Background
The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the Ras/MAPK pathway. Cardio-facio-cutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair.
Objective
To systematically characterize the spectrum of dermatologic findings in mutation-positive individuals with cardio-facio-cutaneous (CFC) syndrome.
Methods
Dermatologic surveys were designed by the authors and distributed to the study participants through CFC International or directly by the authors (KAR and DHS) between July 2006 and August 2009. A second follow up survey was collected between December 2007 and August 2009. When available, digital images and medical records of the participants were obtained. Study participants included individuals with CFC who have a mutation in BRAF, MEK1, MEK2 or KRAS.
Results
Individuals with CFC have a variety of dermatologic manifestations caused by dysregulation of the mitogen-activated protein kinase pathway in development. Numerous acquired melanocytic nevi were one of the most striking features; greater than 50 nevi were reported by 23 % (14/61) of participants and of those, greater than 100 nevi were reported by 36% (5/14). Keratosis pilaris was reported in 80% (49/61) of cases. Ulerythema ophryogenes was common occurring in 55/61 (90%). Infantile hemangiomas occurred at a greater frequency, 26% (16/61), as compared to the general population.
Conclusions
CFC syndrome has a complex dermatologic phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café au lait macules and papillomata were not identified in this CFC cohort helping to distinguish CFC from other RASopathies, such as neurofibromatosis type 1 and Costello syndrome.
Background: We have recently controlled intraoperative condylar seating, with adjustable holes such plates as a sliding plate or MOJ plate. However, even when using such plates, postoperative passive condylar seating cannot be done. Objectives: The purpose of the present study was to evaluate the safety and efficacy associated with mandibular advancement by intraoral vertical ramus osteotomy (IVRO) with endoscopicallyassisted intraoral rigid or semi-rigid internal fixation. Methods: The study sample included all patients who had undergone a mandibular advancement by IVRO procedure with endoscopically-assisted intraoral plate fixation from September 2008 to May 2012. A mandibular advancement by IVRO with endoscopically assisted intraoral rigid or semi-rigid internal fixation was used for mandibular advancement. The patients were analysed prospectively, with more than two years of follow-up, and were evaluated in terms of functional results, postoperative complications, and skeletal stability. Findings: A total of 14 patients (bilateral, seven patients with class II; unilateral, seven patients with asymmetry) were included in the present study. The average degree of mandibular advancement was 5.5 ± 1.9 mm (range, 3-9 mm). Both the occlusal relationship and facial appearance in all patients were significantly improved by the surgical-orthodontic treatment, with no major harmful clinical symptoms. In addition, one-screw semi-rigid fixation could control postoperative passive condylar seating. Conclusion: This study showed that mandibular advancement by IVRO with endoscopically assisted, intraoral semi-rigid internal fixation offers a promising treatment alternative for patients with skeletal class II malocclusion or facial asymmetry.
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