Craniofacial Bone Involvement Research Articles

The 'Eye Mask Sign' in Fibrous Dysplasia on 99mTc-MDP Skeletal Scintigraphy and SPECT/CT.

Fibrous dysplasia (FD) is a fibro-osseous disorder that manifests with distinct or overlapping clinical patterns. FD may be monostotic or polyostotic and commonly associated with syndromes such as McCune-Albright syndrome and Mazabraud syndrome. We report a case of polyostotic FD with bilateral involvement of craniofacial bones in a distinct pattern and propose this characteristic appearance as the 'eye mask sign' on 99mTc-Methylene Diphosphonate (MDP) skeletal scintigraphy and SPECT/CT. Other unusual skeletal scintigraphic features noted in this case are also described (Figs. 1, 2, and 3).

Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children.

To analyze the genetic and clinical features of children with MAP2K1-mutated Langerhans cell histiocytosis (LCH). We compared the clinical features of 37 children with MAP2K1-mutated LCH with those of the BRAFV600E mutation group (n = 133) and no known mutation group (n = 59) in the same period. We found 13 mutations of the MAP2K1 gene, which were mainly concentrated at p.53-62 and p.98-103. The most common mutation site was c.172_186del (12/37). Compared with the BRAFV600E mutation group, the patients with MAP2K1 mutations were mainly characterized by single-system multiple bone involvement (P = 0.022), with later disease onset (P = 0.029) as well as less involvement of risk organs, especially liver (P = 0.024). There was no significant difference in clinical features compared with the no known mutation group. The 2-year progression-free survival rate of first-line treatment (ChiCTR1900025783, 07/09/2019) in MAP2K1-mutated patients was 65.6% ± 9.5%. The prognosis of patients with lung involvement was poor [HR (95% CI) = 6.312 (1.769-22.526), P = 0.005]. More progression or relapses could be found in patients with bony thorax involvement (8/17 vs. 2/20, P = 0.023), yet involvements in other sites of bones, such as craniofacial bone involvement (8/26 vs. 2/11, P = 0.688) and limb bone involvement (5/12 vs. 5/25, P = 0.240), were not correlated to disease progression or relapse. The children with MAP2K1-mutated LCH have specific clinical features requiring clinical stratification and precise treatment. MAP2K1-mutated patients with lung involvement (especially with bony thorax involvement) had poor prognosis.

Clinical analysis of pediatric Langerhans cell histiocytosis with craniofacial bone involvement

Objective To investigate the clinical characteristics and outcomes of pediatric Langerhans cell histiocytosis (LCH) with craniofacial bone involvement. Methods A retrospective analysis was performed on 145 pediatric LCH patients with craniofacial bone involvement registered at Beijing Children′s Hospital Affiliated to Capital Medical University from January 2007 to July 2013.The patients were divided into 2 groups: central nervous system risk craniofacial bone involvement group(CNS-RISK) and non-central nervous system risk craniofacial bone involvement group(non-CNS-RISK). All patients were assessed at 5 weeks, 11 weeks, 25 weeks and 52 weeks respectively after chemotherapy started, and 3 months, 6 months, 1 year and 3 years after chemotherapy withdrawal.Statistics and related risk analysis was performed respectively. Results A total of 145 craniofacial bone involved LCH cases were included, which was composed of 62.5% of 232 LCH cases hospitalized during the same period.The median age of these patients was 29 months, and median follow-up time period was 31 months.The most commonly involved craniofacial bone was parietal bone(78 cases, 53.8%), followed by temporal bone(59 cases, 40.7%) and frontal bone(57 cases, 39.3%). The onset age was significantly different (26 months vs.54 months, Z=-2.777, P<0.05) between CNS-RISK group (103 cases) and non-CNS-RISK group (42 cases). Moreover, compared with non-CNS-RISK group, CNS-RISK group showed higher ratio of patients classified as multisystem involvement of risk organs (72/103 cases, 69.9%)vs.(15/42 cases, 35.7%)(χ2=16.908, P<0.05), and a higher rate of overall relapse rate (45/103 cases, 43.7%) vs. (7/42 cases, 16.7%) (χ2=9.427, P<0.05), a lower survival rate of 3-year relapse-free survival rate [(66.9±5.7)% vs.(88.2±7.8)%, Z=2.205, P<0.05]. The incidence of diabetes insipidus was 13.7% in 232 LCH patients.Compared with patients without craniofacial bone involvement, patients with craniofacial bone involvement demonstrated a higher rate of diabetes insipidus [(27/145 cases, 18.6%) vs.(5/87 cases, 5.7%), χ2=7.579, P=0.006]. But the incidence of diabetes insipidus showed no statistical difference between CNS-RISK group and non-CNS-RISK group (21.3% and 11.9%, χ2=1.760, P=0.185). Diabetes insipidus was not found in single system LCH with Single-Bone CNS-RISK lesions.Till the end of follow-up, 1 out of 145 patients died.Among 145 patients, 5 cases had a single-bone CNS-RISK lesion.They received systemic chemotherapy.One showed reactivation, and none of them died.Multivariate analysis of variance showed that all the independent factors indicating diabetes insipidus included parietal bone, frontal bone, maxilla and mandible involvement(HR=2.697, 3.487, 5.425, all P<0.05), while independent factors indicating relapse included temporal bone, maxilla and mandible involvement(HR=3.712, 3.380, all P<0.05). Conclusions Among involved craniofacial bones, the parietal bone is most commonly involved.LCH occurs averagely at an earlier age in CNS-RISK group, along with lower 3-year relapse-free survival rate, high relapse rate, and more patients classified as multisystem LCH involvement of risk organs.The incidence of diabetes insipidus in children with craniofacial bone involvement with single system CNS-RISK is low.Patients with the parietal bone, frontal bone, maxilla and mandible involvement at diagnosis are at a increasing risk a significantly to develop DI during the course of disease. Key words: Langerhans cell histiocytosis; Child; Craniofacial bone; Clinical characteristics.

