Malignant Sarcomatous Degeneration of Craniofacial Fibrous Dysplasia.

BACKGROUND: Fibrous dysplasia (FD) is an uncommon bone disease characterized by the replacement of normal bone architecture with abnormal fibro-osseous connective tissue. Here, we discuss 2 cases of craniofacial FD, with malignant sarcomatous degeneration - a rare and morbid complication of the disease. CASE HISTORY: Two cases of craniofacial FD with malignant degeneration are presented. In the first, a 68-year-old male with a history of FD presented with acutely worsening left-sided facial pain and V2 and V3 hypoesthesia. Imaging findings suggested a large infratemporal fossa mass with biopsy demonstrating sarcomatous degeneration. Radical craniofacial resection achieved a gross total resection with likely microscopic disease. The patient was unable to tolerate adjuvant chemotherapy or radiation and succumbed to his disease 13 months following surgery.In the second case, a 36-year-old male with McCune-Albright Syndrome and craniofacial FD presented with acutely worsening left-sided headaches and midface hypoesthesia. Imaging revealed a heterogenous and expansile lesion with erosive changes in the left nasal cavity and infratemporal fossa. Pathology was suggestive of low grade sarcomatous degeneration. Given the extensive involvement of the skull base, the tumor was deemed unresectable, and the patient soon died following initiation of chemotherapy. CLINICAL RELEVANCE: Malignant sarcomatous transformation is a rare and challenging complication of craniofacial FD. Indolent onset, advanced spread at time of presentation, and close relationship with vital neurovascular structures are all hurdles for the treating clinician. The entity poses a diagnostic dilemma, as pathological analysis can be equivocal and may mimic nonmalignant processes, such as locally aggressive FD.

A Rare Presentation of Primary Cutaneous Low-Grade Neuroendocrine Tumor of the External Auditory Canal.

OBJECTIVE: To describe the first case of a primary cutaneous low-grade neuroendocrine tumor (cLGNET) originating from the external auditory canal as well as our team's surgical management. PATIENT: A healthy 34-year-old female presented with a low-grade neuroendocrine tumor of her right external auditory canal (EAC) which extended from the posterior-superior aspect of the EAC into the middle ear. INTERVENTION: A complete otological examination was performed in addition to CT and MRI imaging. The low-grade neuroendocrine tumor was surgically biopsied and further surgery was recommended for complete resection. RESULTS: Audiogram revealed profound right sensorineural hearing loss. CT scan demonstrated complete opacification of the right EAC, middle ear, and mastoid air cells, dystrophic calcification in the mesotympanum overlying the cochlear promontory, and no associated osseous erosion. MRI revealed abnormal FLAIR hyperintensity and enhancement of the labyrinthine segment of the right facial nerve, cochlea, and horizontal and posterior semicircular canals. An enhancing mass opacifying the right EAC demonstrating restricted diffusion on diffusion-weighted image was also evident. Pathologic examination and immunohistochemical staining confirmed a diagnosis of primary cLGNET of the EAC. CONCLUSION: Primary cLGNETs of the external ear are exceedingly rare but should be considered if an adult patient presents with a mass in the EAC. Management should include early biopsy and surgical excision followed by histological and immunohistochemical confirmation.

Radiologic anatomy of the round window relevant to cochlear implantation and inner ear drug delivery.

OBJECTIVE: To determine anatomic relationships and variation of the round window membrane to bony surgical landmarks on computed tomography. STUDY DESIGN: Retrospective imaging review. METHODS: 100 temporal bone images were evaluated. Direct measurements were obtained for membrane position. Vector distances and angulation from umbo and bony annulus were calculated from image viewer software coordinates. RESULTS: The angle of round window membrane at junction with cochlear basal turn was (42.1 ± 8.6)°. The membrane's position relative to plane of the facial nerve through facial recess was (14.7 ± 5.2)° posterior from a reference line drawn through facial recess to carotid canal. Regarding transtympanic drug delivery, the round window membrane was directed 4.1 mm superiorly from the inferior annulus and 5.4 mm anteriorly from the posterior annulus. The round window membrane on average was angled superiorly from the inferior annulus (77.1 ± 27.9)° and slightly anteriorly from the posterior annulus (19.1 ± 11.1°). The mean distance of round window membrane from umbo was 4 mm and posteriorly rotated 30° clockwise from a perpendicular drawn from umbo to inferior annulus towards posterior annulus. Together, these measurements approximate the round window membrane in the tympanic membrane's posteroinferior quadrant. CONCLUSIONS: These radiologic measurements demonstrate normal variations seen in round window anatomy relative to facial recess approach and bony tympanic annulus, providing a baseline to assess round window insertion for cochlear implantation and outlines anatomic factors affecting transtympanic drug delivery.

