Die „Doughnut-Lesion” im Schädeldach

Calvarial “doughnut lesions”: Clinical spectrum of the syndrome, report on a case, and review of the literature

“…Several fractures had occurred before CDLs were recognized on clinical examination as hard, nontender lumps. In our patient and in another reported case [Aube et al, 1988], bone scintigraphy showed increased tracer uptake in CDLs as a sign of osteoblastic activity, which was not noted in a mild case [Canigiani and Salomonowitz, 1984]. The bone mineral density of the lumbar region was reduced in our patient, again in contrast to a mild case [Canigiani and Salomonowitz, 1984] but compatible with osteoporosis or undertubulation of bones in more severe cases [Colavita et al, 1984;Aube et al, 1988].…”

“…In our patient and in another reported case [Aube et al, 1988], bone scintigraphy showed increased tracer uptake in CDLs as a sign of osteoblastic activity, which was not noted in a mild case [Canigiani and Salomonowitz, 1984]. The bone mineral density of the lumbar region was reduced in our patient, again in contrast to a mild case [Canigiani and Salomonowitz, 1984] but compatible with osteoporosis or undertubulation of bones in more severe cases [Colavita et al, 1984;Aube et al, 1988]. The varying reported clinical and radiologic ®ndings include underdeveloped and severely carious teeth [Colavita et al, 1984;Nishimura et al, 1996]; cystic lesions in the mandible [Nishimura et al, 1996]; an osteosclerotic mass in the maxilla [Nishimura et al, 1996], probably of dental origin; leg length difference as the result of fractures; retarded bone age; bowing of the femora [Colavita et al, 1984]; squared metacarpals and metatarsals; and a``bone in bone'' appearance of the vertebral bones [Aube et al, 1988].…”

Calvarial doughnut lesions and osteoporosis: A new three‐generation family and review

“…The histology of the transiliac bone biopsy demonstrated high‐turnover osteoporosis consistent with the clinical findings of multiple fractures, osteopenia, and increased levels of serum alkaline phosphatase [Stock et al, 1999]. In addition to the original report of 24 sporadic cases affected with CDL [Keats and Holt, 1969], 5 other sporadic individuals affected with CDL have been described [Royen and Ozonoff, 1974; Canigiani and Salomonowitz, 1984; Colavita et al, 1984; Nishimura et al, 1996; Baumgartner et al, 2001]. Some of the sporadic cases presented with a systemic disorder affecting not only the calvarial bones but also causing osteopenia and increased tendency to fractures [Royen and Ozonoff, 1974; Colavita et al, 1984; Nishimura et al, 1996; Baumgartner et al, 2001].…”