Displasia fibrosa monostótica simulando proceso neoformativo intraoral en una paciente con sida. Primer caso reportado en esta población / MONOSTOTIC FIBROUS DYSPLASIA SIMULATING A NEOPROLIFERATIVE INTRAORAL NEOPLASM IN A FEMALE WITH AIDS. FIRST CASE REPORTED IN THIS POPULATION

Objetivo: Los pacientes con enfermedad por el virus de la inmunodeficiencia humana suelen presentar lesiones orales, hasta en un 50% de los casos con diagnóstico de sida. La displasia fibrosa es una lesión intra-ósea caracterizada por una alteración del crecimiento y diferenciación de los osteoblastos debida a una mutación genética. Clínicamente se caracteriza por presentar una tumoración de lento crecimiento con dolor, deformidad ósea y, en ocasiones, fracturas ante traumas mínimos. Caso clínico: Se presenta una paciente con sida y tuberculosis diseminada que desarrolló una lesión ósea tumoral , con compromiso de paladar y encía superior derecha, cuyo diagnóstico histopatológico fue de displasia fibrosa de paladar óseo y maxilar superior. Conclusión: La displasia fibrosa debe incluirse en el diagnóstico diferencial de las lesiones tumorales orales de los pacientes con enfermedad VIH/sida.

Aim: Patients with human immunodeficiency virus infection usually have oral lesions, including up to 50% of patients diagnosed with AIDS. Fibrous dysplasia is an intra-bone lesion, characterized by an alteration of the growth and differentiation of osteoblastes produced by a genetic mutation. Clinically it is characterized by presenting a tumor of slow growth with pain, bone deformity and sometimes fractures to minimal trauma. Clinical case: Here we describe a patient with AIDS and disseminated tuberculosis who developed a large tumor lesion that involve the hard palate and the maxilla. Final histopathological diagnosis was of fibrous dysplasia involving the hard palate and the upper maxilla. Conclusion: fibrous dysplasia should be included in the differential diagnosis of intraoral tumor lesions in HIV/AIDS patients.

Fibrous dysplasia of the temporal bone: a review of 66 cases.

OBJECTIVES/HYPOTHESIS: Fibrous dysplasia is a condition of nonmalignant osseous change and may occur in a monostotic or polyostotic pattern, the latter potentially being associated with McCune-Albright syndrome. Symptoms are highly variable and dependent upon lesion location and size. STUDY DESIGN: Retrospective review. METHODS: Consecutive subjects with fibrous dysplasia of the temporal bone were evaluated between 2000 and 2013 at two tertiary academic referral centers. Main outcome measures included disease presentation, diagnostic evaluation, management strategy, and outcome. RESULTS: Sixty-six patients with fibrous dysplasia of the skull were found to have involvement of the temporal bone. The mean age at diagnosis was 25 years, 39 (59%) were female, and the mean duration of follow-up was 48 months. Six (11%) patients had monostotic disease, with the remaining 60 (89%) patients having the polyostotic form; 16 (24%) patients had McCune-Albright syndrome. The most common presenting complaint was headache (59%), followed by hearing loss (29%). The most common exam finding was cosmetic deformity (50%). Cholesteatoma (3%) and spontaneous cerebrospinal fluid fistula (1.5%) were found in a small percentage. No patients had evidence of motor cranial neuropathy by history or physical examination. CONCLUSIONS: The clinical presentation of fibrous dysplasia involving the temporal bone is variable. A growing number of patients are diagnosed incidentally through imaging, and since most patients experience a benign course, the majority can be followed clinically without need for intervention. LEVEL OF EVIDENCE: 4.

Fibrous dysplasia.

