scholarly journals Characteristics and Treatment Results of 5 Patients with Fibrous Dysplasia and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Nilufer Ozdemir Kutbay ◽  
Banu Sarer Yurekli ◽  
Emine Kartal Baykan ◽  
Serap Baydur Sahin ◽  
Fusun Saygili
Keyword(s):  
Medical Treatment ◽  
Fibrous Dysplasia ◽  
Facial Asymmetry ◽  
Response To Treatment ◽  
Limited Data ◽  
Mccune Albright Syndrome ◽  
Femur Fractures ◽  
Turnover Markers ◽  
Albright Syndrome ◽  
Rare Bone Disease

Aim. Fibrous dysplasia is a rare bone disease caused by missense mutation leading to abnormal fibroblast and osteoblast proliferation and increased bone resorption. FD can present in monostotic or polyostotic forms. About 3% of FD could be in association with McCune-Albright syndrome (MAS). Because FD is a rare disease, there is limited data in the literature about characteristics of disease and response to treatment.Methods. We present our five cases of FD with general properties and their responses to medical treatment.Results. Two of our patients had polyostotic and three had monostotic FD. One of the polyostotic patients had MAS. One of our patients had surgery for femur fractures, facial asymmetry, and findings of compression. Four patients were given pamidronate; one was given zoledronic acid as bisphosphonate treatment. Bone pain was relieved in all patients with medical treatment.Conclusion. There was a decrease in bone turnover markers to some degree with medical treatment but no radiological improvement was observed.

scholarly journals Denosumab reduces lesional Fluoride skeletal burden on Na[18F]F PET-CT in patients with Fibrous Dysplasia/McCune-Albright syndrome

2021 ◽  
Author(s):  
Wouter van der Bruggen ◽  
Dennis Vriens ◽  
Maartje E Meier ◽  
Frits Smit ◽  
Elizabeth M Winter ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Case Series ◽  
Bone Diseases ◽  
Mccune Albright Syndrome ◽  
Pain Scores ◽  
Academic Center ◽  
Pet Ct ◽  
Turnover Markers ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Context The correlation between Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS) skeletal disease burden on Na[18F]F-PET-CT and serum bone turnover markers (BTMs) was recently described. The effect of treatment on lesional fluoride burden in FD/MAS is unknown. Objective To investigate treatment response measurements in FD/MAS patients who underwent Na[18F]F-PET-CT and treatment with antiresorptives. Design Observational case series. Setting Academic center of expertise for rare bone diseases. Patients 15 consecutive patients with FD/MAS with baseline and follow-up Na[18F]F-PET-CT-parameters of healthy bone and FD lesions, BTMs and pain scores at start of denosumab (n=8) and non-denosumab patients (n=7). Main outcome(s) On Na[18F]F-PET-CT the Volumetric measures of FD-burden (FTV) and ‘Fraction affected skeleton’ (FAS), represented the portion of the skeleton affected. This was correlated with BTMs and pain. Results Disease activity decreased significantly, with FTV 361cm 3 to 97cm 3, p=0.018 in denosumab-treated patients, not in non-denosumab patients (p=0.249). Serum P1NP and Alkaline Phosphatase (ALP) decreased significantly: 82ng/mL vs 55ng/mL, p=0.023 and 119 IU/L vs 84 IU/L, p=0.020, respectively. In denosumab-treated patients pain scores improved leading to pain medication reduction. This correlated with lesional uptake whilst healthy bone activity did not change. BTMs and FTV correlated positively, P1NP r=0.730; p<0.001 and ALP r=0.406; p=0.006, as dis change in BTMs and FTV: P1NP (p=0.032) and ALP (p=0.024). FAS strongly correlated with treatment-induced decrease in ALP (p=0.027) and P1NP (p=0.009). Conclusion Na[18F]F-PET-CT captured treatment-induced lesional changes which correlated with BTMs and pain reduction. Therefore Na[18F]F-PET-CT can be used as an objective local parameter of response to denosumab treatment in FD/MAS.

