Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset?
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder with no definitive treatment options available yet, except for physiotherapy and bisphosphonates. Due to its initial presentation with multiple lumps in the body, it is often misdiagnosed as a benign tumour most commo...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2019-12-01
|
| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/799 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850042127394799616 |
|---|---|
| author | Amit Sharma Dhruv Maini Gaurang Agarwal Parul Sharma Lalit Maini |
| author_facet | Amit Sharma Dhruv Maini Gaurang Agarwal Parul Sharma Lalit Maini |
| author_sort | Amit Sharma |
| collection | DOAJ |
| description |
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder with no definitive treatment options available yet, except for physiotherapy and bisphosphonates. Due to its initial presentation with multiple lumps in the body, it is often misdiagnosed as a benign tumour most commonly being an osteochondroma or Olliers syndrome. Delay in diagnosis not only delays the management but can also expose the patient to unnecessary interventions. Moreover, earlier diagnosis can also make the patient aware of the precautions to be taken. So our remark is `can we diagnose this disease right at the outset`? We present a case of a 10 year old boy, who had all the classical features of FOP yet was misdiagnosed. Therefore, classical hallmark features of this disease are highlighted in this case report which can be picked up easily by any clinician to reach to a definitive diagnosis as early as possible avoiding unnecessary iatrogenic insult.
|
| format | Article |
| id | doaj-art-463ec4b477b64f10b27ac35479738b2f |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-463ec4b477b64f10b27ac35479738b2f2025-08-20T02:55:38ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-12-0161610.24953/turkjped.2019.06.021Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset?Amit Sharma0Dhruv Maini1Gaurang Agarwal2Parul Sharma3Lalit Maini4Department of Orthopaedics, Maulana Azad Medical College, Delhi.Gajra Raja Medical College, Gwalior, India.Department of Orthopaedics, Maulana Azad Medical College, Delhi.Department of Physiotherapy, Jamia Milia Islamia, Delhi.Department of Orthopaedics, Maulana Azad Medical College, Delhi. Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder with no definitive treatment options available yet, except for physiotherapy and bisphosphonates. Due to its initial presentation with multiple lumps in the body, it is often misdiagnosed as a benign tumour most commonly being an osteochondroma or Olliers syndrome. Delay in diagnosis not only delays the management but can also expose the patient to unnecessary interventions. Moreover, earlier diagnosis can also make the patient aware of the precautions to be taken. So our remark is `can we diagnose this disease right at the outset`? We present a case of a 10 year old boy, who had all the classical features of FOP yet was misdiagnosed. Therefore, classical hallmark features of this disease are highlighted in this case report which can be picked up easily by any clinician to reach to a definitive diagnosis as early as possible avoiding unnecessary iatrogenic insult. https://turkjpediatr.org/article/view/799bisphosphonatesfibrodysplasia ossificans progressivaheterotopicossificationosteochondroma |
| spellingShingle | Amit Sharma Dhruv Maini Gaurang Agarwal Parul Sharma Lalit Maini Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? The Turkish Journal of Pediatrics bisphosphonates fibrodysplasia ossificans progressiva heterotopic ossification osteochondroma |
| title | Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? |
| title_full | Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? |
| title_fullStr | Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? |
| title_full_unstemmed | Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? |
| title_short | Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? |
| title_sort | fibrodysplasia ossificans progressiva can we diagnose it right at the outset |
| topic | bisphosphonates fibrodysplasia ossificans progressiva heterotopic ossification osteochondroma |
| url | https://turkjpediatr.org/article/view/799 |
| work_keys_str_mv | AT amitsharma fibrodysplasiaossificansprogressivacanwediagnoseitrightattheoutset AT dhruvmaini fibrodysplasiaossificansprogressivacanwediagnoseitrightattheoutset AT gaurangagarwal fibrodysplasiaossificansprogressivacanwediagnoseitrightattheoutset AT parulsharma fibrodysplasiaossificansprogressivacanwediagnoseitrightattheoutset AT lalitmaini fibrodysplasiaossificansprogressivacanwediagnoseitrightattheoutset |