Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China

Zhang, Junmei; Li, Caifeng; Ke, Shuang-Ying; Piao, Yurong; Han, Tongxin; Kuang, Weiying; Wang, Jiang; Deng, Jianghong; Tan, Xiaohua; Li, Chao

doi:10.1007/s12519-019-00302-x

Cited by 6 publications

(3 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Based on clinical and radiological features and the molecular results of the ACVR1 sequencing, the classic FOP form with the most frequently reported pathogenic variant worldwide was diagnosed. The evolution in the present case is similar to previous reports in patients with the same variant, with heterotopic ossification foci appearing in the back, neck, and scapulas between one and 15 years of age, bilateral shortening with a medial deviation of the first toe since birth (virtually pathognomonic) and progression of the disease with the appearance of more ossification foci, and ankylosis limiting movement [12][13][14] . This mutation leads to the abnormal function of ACVR1, resulting in increased activation of the BMP pathway (osteogenic ligand) when exposed to the inflammatory stimulus secondary to trauma, giving rise to heterotopic ossification foci.…”

Section: Discussionsupporting

confidence: 88%

Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans

Ordóñez-Labastida¹,

Cárdenas‐Conejo²,

Huicochea-Montiel³

et al. 2021

BMHIM

View full text Add to dashboard Cite

Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually secondary to trauma. The ossification foci generate pain, joint ankyloses, and restricted movement. Congenital shortening and medial deviation first metatarsal of the foot is a distinctive feature. This report aimed to present an educational value case of a patient with clinical, imaging, and molecular diagnosis of progressive fibrodysplasia ossificans, recognized as a rare condition that severely affects the quality of life. Case report: We present the case of a 6-year-old female patient with lumps in the right scapular and dorsal region, progressive joint rigidity, and short first metatarsal medially deviated since birth. By imaging studies, we established the diagnosis of progressive fibrodysplasia ossificans. Sanger sequencing of ACVR1 reported c.617G>A (p.Arg206His). Conclusions: Confirmation of the diagnosis allowed genetic counseling, including a comprehensive explanation of the disease's natural history and measures to prevent its rapid progression.

show abstract

Section: Discussionsupporting

confidence: 88%

Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans

Ordóñez-Labastida¹,

Cárdenas‐Conejo²,

Huicochea-Montiel³

et al. 2021

BMHIM

View full text Add to dashboard Cite

show abstract

“…Thus, urinary albumin can serve as a biomarker for LN [ 31 , 32 ]. Complement is associated with the pathogenesis of SLE, and in particular, tissue damage in SLE occurs following the activation of complement and production of immune complexes [ 33 , 34 ]. Therefore, we verified whether TIP1 treatment can improve lupus symptoms by monitoring various indicators of SLE.…”

Section: Discussionmentioning

confidence: 99%

Toll-like Receptor Signaling Inhibitory Peptide Improves Inflammation in Animal Model and Human Systemic Lupus Erythematosus

Baek

Choi

Lee

et al. 2021

IJMS

View full text Add to dashboard Cite

Toll-like receptors (TLRs) play a major role in the innate immune system. Several studies have shown the regulatory effects of TLR-mediated pathways on immune and inflammatory diseases. Dysregulated functions of TLRs within the endosomal compartment, including TLR7/9 trafficking, may cause systemic lupus erythematosus (SLE). TLR signaling pathways are fine-tuned by Toll/interleukin-1 receptor (TIR) domain-containing adapters, leading to interferon (IFN)-α production. This study describes a TLR inhibitor peptide 1 (TIP1) that primarily suppresses the downstream signaling mediated by TIR domain-containing adapters in an animal model of lupus and patients with SLE. The expression of most downstream proteins of the TLR7/9/myeloid differentiation factor 88 (MyD88)/IFN regulatory factor 7 signaling was downregulated in major tissues such as the kidney, spleen, and lymph nodes of treated mice. Furthermore, the pathological analysis of the kidney tissue confirmed that TIP1 could improve inflammation in MRL/lpr mice. TIP1 treatment downregulated many downstream proteins associated with TLR signaling, such as MyD88, interleukin-1 receptor-associated kinase, tumor necrosis factor receptor-associated factor 6, and IFN-α, in the peripheral blood mononuclear cells of patients with SLE. In conclusion, our data suggest that TIP1 can serve as a potential candidate for the treatment of SLE.

show abstract

“…Clinically, FOP emerges in childhood, forming heterotopic bone in areas like the axial skeleton and proximal extremities. Early symptoms can lead to misdiagnosis, but over time, swellings become rigid bony masses, limiting mobility and causing disability [ 3 ]. Diagnosis involves clinical indicators, radiographic techniques, and genetic testing for the ACVR1 mutation, although testing may not always be accessible [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report

Saeed,

Naveed,

Maktabijahromi

et al. 2023

Cureus

View full text Add to dashboard Cite

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP.

show abstract

Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China

Cited by 6 publications

References 18 publications

Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans

Clinical, radiological, and molecular diagnosis of progressive fibrodysplasia ossificans

Toll-like Receptor Signaling Inhibitory Peptide Improves Inflammation in Animal Model and Human Systemic Lupus Erythematosus

An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report

Contact Info

Product

Resources

About