Association of Facial Paralysis With Perceptions of Personality and Physical Traits.

Importance: Facial paralysis has a significant effect on affect display, with the most notable deficit being patients' the inability to smile in the same way as those without paralysis. These impairments may result in undesirable judgements of personal qualities, thus leading to a significant social penalty in those who have the condition. Objective: To quantify the association of facial paralysis with the way smiling patients are perceived by others with respect to personality traits, attractiveness, and femininity or masculinity and to evaluate the potential association of facial palsy-related patient-reported outcome measures with how patients are perceived by others. Design, Setting, and Participants: This retrospective cross-sectional study used 20 images of smiling patients with facial paralysis evaluated between January 1, 2014, and December 31, 2016. Using photograph editing software, the photographs were edited to create a simulated nonparalysis smiling facial appearance. A total of 40 photographs were split into 4 groups of 10 photographs, each with 5 altered and 5 unaltered photographs. The surveys were designed such that altered and unaltered photographs of the same patient were not placed in the same survey to avoid recall bias. Anonymous raters used a 7-point Likert scale to rate their perception of each patient's personality traits (ie, aggressiveness, likeability, and trustworthiness), attractiveness, and femininity or masculinity based on photographs in their assigned survey. Raters were blinded to study intent. Scores from the Facial Clinimetric Evaluation questionnaire were included to assess self-perception. Data were analyzed from November 11, 2019, to February 20, 2020. Main Outcomes and Measures: Ratings of personality traits, attractiveness, and femininity or masculinity. Social function domain scores and overall scores were analyzed from the Facial Clinimetric Evaluation questionnaire. Results: This study included photographs of 20 patients with facial paralysis (mean [range] age, 54 [28-69] years; 15 [75%] women). A total of 122 respondents completed the survey (71 [61%] women). Most respondents were between the ages of 25 and 34 years (79 participants [65%]). Overall, smiling photos of patients with facial paralysis were perceived as significantly less likeable (difference, -0.29; 95% CI, -0.43 to -0.14), trustworthy (difference, -0.25; 95% CI, -0.39 to -0.11), attractive (difference, -0.47; 95% CI, -0.62 to -0.32), and feminine or masculine (difference, -0.21; 95% CI, -0.38 to -0.03) compared with their simulated preparalysis photographs. When analyzed by sex, smiling women with facial paralysis experienced lower ratings for likeability (difference, -0.34; 95% CI, -0.53 to -0.16), trustworthiness (difference, -0.24; 95% CI, -0.43 to -0.06), attractiveness (difference, -0.74; 95% CI, -0.94 to -0.55), and femininity (difference, -0.35; 95% CI, -0.58 to -0.13). However, smiling men with facial paralysis only received significantly lower ratings for likeability (difference, -0.24; 95% CI, -0.47 to -0.01) and trustworthiness (difference, -0.30; 95% CI, -0.53 to -0.07). As patients' self-reported social function and total Facial Clinimetric Evaluation scores increased, there was an increase in perceived trustworthiness (rs[480] = 0.11; P = .02) and attractiveness (rs[478] = 0.10; P = .04) scores by raters. Conclusions and Relevance: In this study, photographs of patients with facial paralysis received lower ratings for several personality and physical traits compared with digitally edited images with no facial paralysis. These findings suggest a social penalty associated with facial paralysis.