Letter to the Editor
Polyostotic fibrous dysplasia. Important facts that the rheumatologist should know
Displasia fibrosa poliostótica. Datos importantes que el reumatólogo debe conocer
Ana Isabel Turrión Nievesa,b,
, Rafael Martín Holguerab, María Liz Romero Bogadoa, Ana Isabel Sánchez-Atrioa
Corresponding author
a Servicio de ESI-Reumatología, Hospital Universitario Príncipe de Asturias, Departamento de Medicina especialidades médicas, Alcalá de Henares, Madrid, Spain
b Departamento de Cirugía y Ciencias Médico Sociales, Unidad docente de Anatomía y Embriología Humanas, Universidad de Alcalá de Henares, Alcalá de Henares, Madrid, Spain
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Important facts that the rheumatologist should know" "tieneTextoCompleto" => true "saludo" => "To the Editor," "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "403" "paginaFinal" => "404" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Ana Isabel Turrión Nieves, Rafael Martín Holguera, María Liz Romero Bogado, Ana Isabel Sánchez-Atrio" "autores" => array:4 [ 0 => array:4 [ "nombre" => "Ana Isabel" "apellidos" => "Turrión Nieves" "email" => array:1 [ 0 => "anaturrion@hotmail.com" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "Rafael" "apellidos" => "Martín Holguera" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "María Liz" "apellidos" => "Romero Bogado" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 3 => array:3 [ "nombre" => "Ana Isabel" "apellidos" => "Sánchez-Atrio" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicio de ESI-Reumatología, Hospital Universitario Príncipe de Asturias, Departamento de Medicina especialidades médicas, Alcalá de Henares, Madrid, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Departamento de Cirugía y Ciencias Médico Sociales, Unidad docente de Anatomía y Embriología Humanas, Universidad de Alcalá de Henares, Alcalá de Henares, Madrid, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Displasia fibrosa poliostótica. Datos importantes que el reumatólogo debe conocer" ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Fibrous dysplasia is a monostotic or polyostotic bone growth disorder caused by mosaicism involving the mesenchymal tissue. The presenting signs include pain and spontaneous fractures. Last year, Meneses et al. described a case in this journal<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">1</span></a> and, in this letter, we report another.</p><p id="par0010" class="elsevierStylePara elsevierViewall">A year ago, a 36-year-old man was referred to us with pain and a significant increase in his alkaline phosphatase levels: 658<span class="elsevierStyleHsp" style=""></span>U/l (normal range: 40–130). He had never been examined by a rheumatologist, despite the fact that he had been diagnosed as having polyostotic fibrous dysplasia at the age of 5 years. He had undergone cranioplasty twice for cranial volume reduction and decompression surgery on another 2 occasions to relieve pressure on the left optic nerve. He had had a clavicular fracture and, shortly before our first encounter, fracture of left femur, without previous trauma, but with the fracture line over preexisting osseous cystic lesions. The examination revealed a head circumference of 67<span class="elsevierStyleHsp" style=""></span>cm, hypertelorism and thoracolumbar scoliosis, with a lump in left costal region that was painful on palpation. Moreover, he presented with right-sided coxa vara and leg length discrepancy. The patient was treated with pamidronate (180<span class="elsevierStyleHsp" style=""></span>mg/iv every 6 months), which relieved his symptoms and reduced his alkaline phosphatase level by over 20% to 390 U/l.</p><p id="par0015" class="elsevierStylePara elsevierViewall">This disease is caused by a point mutation (activation of the <span class="elsevierStyleItalic">GNAS1</span> gene) in part of the bone tissue.