Intramuscular capillary-type haemangiomas (ICTH) are rare vascular anomalies that can easily be misdiagnosed as other entities. A systematic review was performed of all cases of ICTH in the ...literature since its first description in 1972. An adjudication committee reviewed cases to include only ICTHs. Among 1,143 reports screened, 43 were included, involving 75 patients. The most frequent differential diagnosis was intramuscular venous malformations. The mean age of patients at diagnosis was 21.2 years. ICTH was mainly described as a gradually increasing mass (81.8%), painless (73.9%), that could occur anywhere in the body but most frequently on the head and neck (44.0%). Magnetic resonance imaging (MRI) was mainly used for diagnosis (69.1%) and displayed specific features. The most frequent treatment was complete surgical removal (73.9%), which could be preceded by embolization, and led to complete remission without recurrence in all but 1 case.
Melanotic neuroectodermal tumor of infancy (MNTI) of the head and neck is a rare entity with uncertain clinical behavior. Radical surgical resection is the current recommended treatment, however this ...can cause severe aesthetic and functional sequelae. The aim of this study was to clinically characterize MNTIs and to stratify risk factors that may influence locoregional recurrence.
A retrospective multicenter study, including 11 patients from eight centers with a confirmed diagnosis of MNTI, was conducted. Epidemiological, clinical, radiological, pathological, and immunohistochemical examinations were reviewed. A statistical analysis using a t-test was conducted to calculate parameters correlating with tumor recurrence.
MNTIs mainly occurred in the maxilla, with a mean age at diagnosis of 3.18 months (range: 0–6 months). Primary surgery was performed on 10 patients, with a clear margin resection on two patients. Overall recurrence rate was 27% with a survival of 100% at time of follow-up. No statistical correlation between recurrence rate, age at diagnosis, localization, resection margins, and pathological and immunohistochemical characteristics could be established.
In our study, locoregional tumor recurrence did not seem to correlate with resection margins, so a conservative surgical approach may need to be considered to avoid functional and aesthetic sequelae.
Cystic lymphatic malformations (LMs) are rare chronic conditions which management differs according to the type (macrocystic LMs, microcystic LMs or both). Studies are lacking due to rarity of the ...pathology. We aimed to establish a French National Diagnosis and Care Protocol (PNDS: Protocole National de Diagnostic et de Soins), to provide health professionals with free open access synthesis on optimal management and care of patients with LMs ( https://www.has-sante.fr/upload/docs/application/pdf/2021-03/malformations_lymphatiques_kystiques_-_pnds.pdf ). The process included a critical review of the literature and multidisciplinary expert consensus. LMs are congenital but are not always discovered at birth. Nearly 75% of them are located in the head and neck because of the highly dense lymphatic system in this region. Physical examination (showing painless masses with normal skin color and depressible consistency, or cutaneous/mucosal lymphangiectasia) and color Doppler ultrasonography, usually allow for diagnosis. MRI (involving T2 sequences with fat saturation in at least two spatial planes) is the tool of choice for evaluating anatomical extension, characterizing lesions (microcystic and macrocystic), and before considering therapeutic management. A biopsy, coupled to a blood sample, can also be used for molecular biology analyses, to search for activating mutations of the PIK3CA gene, particularly with LM integrating in a syndromic form (CLOVES or Klippel-Trenaunay syndrome) but also in certain isolated (or common) LMs. The spontaneous evolution of LMs, in particular microcystic forms, is often toward progressive aggravation, with an increase in the number of vesicles, thickening, increased oozing and bleeding, while pure macrocystic LMs may regress due to "natural sclerosis", i.e. fibrosis secondary to an inflammatory reorganization after common infantile infections. In case of voluminous LMs or syndromic forms, functional and psychological repercussions can be major, deteriorating the patient's quality of life. LMs must be treated by physicians integrated in multidisciplinary teams, and be personalized. Management is a life-long process that involves one or several of these therapies: conservative management, physical therapy (compression), sclerotherapy, surgery, drugs such as mTOR inhibitors (sirolimus), that has shown efficacy in decreasing the volume of LMs, and, more recently, PI3K-inhibitors in syndromic forms. Psychological and social support is necessary, taking into account the patient and his family.
Cherubism is a rare autosomal dominant genetic condition caused by mutations in the SH3BP2 gene. This disease is characterized by osteolysis of the jaws, with the bone replaced by soft tissue rich in ...fibroblasts and multinuclear giant cells. SH3BP2 is a ubiquitous adaptor protein yet the consequences of SH3BP2 mutation have so far been described as impacting only face. Cherubism mouse models have been generated and unlike human patients, the knock-in mice exhibit systemic bone loss together with a systemic inflammation.
In light of these observations, we decided to search for a systemic cherubism phenotype in a 6-year-old girl with an aggressive cherubism. We report here the first case of cherubism with systemic manifestations. Bone densitometry showed low overall bone density (total body Z-score = - 4.6 SD). Several markers of bone remodelling (CTx, BALP, P1NP) as well as inflammation (TNFα and IL-1) were elevated. A causative second-site mutation in other genes known to influence bone density was ruled out by sequencing a panel of such genes.
