FIBRODYSPLASIA ((MYOSITIS)) OSSIFICANS progressiva is rare herditary connective tissue characterized by widespread soft tissue ossification and bilateral hypoplastic hallux valgus (short big toe). Onset is typically in childhood and PROGRESSIVE involvement of the spine and proximal extermities leades to immobility and articular dysfunction. No effective treatment is known but it is important to avoid exacerbating factors such as biopsy, operations and intramuscular injection. We present here 16 years old man with severe restriction in pripheral and axial articular movement, bilatral hallux valgus, foci of ectopic ossification in the different site of body and conductive hearing loss in right ear.

FIBRODYSPLASIA OSSIFICANS progressiva (FOP) is an extremely rare autosomal dominant disorder having variable expressivity with complete penetrance. FOP incidence has been estimated to be 1 per 2 million. FOP caused by mutations in ACVR1 gene encoding bone morphogenetic protein type-1 receptor. To date, 15 types of mutations have been reported. The majority of cases were determined to be the rsult of a new mutation occuring sporadically. Here we report a 20 years old girl who's suffering FOP for 11 years.

BACKGROUND AND OBJECTIVE: FIBRODYSPLASIA OSSIFICANS PROGRESSIVE (FOP) or (MYOSITIS) OSSIFICANS progressiva is a rare hereditary connective tissue disorder. Diagnosis can be made by the typical clinical features (congenital malformations of the great toes and hallux valgus deformity) and ectopic ossification. Early diagnosis can lead to avoidance of additional harmful diagnostic and treatment procedures (such as injection and biopsy) and trauma prevention. In this report we present 2 typical cases of FOP with early and delay diagnosis. CASE: The first case was an 11 year-old girl. The first symptom was painless nodule on the skull at 2.9 years old. She had congenital malformations of the great toe and hallux valgus deformity in both feet. According to clinical findings, the diagnosis was confirmed at 3 years. She was on etidronate and she had regular follow-up every 6 months. Now, she had no any disability. The second case was a 12 year-old boy. He had had a neck mass at 18 months and he was repeatedly visited by different physicians and some unnecessary tests and procedures were done for him, but the diagnosis had a delay until 8 years old, when he referred to our pediatric rheumatology clinic. He had hallux valgus deformity and congenital malformations of the great toe in both feet. Several ectopic ossifications had occurred in abdomen wall, upper and lower limbs. Now, he walks but he cannot sit. CONCLUSION: Because tissue damage serves as a focus for ossification, early diagnosis can protect the patient from trauma and avoidance of unnecessary procedures.

FIBRODYSPLASIA OSSIFICANS progressiva is a connective tissue disease. The prompt diagnosis is of utmost importance since surgical interventions are not indicated except in rare cases. We present a 5-year girl admitted due to the swelling on the back of her neck developing on her right scapula and shoulder during the recent two mounts. The course of disease was PROGRESSIVE in which gradually resulted in limitation of the range of motion of shoulder joint and neck. There were some other clinical findings such as ossification in distal port of the right femur and increased uptake in bone scanning at the same time.

FIBRODYSPLASIA OSSIFICANS progressiva (FOP) is a rare, dominantly inherited connective tissue disorder, characterized by congenital malformations of the great toes and thumbs and PROGRESSIVE heterotopic ossification of soft tissues of the trunk and extremities. The ossifications typically appear within the first decade of life and result in PROGRESSIVE ankylosis of the joints and severe disability. So far, more than 600 cases have been reported worldwide and presently there is no effective treatment or prevention. During the early phase, particularly prior to the development of calcifications, it is often mis-diagnosed as soft tissue sarcomas or fibromatoses, which considerably delays the diagnosis, and therefore leads to unnecessary and perhaps life threatening treatments. Herein, we present a case of a 21-year-old male with FOP diagnosed late in the course of his disease.

FIBRODYSPLASIA OSSIFICANS progressiva is a rare and disabling syndrome, which is characterized by heterotopic ossifications and skeletal deformities. So far, around 200 patients with FIBRODYSPLASIA OSSIFICANS progressiva have been reported in the world literature. Herein, we analyze the clinical records of 7 known cases of FIBRODYSPLASIA OSSIFICANS progressiva from Iran who were admitted to the pediatrics wards of our centers between 1983 and 2002, and present the radiologic findings.

FIBRODYSPLASIA OSSIFICANS progressiva (FOP) is a rare autosomal dominant disorder, characterized by painful swelling of muscles and connective tissue in the early years of life, consequently leading to ossification at a mean age of 4-5 years. We report FOP in a 2-year-old boy with palpable masses in the frontal and lower cervical paraspinal and left periscapular muscles. He was born with hallux valgus. Despite this hallmark, he was referred to the hospital with the primary diagnosis of hematoma, but further investigation indicated FOP. The patient was discharged from the hospital with non steroidal anti-inflammatory drugs (NSAID) and education of the parents. The importance of this case was that in spite of the early occurrence of the typical presentation of FOP for more than one year and the fact that the patient’s mother was a physician who had consulted with many specialists, the diagnosis had been missed. This indicates that the general physicians, radiologists and other specialists’ awareness and knowledge of FOP is insufficient.