<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">2,3</span></a> It is characterized by the coexistence of cells having the genetic alteration and normal cells (mosaicism). This mutation induces an expansion of osteoprogenitor cells and their accumulation in the bone marrow spaces, provoking localized hematopoietic tissue loss and bone marrow fibrosis. The collagen shows changes in orientation and biochemical composition. Markers of bone remodeling may be elevated, as occurred in our patient. It is usually asymptomatic and the diagnosis is incidental, although there may be pain, swelling, deformity and/or neurological involvement. Seventy percent of the cases are diagnosed before the age of 30 years.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a> The dysplastic tissue is highly vascularized, and is prone to spontaneous bleeding with subsequent cyst formation. The bones widen and the cortical bone thins, and spontaneous fractures can occur as a complication when the condition affects weight-bearing long bones. The presence of intralesional cystic lesions measuring over 2.5<span class="elsevierStyleHsp" style=""></span>cm in diameter increases the risk.<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">It can affect several adjoining cranial bones, obliterating the sutures, compress cranial nerve pairs at their exit or affect structures of the middle ear.</p><p id="par0025" class="elsevierStylePara elsevierViewall">The changes observed in plain radiography are variable, depending on the proportion of osseous and fibrous components of the lesion and on its location.</p><p id="par0030" class="elsevierStylePara elsevierViewall">Treatment depends on the presenting signs, and ranges from a wait and see attitude, curettage of the lesions, correction of the deformities and nerve decompression,<a class="elsevierStyleCrossRef" href="#bib0075"><span class="elsevierStyleSup">5</span></a> to treatment with bisphosphonates in polyostotic forms with active bone remodeling markers. In the monostotic forms, complete ablation of the lesion prevents recurrence. The rate of recurrences after curettage and grafting is high, especially in children. Thus, its use on a routine basis is not recommended, and it is reserved for the decompression of nerve structures.</p><p id="par0035" class="elsevierStylePara elsevierViewall">To this day, there is no curative treatment for this disease. Uncontrolled studies have demonstrated the utility of pamidronate,<a class="elsevierStyleCrossRef" href="#bib0080"><span class="elsevierStyleSup">6</span></a> which improves even the radiological changes and the physical aspect of the patient,<a class="elsevierStyleCrossRef" href="#bib0085"><span class="elsevierStyleSup">7</span></a> basically when the facial skeleton is affected. The use of bisphosphonates has been shown to reduce the painful symptoms, with a decrease in remodeling markers and an increase in bone mineral density, and even results in the filling of cysts and cortex thickening.<a class="elsevierStyleCrossRef" href="#bib0090"><span class="elsevierStyleSup">8</span></a> In another study, a reduced incidence of fractures was observed.<a class="elsevierStyleCrossRef" href="#bib0095"><span class="elsevierStyleSup">9</span></a></p><p id="par0040" class="elsevierStylePara elsevierViewall">A pediatric patient treated with denosumab because of the inefficacy of the bisphosphonates developed severe secondary effects.<a class="elsevierStyleCrossRef" href="#bib0100"><span class="elsevierStyleSup">10</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Chemotherapy and radiotherapy are not effective, and the latter can facilitate fractures and predispose the patient, albeit rarely (0.4%), to malignant transformation.