Fibrous dysplasia in McCune Albright syndrome; treatment and follow up

2015 ◽  
Author(s):  
Damla Gokeen ◽  
Samim Ozen ◽  
Nurhan Ozcan ◽  
Sukran Darcan
Keyword(s):  
Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Analyses of variable panoramic radiographic characteristics of maxillo-mandibular fibrous dysplasia in McCune-Albright syndrome

Oral Diseases ◽  
2004 ◽  
Vol 10 (1) ◽  
pp. 36-43 ◽  
Author(s):  
SO Akintoye ◽  
LL Otis ◽  
JC Atkinson ◽  
J Brahim ◽  
H Kushner ◽  
...  
Keyword(s):  
Fibrous Dysplasia ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Craniofacial Syndromes Part II: Atypical Facial Clefts, Romberg Syndrome, Moebius Syndrome, Fibrous Dysplasia, and Neurofibromatosis

2020 ◽  
Author(s):  
Francesca Saldanha ◽  
Cory M. Resnick ◽  
Carolyn R. Rogers-Vizena
Keyword(s):  
Fibrous Dysplasia ◽  
Treatment Plan ◽  
Moebius Syndrome ◽  
Hemifacial Atrophy ◽  
Mccune Albright Syndrome ◽  
Facial Clefts ◽  
Progressive Hemifacial Atrophy ◽  
Parry Romberg Syndrome ◽  
Albright Syndrome ◽  
Craniofacial Syndromes

This final article of the two-part craniofacial series continues to provide the embryologic and developmental foundations necessary to understand congenital craniofacial pathology. Clinical characteristics and molecular genetics needed to make an accurate diagnosis and formulate a treatment plan will be detailed for atypical craniofacial clefts, Moebius Syndrome, Fibrous Dysplasia, Progressive Hemifacial Atrophy (Parry-Romberg syndrome) and Neurofibromatosis. Details of the operations applied in treatment of these disorders are discussed in separate Scientific American: Plastic Surgery (SAPS) articles as referenced. This review contains 3 tables, and 10 figures, and 42 references. Keywords: craniofacial, Tessier cleft, atypical facial cleft, Romberg syndrome, Parry-Romberg syndrome, Moebius syndrome, fibrous dysplasia, McCune Albright syndrome, neurofibromatosis

scholarly journals McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism – case report

2016 ◽  
Vol 89 (4) ◽  
pp. 559-564
Author(s):  
Iulian Raus ◽  
Roxana Elena Coroiu
Keyword(s):  
Fibrous Dysplasia ◽  
Insufficiency Fracture ◽  
Endocrine Disorders ◽  
Appendicular Skeleton ◽  
Laboratory Findings ◽  
Mccune Albright Syndrome ◽  
Magnetic Resonance Imaging Mri ◽  
Albright Syndrome ◽  
The Right ◽  
Mccune Albright

McCune–Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level.The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune – Albright syndrome.

scholarly journals McCune-Albright Syndrome with Exophthalmos: A Case Report

2018 ◽  
Author(s):  
Jinrong Zhao ◽  
Jinguo Yu
Keyword(s):  
Clinical Practice ◽  
Fibrous Dysplasia ◽  
Skin Pigmentation ◽  
Rare Condition ◽  
Skeletal Deformity ◽  
Mccune Albright Syndrome ◽  
Case Presentation ◽  
Fibrous Dysplasia Of Bone ◽  
Albright Syndrome ◽  
Mccune Albright

Abstract Background: McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require the rapeutic support to reduce bone pain and prevent fractures and deformities.we reported 1 case of McCune-Albright syndrome with exophthalmos in clinical practice. Case presentation:A 35-year-old female was admitted to our hospital who complained about “skin pigmentation for 35 years, vaginal bleeding for 30 years and progressive skeletal deformity for 28 years and exophthalmos for 2 years. And after the examination, she was been diagnosed with“McCune-Albright syndrome with exophthalmos”.We highlighted the pathogenesis and development of the disease in this rare condition. Conclusion: McCune-Albright syndrome with exophthalmos due to multiple fibrous dysplasia is rare but can be seen in clinical practice.

scholarly journals McCune Albright Syndrome: A Case Report

2020 ◽  
Vol 40 (2) ◽  
pp. 134-137
Author(s):  
Subhana Thapa Karki ◽  
Vandana Jain
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Precocious Puberty ◽  
Genetic Disease ◽  
Clinical Presentation ◽  
Endocrine Disorders ◽  
Mccune Albright Syndrome ◽  
Café Au Lait Spots ◽  
Albright Syndrome ◽  
Mccune Albright

McCune Albright syndrome (MAS) is a very rare genetic disease characterised by any two of the following three findings: café au lait spots, polyosteotic fibrous dysplasia and endocrine disorders. The clinical presentation of MAS may vary depending on which of the various components of the syndrome predominate. Here, we report one case of MAS presenting with precocious puberty.

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