If this systemic skeletal cherubism phenotype should be confirmed, it would simplify the treatment of severe cherubism patients and allay reservations about applying a systemic treatment such as those recently published (tacrolimus or imatinib) to a disease heretofore believed to be localised to the jaws.
The authors compared results of craniofacial reconstruction surgery using cutting guides with planned reconstruction on patients presenting craniosynostosis surgery sequelae.
This is a retrospective ...study performed on seven patients who had undergone craniofacial reconstructive surgery in University Hospital Center of Tours (France) in 2015. Patients had long-term sequelae of trigonocephaly and anterior plagiocephaly surgery. 3D computer model was constructed, based on CT scans and used for surgical planning. Cutting guides were realized to use patient autologous bone. Post-operative 3D cranioplasty was superimposed to the 3D pre-operative to determine the minimal distance between each point of the post-operative flap and its pre-operative point corresponding.
Mean of minimal distances calculated per patient ranged from 0.89 mm to 1.85 mm. The best result for percentage of points having the minimal distance inferior to 1.8 mm was 98.2 percent; the worst result was 55 percent. This value ranged from 77.5 to 98.2 percent for trigonocephaly cases. This value ranged from 55 to 77.5 percent for plagiocephaly cases. No significant difference was found between pre and post-operative areas and volumes of each flap, p = 0.12 and p = 0.19 respectively.
Using cutting guides facilitates complex craniofacia reconstructions with patient autologous bone and obtains precise and reproducible results.
Cherubism is a rare genetic disease characterized by bilateral giant cell reparative granuloma of the jaws consisting of a fibrotic stroma with giant multinucleated cells (GMCs) and osteoclastic ...features. Cherubism severity is highly variable, and recurrence after surgery is the most important risk. Currently there are no prognostic indicators. The aims of this study were to evaluate the osteoclastogenesis phenotype by histologic examination of NFATc1 localization and TRAP activity, and to correlate the results to disease aggressiveness in order to define prognostic indicators. Based on cherubism evolution one year after surgery, three classes of cherubism aggressiveness were identified: mild (group A), moderate (group B), and severe (group C). Histologically, in grade A and B cherubism lesions, GMCs were negative for both TRAP activity and NFATc1 nuclear localization. In contrast, in grade C cherubism lesions, GMCs were all positive for TRAP activity and NFATc1 nuclear localization, and displayed osteoclast-like features. Other histopathological findings were not different among the three groups. Our results establish that TRAP activity and NFTAc1 nuclear localization are associated with aggressive cherubism and therefore could be added to routine pathological examination to aid in prognosis and management of the disease. The finding of NFATc1 nuclear localization in aggressive tumors supports the addition of anti-calcineurin treatment to the therapeutic arsenal for cherubism.
Oral cavity is the most frequent anatomical subsite of upper aero-digestive tract malignancies. Squamous cell carcinoma is the most common histological type and totalizes more than 95% of oral ...cancer. Main risk factors are tobacco and alcohol exposure and also potentially malignant lesions. These precancerous lesions are a chronic disease of oral mucosa and are responsible for about 20% of oral cancer. The treatment of oral cancer depends on clinical, radiological and endoscopic staging and according to the multidisciplinary tumor board decision. Indeed, tumor staging gives information about loco-regional and metastatic spread. Treatment can include surgery, radiation therapy and chemotherapy. However, the prognostic mainly depends on tumor resectability and patient comorbidities. Tumor removal is often associated with reconstruction procedures in order to restore phonation, swallowing and breathing functions with acceptable aesthetic outcomes. The usual delayed diagnosis explains the poor prognostic of oral cancer in spite of prevention attempt and therapeutic improvement. Indeed, the profile of tobacco and alcoholic patients outside of medical system, the high rate of recurrence and the frequency of second primary malignancies explain the stable incidence for years.
Frontonasal dysplasia or median cleft syndrome is a rare condition often associated with transverse maxillary deficiency for which facial bipartition is the proper surgical treatment. This technical ...note describes the use and efficacy of 3-dimensional virtual surgical planning and patient-specific cutting guides in facial bipartition.
An 11-year-old boy presented with frontonasal dysplasia and a midline facial cleft.
Computed tomographic (CT) scan visualized an intercanthal distance of 40 mm and a maxillary width at the second molar level of 46.2 mm. The osteotomies, amount of bone removal, and movement of the osteotomized bone were planned virtually based on CT findings: the intended postoperative intercanthal distance and maxillary width were 25.5 and 49.6 mm, respectively. Customized cutting guides and titanium miniplates were manufactured. Postoperative CT scan showed an intercanthal distance of 25.5 mm and a maxillary width of 49.7 mm.
The intercanthal distances and maxillary widths were similar between the simulation and postoperative CT images, confirming the accuracy and utility of computer-assisted surgery in facial bipartition.
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