Fibrous dysplasia is a developmental abnormality of bone that is characterized by a highly disorganized mixture of immature fibrous tissue and fragments of immature trabecular bone. Fibrous dysplasia may arise as a single, discrete (monostotic) lesion or can occur with a more widespread distribution with multiple lesions that affect many bones (oligo- or polyostotic). Fibrous dysplasia is usually an isolated skeletal finding but can sometimes occur as a component of a multisystem developmental disorder known as McCune-Albright syndrome (MAS) that is also associated with endocrine hyperfunction (e.g. precocious puberty) and caf au lait cutaneous macules. The identification of activating mutations in GNAS in a subset of human GH-secreting pituitary tumors and autonomously functioning human thyroid tumors provided the initial basis for understanding the molecular pathophysiology of McCune-Albright syndrome and fibrous dysplasia. These observations led to the concept that activating mutations of the GNAS gene convert it into a putative oncogene referred to as gsp (Gsa or Gas). The classic radiographic feature of fibrous dysplasia is a hazy, radiolucent, or ground-glass, pattern resulting from the defective mineralization of immature dysplastic bone; it is usually strikingly different from the radiographic appearance of normal bone, calcified cartilage, or soft tissue. The surgical approach to fibrous dysplasia should in general be conservative. Recent research suggests that the WntlB-catenin pathway may play a role in fibrous dysplasia as patients with activating GNAS mutations specifically showed that Gas mutations activated Wnt/B-catenin signaling. Thus inhibition of 8-catenin signaling or silencing GNAS alleles that encode constitutively active Gsa molecules in fibrous dysplasia and McCune-Albright syndrome offer potential therapeutic promise and deserve further study. In summary fibrous dysplasia is a developmental abnormality of bone with a known molecular etiology; Further knowledge about the molecular pathology of fibrous dysplasia may lead to improved conservative therapies in the near future.

Displasia fibrosa da mandíbula / Fibrous dysplasia of mandible

A displasia fibrosa da mandíbula é uma patologia óssea benigna que representa cerca de 2% de todos os tumores ósseos. Relatamos o caso de uma paciente de 11 anos de idade, com queixa de dor em região mandibular esquerda há 1 semana, com história de abaulamento da mesma região há 3 meses. Após realização de exames de imagem, foi diagnosticado displasia fibrosa da mandíbula. O objetivo deste relato é revisar as principais características clínicas, radiológicas e possíveis tratamentos para o caso, dando a devida importância para o seguimento ambulatorial pós-tratamento

Fibrous dysplasia is a benign bone disease which represents about 2% of all bone tumors. Here we report the case of an 11-year-old who complained of pain at the left mandible area for a week, with history of arching in this area for 3 months. Imaging examinations led to the diagnosis of fibrous dysplasia of the mandible. The aim of this work is to review the main clinical and radiological characteristics and possible treatments for the case, giving due importance to ambulatory follow-up care

Tumours and tumour-like lesions of the hip in the paediatric age: a review of the Rizzoli experience.

Bone tumours and tumour-like lesions of the hip in children are rare. Signs and symptoms of these tumours are generally nonspecific. Delay of diagnosis is not uncommon. A high index of suspicion in young patients presenting with persistent pain and without history of trauma, that is unresolved with conservative therapy should prompt further investigation, including radiographs or computed tomography scan of the pelvis. In the experience of the Istituto Rizzoli, in patients less than 14 years (mean 9 years, ranged from 6 months to 14 years), 752 tumours and tumours-like lesions occurred in the pelvis or proximal femur, involving the hip. Tumour-like lesions accounted for 322 cases (simple bone cyst in 255, eosinophilic granuloma in 43, aneurismal bone cyst in 34), benign tumours for 340 cases (osteoid osteoma in 229, fibrous dysplasia in 63, exostosis in 48) and malignant tumours for 80 cases (Ewing's sarcoma in 53 and osteosarcoma in 27). The epidemiology, pathology, clinical presentation, and radiograph findings are discussed for each of these tumours.Treatment of these tumours differs from observation or minimally invasive treatment for most pseudotumoural lesions, intralesional excision or termoablation for benign bone tumours and wide resection for malignant bone tumours. In this latter group, chemotherapy is required and often administered pre- and postoperatively.

