Fibrodysplasia Ossificans Progressive Two Forms of a Disease

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 ossifi...

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Autores principales: Y Aghighi, F Abolnejadian, SR Raeiskarami, V Ziaee
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Publicado: Babol University of Medical Sciences 2010
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Acceso en línea:https://doaj.org/article/9bf8bdf8b8a04bd48ed1e40131c7f863
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spelling oai:doaj.org-article:9bf8bdf8b8a04bd48ed1e40131c7f8632021-11-10T09:00:15ZFibrodysplasia Ossificans Progressive Two Forms of a Disease1561-41072251-7170https://doaj.org/article/9bf8bdf8b8a04bd48ed1e40131c7f8632010-04-01T00:00:00Zhttp://jbums.org/article-1-3417-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND 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.Y Aghighi,F Abolnejadian,SR RaeiskaramiV ZiaeeBabol University of Medical Sciencesarticlefibrodysplasia ossificans progressivehallux valgusmyositis ossificansstone manMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 12, Iss 1, Pp 95-100 (2010)
institution DOAJ
collection DOAJ
language EN
FA
topic fibrodysplasia ossificans progressive
hallux valgus
myositis ossificans
stone man
Medicine
R
Medicine (General)
R5-920
spellingShingle fibrodysplasia ossificans progressive
hallux valgus
myositis ossificans
stone man
Medicine
R
Medicine (General)
R5-920
Y Aghighi,
F Abolnejadian,
SR Raeiskarami
V Ziaee
Fibrodysplasia Ossificans Progressive Two Forms of a Disease
description 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.
format article
author Y Aghighi,
F Abolnejadian,
SR Raeiskarami
V Ziaee
author_facet Y Aghighi,
F Abolnejadian,
SR Raeiskarami
V Ziaee
author_sort Y Aghighi,
title Fibrodysplasia Ossificans Progressive Two Forms of a Disease
title_short Fibrodysplasia Ossificans Progressive Two Forms of a Disease
title_full Fibrodysplasia Ossificans Progressive Two Forms of a Disease
title_fullStr Fibrodysplasia Ossificans Progressive Two Forms of a Disease
title_full_unstemmed Fibrodysplasia Ossificans Progressive Two Forms of a Disease
title_sort fibrodysplasia ossificans progressive two forms of a disease
publisher Babol University of Medical Sciences
publishDate 2010
url https://doaj.org/article/9bf8bdf8b8a04bd48ed1e40131c7f863
work_keys_str_mv AT yaghighi fibrodysplasiaossificansprogressivetwoformsofadisease
AT fabolnejadian fibrodysplasiaossificansprogressivetwoformsofadisease
AT srraeiskarami fibrodysplasiaossificansprogressivetwoformsofadisease
AT vziaee fibrodysplasiaossificansprogressivetwoformsofadisease
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