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">We consider notable the delay in the referral of this patient to our department, despite the elevation of his alkaline phosphatase levels and his pain, a circumstance that suggests a lack of knowledge of the possibility of using beneficial drug therapies. The physicians who may at some time treat these patients should be aware of the risk of secondary fractures in weight-bearing bones when cystic lesions greater than 2.5<span class="elsevierStyleHsp" style=""></span>cm in diameter are observed.<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">4</span></a></p></span>" "pdfFichero" => "main.pdf" "tienePdf" => true "NotaPie" => array:1 [ 0 => array:2 [ "etiqueta" => "☆" "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as: Turrión Nieves AI, Martín Holguera R, Romero Bogado ML, Sánchez-Atrio AI. Displasia fibrosa poliostótica. Datos importantes que el reumatólogo debe conocer. Reumatol Clin. 2015;11:403–404.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0055" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Displasia fibrosa poliostótica: presentación de un caso" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "C.F. Meneses" 1 => "A. Egües" 2 => "M. 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| Year/Month | Html | Total | |
|---|---|---|---|
| 2024 November | 6 | 4 | 10 |
| 2024 October | 105 | 26 | 131 |
| 2024 September | 99 | 14 | 113 |
| 2024 August | 141 | 35 | 176 |
| 2024 July | 168 | 30 | 198 |
| 2024 June | 110 | 35 | 145 |
| 2024 May | 99 | 31 | 130 |
| 2024 April | 115 | 27 | 142 |
| 2024 March | 104 | 34 | 138 |
| 2024 February | 70 | 24 | 94 |
| 2024 January | 85 | 26 | 111 |
| 2023 December | 94 | 29 | 123 |
| 2023 November | 79 | 23 | 102 |
| 2023 October | 95 | 31 | 126 |
| 2023 September | 131 | 37 | 168 |
| 2023 August | 78 | 20 | 98 |
| 2023 July | 70 | 19 | 89 |
| 2023 June | 70 | 28 | 98 |
| 2023 May | 100 | 29 | 129 |
| 2023 April | 72 | 12 | 84 |
| 2023 March | 73 | 26 | 99 |
| 2023 February | 65 | 36 | 101 |
| 2023 January | 58 | 21 | 79 |
| 2022 December | 70 | 34 | 104 |
| 2022 November | 90 | 41 | 131 |
| 2022 October | 71 | 27 | 98 |
| 2022 September | 96 | 36 | 132 |
| 2022 August | 94 | 42 | 136 |
| 2022 July | 119 | 40 | 159 |
| 2022 June | 120 | 54 | 174 |
| 2022 May | 110 | 40 | 150 |
| 2022 April | 121 | 49 | 170 |
| 2022 March | 129 | 52 | 181 |
| 2022 February | 118 | 36 | 154 |
| 2022 January | 124 | 34 | 158 |
| 2021 December | 75 | 40 | 115 |
| 2021 November | 94 | 37 | 131 |
| 2021 October | 76 | 54 | 130 |
| 2021 September | 59 | 35 | 94 |
| 2021 August | 48 | 36 | 84 |
| 2021 July | 60 | 44 | 104 |
| 2021 June | 98 | 37 | 135 |
| 2021 May | 113 | 37 | 150 |
| 2021 April | 321 | 160 | 481 |
| 2021 March | 194 | 20 | 214 |
| 2021 February | 131 | 34 | 165 |
| 2021 January | 100 | 26 | 126 |
| 2020 December | 122 | 27 | 149 |
| 2020 November | 99 | 18 | 117 |
| 2020 October | 81 | 11 | 92 |
| 2020 September | 79 | 27 | 106 |
| 2020 August | 59 | 19 | 78 |
| 2020 July | 34 | 28 | 62 |
| 2020 June | 53 | 31 | 84 |
| 2020 May | 56 | 12 | 68 |
| 2020 April | 46 | 22 | 68 |
| 2020 March | 22 | 14 | 36 |
| 2020 February | 2 | 0 | 2 |
| 2018 December | 1 | 0 | 1 |
| 2018 May | 5 | 0 | 5 |
| 2018 April | 68 | 4 | 72 |
| 2018 March | 53 | 8 | 61 |
| 2018 February | 40 | 1 | 41 |
| 2018 January | 66 | 6 | 72 |
| 2017 December | 17 | 6 | 23 |
| 2017 November | 20 | 5 | 25 |
| 2017 October | 18 | 7 | 25 |
| 2017 September | 16 | 6 | 22 |
| 2017 August | 18 | 5 | 23 |
| 2017 July | 21 | 10 | 31 |
| 2017 June | 32 | 8 | 40 |
| 2017 May | 36 | 5 | 41 |
| 2017 April | 27 | 4 | 31 |
| 2017 March | 15 | 6 | 21 |
| 2017 February | 15 | 2 | 17 |
| 2017 January | 21 | 11 | 32 |
| 2016 December | 55 | 8 | 63 |
| 2016 November | 32 | 7 | 39 |
| 2016 October | 41 | 9 | 50 |
| 2016 September | 45 | 5 | 50 |
| 2016 August | 33 | 2 | 35 |
| 2016 July | 35 | 3 | 38 |
| 2016 January | 0 | 39 | 39 |
| 2015 December | 4 | 14 | 18 |
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