Fibrous dysplasia of the mandible: Surgical treatment with platelet-rich plasma and a corticocancellous iliac crest graft-report of a case.

This paper reports on an alternative treatment method for mandibular reconstruction in a very rare symptomatic adult form of fibrous dysplasia. The treatment included excision of all the dysplastic tissue excluding the inner cortex and the lower border of the mandible, where cryosurgery was applied. Platelet-rich plasma was added to the autogenous bone and used to fill dead spaces and interfaces. Three months after reconstruction, implants were inserted in the hard dense bone that showed no resorption. Seven years after surgery, the patient was completely asymptomatic and had an excellent cosmetic outcome. A very simple method, based on a new paradigm approach, provided excellent functional and cosmetic results avoiding complex reconstruction procedures and delayed hospitalization in a patient with fibrous dysplasia.

Monostotic fibrous dysplasia of temporal bone: report of two cases and review of its characteristics.

Fibrous dysplasia is a bone disorder of unknown origin characterized by slow, progressive replacement of bone by abnormal proliferative isomorphic fibrous tissue. The disease was first described by McCune and Bruch in 1937. Craniofacial involvement is found in only 10% of cases of the monostotic variety, while temporal bone involvement is rare. We report herein two cases of monostotic fibrous dysplasia involving temporal bone and briefly review the clinical implications and management of the disease.

Fibrous dysplasia.

Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors. Many of the asymptomatic lesions are found incidentally; the remainder present with symptoms of swelling, deformity, or pain. Fibrous dysplasia has been associated with multiple endocrine and nonendocrine disorders and with McCune-Albright and Mazabraud's syndromes. The etiology remains unclear, but molecular biology suggests a mutation in the G(s)alpha subunit and activation of c-fos and other proto-oncogenes. Fibrous dysplasia has a characteristic radiographic appearance. Most cases do not require intervention, but those that do usually are managed surgically with curettage, bone grafting, and, in some cases, internal fixation. When some intervention is necessary but surgery is not practical, treatment is with bisphosphonates. The prognosis generally is good, although poor outcomes are more frequent in younger patients and in those with polyostotic forms of the disease. The risk of malignant transformation is low.

Displasia fibrosa monostótica dos maxilares: revisão da literatura e relato de caso / Fibrous dysplasia of the jaws: report of a case and literature review

A displasia fibrosa é uma alteração óssea benigna do grupo das lesões displásicas na qual ocorre a substituição de tecido ósseo normal por tecido fibroso imaturo. O tipo monostótica consiste no surgimento da lesão em apenas um dos ossos da face, sendo esta forma a mais freqüente e menos severa desta condição. Dos ossos faciais a maxila é a mais afetada. Procedimento cirúrgico conservador e acompanhamento clínico são indicados para o tratamento. O cirurgião deve considerar o período de crescimento ósseo do paciente com o objetivo de evitar as recidivas, que são freqüentes em pacientes tratados precocemente. O presente trabalho relata um caso de paciente do gênero feminino, apresentando a doença na maxila direita, a qual foi submetida a duas cirurgias; a primeira aos 12 anos por desconforto estético, e a segunda, aos 20 anos, por motivo funcional. Os autores propõem estas duas situações como justificativa para o tratamento cirúrgico precoce visto que a recidiva é freqüente, principalmente em pacientes submetidos à cirurgia durante seu estágio de maturação óssea. O tratamento conservador para esses pacientes, sem envolvimento estético grave ou funcional, ainda é o preconizado. Quimioterapia e radioterapia não se apresentam eficazes no controle da lesão

[Monostotic fibrous dysplasia of the calcaneus: two case reports]. / Dysplasie fibreuse monostotique du calcaneus: à propos de 2 cas.

