[Chronic recurrent multifocal osteomyelitis and tumoral calcinosis--is there an association?]. / Die chronisch-rezidivierende multifokale Osteomyelitis und die tumoröse Kalzinose--assoziierte Erkrankungen?

BACKGROUND: Idiopathic tumorous calcinosis is a rare benign disease of the periarticular tissue near large joints. Deposits of hydroxyapatite in single or multiple pseudocysts lead to consecutive pain or complaints by attaching the surrounding tissues. The etiology of this disease is not definitively clear. CASE REPORT: We describe the case of an 11-year-old turkish girl with a well known chronic recurrent multifocal osteomyelitis (CRMO) and hyperphosphataemia. Furthermore, she developed a tumorous calcinosis around the left hip, which recurred after surgery, and around the ankle joint. CONCLUSIONS: CRMO and tumorous calcinosis can be associated diseases. The development of tumorous calcinosis in patients with CRMO and hyperphosphataemia should be excluded.

Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.

Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia. Recent data suggest that presenilin-1 may be biologically linked to cerebral amyloid beta deposition. The intronic presenilin-1 polymorphism published by Wragg and colleagues (1996) was analyzed in 65 carriers of the hereditary cerebral hemorrhage with amyloidosis, Dutch type, mutation. We found that the presenilin-1 genotype was not correlated with age at first stroke, number of recurrences, dementia, and age at death or with white matter hyperintensities and focal lesions on magnetic resonance images. From our data we conclude that amyloid beta deposition in this disease is most likely not influenced by presenilin-1.