Nyfödds stortår kan avslöja allvarlig diagnos. Fibrodysplasia ossificans progressiva kan ge svår invalidisering
Engelsk titel: Toes of the newborns can reveal serious diagnosis. Fibrodysplasia ossificans progressiva can cause severe disability
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Författare:
Ronge, Eric
Email: eric.ronge@vgregion.se
Språk: Swe
Antal referenser: 08
Dokumenttyp:
Fallbeskrivning
UI-nummer: 10121356
Sammanfattning
Fibrodysplasia ossificans progressiva is a rare congenital disorder gradually disabling the patient by restricting joint mobility. Although easy to recognise at birth, few doctors are aware of its existence. Small trauma may elicit an inflammation that turns soft tissue into genuine bone (heterotop ossification). Delay in diagnosis means increased risk for irreversible damages, sometimes iatrogenic due to surgical or diagnostic interventions. No efficacious treatments are available. We report a boy born 2006 with characteristic features who was diagnosed just before his first birthday. Efforts to prevent trauma have been successful as no obvious heterotop ossifications have developed so far. Hallux valgus-like great toes on a newborn baby would arise suspicion to the FOP disorder. It is crucial for all doctors who come in touch with these patients to be familiar with the potential risks, especially in emergency situations. All necessary information on FOP is available at www.ifopa.org.