Fibrodysplasia ossificans progressiva: case report

Abstract

-Fibrodysplasia ossificans pro g ressiva (FOP) is a rare autosomal dominant disorder characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. We re p o rt on a nine-year-old girl with clinical and radiological features of FOP. She was b o rn with bilateral hallux valgus and at the age of nine presented an indurate mass in the left cervical region that was painful. A significant decreased range of motion in all levels of the spine and shoulder girdle was found. The radiographs showed heterotopic ossification in the thoracic region. The patient had two outbreaks of the disease ("flare-ups") that were treated with prednisone 2 mg/kg/day for four days. After the "flare-ups", she had a continuous therapy with a Cox-2 inhibitor (25 mg/day) and a leukotriene inhibitor, montelukast (10 mg/day).KEY WORDS: fibrodysplasia ossificans pro g ressiva, myositis ossificans pro g ressiva, myositis ossificans, heterotopic ossification.Fibrodisplasia ossificante progressiva: relato de caso RESUMO -A fibrodisplasia ossificante pro g ressiva (FOP) é doença rara, autossômica dominante, caracterizada por ossificação heterotópica pro g ressiva pós-natal do tecido conjuntivo e malformação congênita dos háluces. Relatamos o caso de menina de nove anos com o quadro clínico-radiológico típico de FOP, nascida com hálux valgo bilateral e que aos 9 anos de idade apresentou massa dolorosa, de consistência e n d u recida, sem sinais inflamatórios, situada na região cervical. Adicionalmente, era possível observar diminuição importante da movimentação em todos os níveis da coluna vertebral e da cintura escapular. A avaliação radiológica revelou a presença de ossificações heterotópicas na região torácica e malform a ç ã o bilateral dos háluces. A paciente teve outros dois surtos da doença, que foram tratados com cort i c o s t e r ó i d e oral por quatro dias, (2 mg/kg/dia) seguido por tratamento prolongado com inibidores da Cox-2 (25 mg/dia) e com inibidor de leucotrienos (10 mg/dia).PA L AV R A S -C H AVE: fibrodisplasia ossificante pro g ressiva, miosite ossificante pro g ressiva, miosite ossificante, ossificação heterotópica.

Fibrodisplasia ossificante progressiva: diagnóstico em atenção primária

“…Ossification occurs in exacerbations of the disease, i.e., heterotopic ossification is manifested by the appearance of large and painful swellings of highly vascularized fibroproliferative tissue, often associated with trauma. These swellings begin to appear during the first decade of life, at 4 years on average (10,11) , coinciding with what was observed in the present case; children with FOP develop swellings formed from connective soft tissue, including fascia, ligaments, tendons, and skeletal muscle. These swellings progress until being ossified, firstly and typically affecting neck and upper back, making them stiff (4,9,12) ; in the case that motivated this report, axial stiffness was the first functional change experienced by the patient.…”

“…During the course of the disease, according to what was described in cases reported worldwide (9)(10)(11) and to the analysis of the present case, FOP lesions may appear suddenly and cause severe inflammation within few hours. If a biopsy is performed in the early lesion, it could be confounded with several types of cancer, because a new bone is being formed through an endocondral process with massive cell proliferation (7,8) .…”

“…Individuals with FOP appear normal at birth except for the characteristic malformation of the great toes (3,4,10,11) , which was noticed by the parents of the girl reported in the present study, but they did not pay much attention to this, since it did not cause functional changes. As for treatment, there are anecdotal reports on the efficacy of corticoids in limiting inflammation and progression of heterotopic ossification during flare-ups, which means that if prednisone is administered at a 2mg/Kg/d dose during 4 days, starting within the first 24 hours after the flare-up, the intense inflammation and tissular edema observed in the first stages of ossification will be reduced.…”

“…Because FOP diagnosis is made clinically, it is possible to establish it in the primary health care setting, based on the clinical features that define the disease: malformation of the great toes and progressive heterotopic ossification (3,4,6,(9)(10)(11) . Individuals with FOP appear normal at birth except for the characteristic malformation of the great toes (3,4,10,11) , which was noticed by the parents of the girl reported in the present study, but they did not pay much attention to this, since it did not cause functional changes.…”

Fibrodisplasia ossificante progressiva: relato de caso

“…At birth, the child's skeleton is apparently normal; however, it already usually exhibits the first signs of the disease, which are varied skeletal malformations, the main one being malformation of the halluces (2) . This characteristic is present in 95% of patients with FOP.…”