Disease Characteristics and Treatment of Adult Langerhans Cell Histiocytosis: A Single Center Experience

Introduction: Langerhans cell histiocytosis (LCH) is a clonal neoplastic disorder of CD1a/CD207 positive myeloid dendritic cells with broad clinical spectrum ranging from focal self-limited disease (single system LCH, SS-LCH) to aggressive multisystem disease (multi system LCH, MS-LCH) with increased mortality. Mutually exclusive somatic activating mutations in BRAF(V600E, ~50-65%) and MAP2K1(~25%) genes are reported in LCH patients resulting in overactive MAP kinase pathway. Clinically the disease may affect any organs, more frequently bones, skin, and pituitary gland. Involvement of hematopoietic system, spleen, liver or CNS is considered high risk with less favorable prognosis. Involvement of “special sites” such as craniofacial bones (orbit, mastoid, sphenoid or temporal bones) may pose immediate risk. Systemic therapy is indicated in MS-LCH, SS-LCH with multifocal lesions (e.g. multiple bone lesions) or SS-LCH with special site lesions. Treatment of LCH in adults is challenging due to lack of prospective data and treatment protocols developed in pediatric population is very poorly tolerated in adults. The aim of this study is to review the clinical and genetic characteristics of adult LCH cases presenting to our institute and review treatment paradigm and response.Methods:We retrospectively identified patients reported as “Langerhans cell histiocytosis” between January 2008 to March 2018 by Hematopathology at the ARUP laboratories, University of Utah. Our search identified 23 unique patients; of these 3 cases were excluded due to age <18 years and 3 were excluded due to lack of follow-up records. Seventeen unique adult LCH patients were identified. Data on clinical characteristics, sites of disease involvement, genetic mutations, treatment were obtained by retrospective chart review (Table 1). BRAFV600Emutation analysis was performed by allele specific PCR amplification since 2010 where tissue was available. Detection of the PCR product(s) is performed by capillary electrophoresis and data analysis is done using GeneMarker 2.4.0 software (SoftGenetics; State College, PA, USA).Results:The median age was 34 years (range 18-80) and 8 patients were men (47%). One patient was initially diagnosed at 3 years of age, recurred at 7 years and 18 years of age and was included. 12 patients had SS-LCH (71%) and 5 patients had MS-LCH (29%). Three (18%) patients were considered high risk at diagnosis (1 liver, and 2 CNS). Bone was the most common site involved in 11 cases (68.7%) followed by lung in 6 cases (37.5%). Of 10 patients tested, 7 (70%) patients were positive for BRAFV600Emutation (Table 1). Six (35.2%) patients had an indication for initiation systemic chemotherapy, one lost to follow-up after presenting with CNS-LCH. 1 patient treated with first line systemic therapy with cladribine 5 mg/m2days 1-5, monthly for 6 months due to CNS-LCH involving hypothalamus. Four received first line therapy with cytarabine 100 mg/m2days 1-5, monthly for 12 months due to multifocal bone lesions or involvement of craniofacial bones; of which two patient recurred (1 patient with recurrent bone lesions and 1 with spleen/liver involvement), cladribine 5 mg/m2days 1-5, monthly for 6 months.Conclusions: In our single center experience, incidence of adult LCH is extremely rare. Majority of LCH patients presented with SS-LCH. Approximately 30% of the patients required systemic chemotherapy, and recurrence occurred in two patients who required further systemic therapy.Most common indications for systemic therapy are multifocal bone disease or involvement of craniofacial bones or CNS LCH. [Display omitted] DisclosuresDeininger:Blueprint: Consultancy; Pfizer: Consultancy, Membership on an entity's Board of Directors or advisory committees.

Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort.

Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. We retrospectively reviewed a cohort of pediatric patients (n = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017. Half of the 16 patients with polyostotic FD presented with MAS. All patients with MAS (n = 8) had café-au-lait spots, and either gonadotropin-independent precocious puberty (PP) (girls; n = 5) or abnormal testicle structure (boys, n = 3). None manifested hyperthyroidism or growth hormone excess. Mild hypophosphatemia was common (11/16), but none had signs of hypophosphatemic rickets. Craniofacial bone involvement was found in 12 patients (75%); in 5 of these, skeletal lesions were limited to craniofacial area. One child with craniofacial disease had lost vision due to optic nerve damage. Eleven (69%) patients had sustained a fracture at FD lesion, over half of them requiring surgical fixation of the fracture, most commonly in the proximal femur. The first symptoms leading to FD/MAS diagnosis included skull/facial asymmetry (n = 4), PP (n = 3), abnormal gait (n = 3), pathologic fracture (n = 3), wide-spread café-au-lait spots (n = 1), headache (n = 1), and vision loss (n = 1). Polyostotic FD and MAS remain diagnostic and therapeutic challenges because of the broad clinical spectrum. Recurrent fractures, pain, and even vision loss may impair the quality of life in children with FD.

Asymptomatic facial disfigurement-case reports of monostotic and polyostotic fibrous dysplasia

Fibrous Dysplasia is a developmental dysplastic disorder of bone in which the normal bone matrix is replaced by fibroblastic proliferation. Von Rechlinghausen was the first author who described it in 1891 and Lichtenstein was the person who introduced the term fibrous dysplasia. It can be monostotic (70%) or polyostotic (30%). The craniofacial localization occurs in 10%-25% of cases in monostotic forms and in 50% of cases in polyostotic forms. Almost all patients with extensive polyostotic forms of the disease have skull involvement, while most patients with craniofacial bone involvement have the monostotic form of the disease. Fibrous dysplasia essentially affects children and young adults, with no sex preference. Diagnosis is not always straightforward because the functional symptomology is often absent or not specific. Only symptomatic and/or gross forms are considered for treatment.

Włókniak chrzęstno-śluzowaty przegrody nosa

Chondromyxoid fibroma (CMF) is a rare benign tumor, typically occurring in the metaphysis of long bones. Involvement of craniofacial bones is extremely unusual. The histologic diagnosis of this tumor is difficult because of its similarities to chondrosarcoma. Preferably, chondromyxoid fibroma is treated by complete local excision. Recurrences, or soft tissue implants, may follow incomplete curettage. Presentation of the case of 51-year-old woman who presented with a CFM of the nasal septum with extension into the maxillary and sphenoid sinuses. In addition, a literature review of the clinical and histologic features, as well as recommended modalities of treatment, are presented. Analysis of clinical records of patient treated of CMF in Department of Otolaryngology Warsaw Medical Univercity. Radiologic imaging showed a soft tissue lesion invading the adjacent bony structures. The initial microscopic examination of a segment of the tumor gives no diagnose. The tumor was excised. Postoperative microscopical examination of the tumor revealed the typical pathologic features of CMF. Patient was free of disease at 12-month follow-up. After it signs of recurrence appeared. Reoperation was performed. Although surgery is a base of treatment, radiotherapy should also be discussed. Surgical excision must be complete. Radiotherapy should to be reserved for the cases that are surgically difficult to reach. Because of the similarities between CMF and chondrosarcoma, great care must be taken in the assessment of the biopsy.

Fibrous Dysplasia of the Clivus: Case Report

Introduction: Fibrous dysplasia is a developmental skeletal disorder which may cause distortion, expansion, and weakening of the bone. Involvement of craniofacial bones with fibrous dysplasia is well known and may cause neurovascular impingement and cosmetic deformity. However, fibrous dysplasia of the clivus is rarely reported with only 14 cases in the literature. Because the management of fibrous dysplasia of the clivus differs from that of other pathological conditions that affect that anatomic area, the recognition and differential diagnosis of this disease are very important.

Monostotic Craniofacial Fibrous Dysplasia: The Turkish Experience

Fibrous dysplasia is a benign developmental disorder of the bone. Ten percent of patients with monostotic fibrous dysplasia have craniofacial bone involvement. Twenty-six patients were followed up at the Neurosurgery and Otolaryngology, Head and Neck Surgery Departments between 1990 and 2004. The surgery was performed in 14 patients with considerable cosmetic and functional disturbance. Twelve patients who had mild pain and mass at the site of the lesion were followed up. Cosmetic and functional results, symptom analysis, and frequency of site of involvement were reviewed and compared with previous series. Cranial involvement including frontal, parietal, sphenoidal, and occipital bones was found in 13 (52%) patients. The next common site was the maxillary bone in 9 (33%) patients. Four patients had orbital decompression caused by fronto-orbital and sphenoid bone involvement. None of the patients had any major complication of surgery. Because of its benign nature and decreased growth rate after adolescence, surgical treatment should be reserved for those with functional impairment or severe cosmetic disturbance.

Chondromyxoid Fibroma of the Nasal Septum: A Case Report Emphasizing Clinical Correlation

Chondromyxoid fibromas are uncommon tumors most often seen in long bones of adolescent and young males. Involvement of craniofacial bones is extremely unusual, with sporadic case reports described in the literature. We describe the first case of chondromyxoid fibroma arising in the nasal septum with local destruction and expansile growth into the ethmoid bone and inferior turbinate in a 60-year-old female. The fortuitous discovery of this otherwise asymptomatic lesion and its follow-up are detailed. The literature is reviewed and salient clinical, radiographic, and pathologic correlative findings are emphasized.