The authors report two unusual cases of aggressive monostotic fibrous dysplasia involving the calcaneus. This lesion occurs on the 2th decade of life. The main symptom is talalgia. On plain films, differential diagnosis includes aggressive cystic or pseudocystic lesions of the calcaneus. On MR imaging, the tumor matrix is more suggestive of the diagnosis. Treatment of this aggressive form of fibrous dysplasia consists of a surgical curettage completed by cryotherapy and graft because of a high level of recurrence.

Displasia fibrosa dos maxilares: revisäo da literatura e relato de dois casos / Fibrous dysplasia of the jaws: review of literature and report of two cases

Este trabalho tem como objetivo apresentar uma revisäo da literatura da displasia fibrosa nos maxilares, apresentando os seus principais aspectos clínicos, radiográficos, histopatológicos, assim como as diferentes possibilidades de tratamento e o prognóstico desta condiçäo. Adicionalmente säo relatados dois casos do Departamento de Patologia e Diagnóstico Oral da FO/UFRJ, que estäo sendo acompanhados pelos autores

Monostotic fibrous dysplasia of the lumbar spine.

Monostotic fibrous dysplasia is exceedingly rare. We report a case in a 61-year-old woman with a history of recurrent low back pain and sciatica since 35 years of age. While walking, she suddenly experienced pain in her right thigh. The pain spread gradually to the buttock and calf on the same side, becoming increasingly severe. The time pattern was mechanical, with exacerbation during straining. Paresthesia developed over the dorsal aspect of the right foot. Nonsteroidal antiinflammatory drugs were ineffective. Radiographs of the spine showed an expansile and heterogeneous lesion in the body of L2. Hyperactivity of L3 and L4 was seen on the bone scan. Computed tomography demonstrated heterogeneity of L2, L3, and L4, as well as hypertrophy of the neural arch of L3 and of the right posterior lamina and spinous process of L4. Alterations in L2, L3, and L4 were noted on the magnetic resonance imaging study, which showed no evidence of epidural involvement. Laboratory tests were normal. A surgical biopsy of L3 established the diagnosis of fibrous dysplasia. Since the seminal description of fibrous dysplasia in 1891, only 21 cases of monostotic spinal involvement have been published. The spinal lesions can remain clinically silent or cause spinal pain with or without neurological symptoms. Radiographic findings are variable (heterogeneity, osteolysis, expansion without cortical violation or soft tissue involvement). Calcium and phosphate levels are normal. The diagnosis depends on examination of a vertebral biopsy specimen.

Displasia fibrosa monostótica dos maxilares / Maxillary monostotic fibrous displasia

Os autores relatam um caso de displasia fibrosa monostótica da mandíbula, abordando os aspectos clínicos, radiográficos e o seu tratamento

[Unilateral tibia vara in young children caused by focal fibrocartilaginous dysplasia. Apropos of 4 new cases]. / Tibia vara unilatéral du petit enfant par dysplasie fibrocartilagineuse focale. 4 nouveaux cas.

The authors report 4 cases of tibia vara associated with focal fibrocartilaginous dysplasia observed in 3 boys and 1 girl between the ages of 11 and 17 months. Deformation was usually discovered when the child began to walk. It can worsen during the first years of life, thus explaining that two subjects were operated at 3 years and at 4 years and 8 months, with osteotomy for valgus rotation. The outcome was good. The other 2 recovered spontaneously. The authors discuss the diagnostic and pathophysiological problems in the light of the data in the literature and confirm that correction is usually spontaneous, which justifies refraining from treatment.

Fibro-osseous lesions of the jaws.

During the 15 years since the author's 1970 paper on fibro-osseous lesions of the jaws, the subject has continued to interest the clinician and pathologist. Several new entities have been delineated during this period, and new concepts and controversies regarding the diagnosis and management of these lesions have arisen. A classification of fibro-osseous jaw lesions that the author has found to be workable is presented, and criteria for their diagnosis and management based on the authors' experience is discussed.