Fibrodisplasia ossificante progressiva

Tonholo-Silva, Edward R.; Adachi, Elza Aquimi; Tafner, Maria Salete; Yoshinaga, Lúcia

doi:10.1590/s0004-282x1994000100020

Cited by 6 publications

(4 citation statements)

References 8 publications

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“…Although the absence of these skeletal malformations in a patient with characteristic clinical presentation does not exclude the diagnosis of FOP, their presence individually or in combination further strengthens the diagnosis [3]. Similar to our case, Tonholo-Silva et al [11] reported a patient with FOP, although there were widespread heterotopic ossiWcations, the characteristic skeletal malformations of FOP were not mentioned.…”

Section: Sirsupporting

confidence: 83%

Reply to Dua SG et al.

Ulusoy

2011

Rheumatol Int

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Section: Sirsupporting

confidence: 83%

Reply to Dua SG et al.

Ulusoy

2011

Rheumatol Int

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“…In the recent Brazilian literature, three cases fulfill clinical and radiologic criteria for FOP 24,25 . In the case of Tonholo-Silva et al 26 , although there were ectopic ossifications they did not appear to be axial, and the characteristic skeletal stigmata of FOP were not mentioned. Garcia Filho et al 27 studied 25 cases of 'heterotopic ossification' including one of 'progressive myositis ossificans' which may represent an instance of FOP.…”

Section: Discussionmentioning

confidence: 93%

Fibrodysplasia Ossificans Progressiva

Fj¹,

A²,

A³

et al. 2016

Diagnostic Imaging: Musculoskeletal Non-Traumatic Disease

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Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.

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“…In the case of Tonholo-Silva et al 26 , although there were ectopic ossifications they did not appear to be axial, and the characteristic skeletal stigmata of FOP were not mentioned. Garcia Filho et al 27 studied 25 cases of 'heterotopic ossification' including one of 'progressive myositis ossificans' which may represent an instance of FOP.…”

Section: Discussionmentioning

confidence: 93%

Fibrodysplasia ossificans progressiva: case report

Nucci

Queiróz

Santos

et al. 2000

Arq. Neuro-Psiquiatr.

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-Fibrodysplasia ossificans progressiva is a rare genetic disease characterized by widespread soft tissue ossification and congenital stigmata of the extremities. We report on a male child followed for ten years since the age of 3 years and 9 months, when the diagnosis was made. He was born with bilateral hypoplasic hallux valgus and ventricular septal defect, corrected by transsternal approach when 32 months old. Restriction of neck mobility followed and foci of ectopic ossification appeared. Four crises of disease exacerbation were treated with oral prednisone and/or other antiinflammatory drugs. Sodium etidronate 5 to 10 mg/kg/day was prescribed intermittently during about six years but was discontinued due to osteopenia. The disease course has been relentless, with severe movement restriction including the chest wall. A review showed few similar case reports in the Brazilian literature. We revisit the criteria for diagnosis and the essentials of management and treatment.KEY WORDS: fibrodysplasia ossificans progressiva, myositis ossificans, muscle biopsy, rigid spine, Tc-MDP scan, etidronate treatment. Fibrodisplasia ossificante progressiva: relato de casoRESUMO -Fibrodisplasia ossificante progressiva é uma doença genética rara, caracterizada por ossificação disseminada em tecidos moles e estigmas congênitos nas extremidades. Relatamos sobre uma criança do sexo masculino, branca, que vem sendo acompanhada desde seus 3 anos e 9 meses quando diagnosticamos a doença. Nascida com halux valgo hipoplásico bilateral e defeito do septo interventricular, submeteu-se a correção cirúrgica através de esternotomia, aos 32 meses de vida. Seguiram-se progressiva restrição de movimentos cervicais e aparecimento de nódulos duros e dolorosos em regiões paravertebrais cérvico-torácicas. Em dez anos, assistimos a quatro episódios bem definidos de exacerbação da doença, com acréscimos de ossificação ectópica. Nessas ocasiões, prescrevíamos prednisona oral e/ou antiinflamatórios não hormonais. Etidronato de sódio, 5 a 10 mg/ kg/dia, foi utilizado em períodos de dois ou três meses, com intervalos de dois meses, durante seis anos. Osteopenia obrigou-nos a interromper o uso do quelante. A evolução tem sido inexorável, com limitação intensa de movimentos torácicos e corpóreos. A revisão da literatura brasileira revelou poucos casos semelhantes. Enfatizamos os critérios para diagnóstico e princípios básicos de tratamento. PALAVRAS-CHAVE: fibrodisplasia ossificante progressiva, miosite ossificante, biópsia muscular, espinha rígida, cintilografia com MDP99m

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Fibrodisplasia ossificante progressiva

Cited by 6 publications

References 8 publications

Reply to Dua SG et al.

Reply to Dua SG et al.

Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva: case report

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