Fibrodysplasia ossificans progressiva: case report

Nucci, Anamarli; Queiróz, Luciano de Souza; Santos, Allan de Oliveira; Camargo, Edwaldo E.; Moura-Ribeiro, Maria Valeriana Leme de

doi:10.1590/s0004-282x2000000200023

Cited by 17 publications

(14 citation statements)

References 22 publications

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“…There are no effective medical treatment options to prevent the formation of heterotopic bone in this disease. Bisphosphonate treatment has shown improvement in ambulation, a reduction of existing calcifications and the disappearance of some new ectopic ossifications [57,58,59]. …”

Section: Bisphosphonate Use In Pediatric Patientsmentioning

confidence: 99%

The Use of Bisphosphonates in Pediatrics

Baroncelli

Bertelloni

2014

Horm Res Paediatr

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Bisphosphonates are widely used for the prevention and treatment of osteoporosis in adulthood. In the last years, bisphosphonates have been increasingly used in pediatric patients for the treatment of a growing number of disorders associated with osteoporosis, resistant hypercalcemia or heterotopic calcifications. The use of bisphosphonates in pediatric patients has been proven safe; however, the risk of potential severe consequences into adulthood should be kept in mind. Well-defined criteria for bisphosphonates treatment in pediatric patients are not specified, therefore an accurate selection of patients who could benefit from bisphosphonates is mandatory. A strict follow-up of pediatric patients receiving long-term bisphosphonate therapy is strongly recommended. The purpose of this mini review is to provide a summary of current knowledge on some main general aspects of the structure, mechanisms of action, pharmacokinetics, and bioavailability of bisphosphonates, and to focus on the latest advances of bisphosphonate treatment in pediatric patients. Particular attention has been paid to the common and potential adverse effects of bisphosphonate treatment, and some suggestions concerning the clinical approach and general measures for bisphosphonate treatment in pediatric patients are reported.

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Section: Bisphosphonate Use In Pediatric Patientsmentioning

confidence: 99%

The Use of Bisphosphonates in Pediatrics

Baroncelli

Bertelloni

2014

Horm Res Paediatr

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“…When prednisone is discontinued, a nonsteroidal anti-inflammatory drug or a cyclo-oxygenase-2 inhibitor may be used for the duration of the flare-up [28,29]. Sodium etidronate may slow the bone formation and decrease alkaline phosphatase levels, but negative results have also been reported [30,31]. We have not observed any acute flare-up with sodium etidronate treatment for 1-year follow-up in this patient.…”

Section: Discussionmentioning

confidence: 81%

Fibrodysplasia ossificans progressiva without characteristic skeletal anomalies

Ulusoy

2010

Rheumatol Int

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Fibrodysplasia ossificans progressiva (FOP) is a rare but extremely disabling genetic disease of the skeletal system. This disease is characterized by progression of heterotopic ossification within skeletal muscles, ligaments and tendons. Most patients with FOP are misdiagnosed early in life before the appearance of heterotopic ossification and undergo diagnostic procedures such as biopsy that can cause lifelong disability. Almost all of the patients have some peculiar congenital anomalies, including short great toes, hallux valgus, short thumbs and hypoplasia of digital phalanges. These congenital defects support the diagnosis of FOP, but are not constantly observed in the totality of patients. If necessary, genetic studies can be performed to confirm the diagnosis. Once diagnosed, patients should be advised in order to avoid unnecessary traumas, surgical procedures, biopsies, intramuscular injections and vaccinations. Here, we describe a patient with FOP without characteristic congenital skeletal anomalies.

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“…L'anomalie la plus caractéristique consiste en une brièveté (brachydactylie) de l'hallux, souvent associée à un hallux valgus congénital [42,114,214,223] . D'autres anomalies cliniques peuvent être présentes : anomalies bilatérales des pouces, clinodactylie de l'auriculaire, scoliose, hypocyphose thoracique, surdité de transmission, calvitie [114] .…”

Section: Anomalies Des Halluxunclassified