrome.

Acro-osteolysis is not uncommon and occurs in several conditions. Additional clinical and paraclinical findings and sometimes the performance of molecular tests can help to clarify the diagnosis. Here, we report the case of a 36-year-old woman who was referred to our department because of acute pain in the extremity of the left index finger. However, subsequent clinical examination also revealed short digits with pseudo-clubbing related to acro-osteolysis. Furthermore, severe osteoporosis, a moderate dysmorphic face, joint hypermobility, biological variables within normal ranges and her clinical history led us to consider the diagnosis of Hajdu-Cheney syndrome. Molecular analysis confirmed the diagnosis with the identification of a mutation in the NOTCH2 gene. The patient received bisphosphonate therapy, which resulted in some clinical and biological improvement 12 months later.

Joint failure in erosive osteoarthritis of the hands.

Erosive osteoarthritis (EOA), the type of hand osteoarthritis characterized by faster destructive changes, may be suspected clinically because of phlogistic presentation especially in DIP and in PIP joints. Scintiscan may be useful in early diagnosis, but the final diagnosis of EOA is always radiological, and depends upon the presence of central erosions. The inflammatory and crystal-induced origin of EOA is sometimes stressed in the literature, but despite the phlogistic course of the disease there is evidence against EOA being a primitive synovitis, the most cogent point being the cellular content of synovial fluid. The pathogenetic hypothesis that we propose is of a chondral primitive disorder, with synovitis causing further chondral erosion, subchondral bone damage, and finally joint instability or fibrous and bone ankylosis with severe impairment of joint function.

[Rheumatoid arthritis of the hand. The initial results with 31-phosphorus MR spectroscopy]. / Rheumatoide Arthritis der Hand. Erste Ergebnisse mit der 31Phosphor-MR-Spektroskopie.

The aim of this study was to demonstrate metabolic changes in the small joints of the hand due to rheumatoid arthritis by means of 31-phosphorus spectroscopy. Suitable measurements were developed and 11 normals and 12 patients were then examined during the course of treatment. Relative concentration of low energy phosphorus metabolites was increased in arthritic joints. The phospholipid quotient (phosphomonoester/phosphodiester) and the relationship of inorganic phosphate and beta-nucleoside triphosphate were significant factors during the course of individual treatments.