Bilateral Labyrinthine and Internal Auditory Canal Enhancement in an Infant With Severe Labyrinthine Dysplasia: A Previously Unreported Phenomenon.

OBJECTIVE: To describe a novel case of congenital profound bilateral sensorineural hearing loss in a patient with bilateral nodular internal auditory canal and labyrinthine enhancement and temporal bone dysplasia. PATIENTS: A 76-day-old female was referred to the authors' center for evaluation of congenital deafness. Behavioral observations and objective audiometric evaluation demonstrated bilateral profound sensorineural hearing loss and a comprehensive multidisciplinary evaluation identified compound heterozygous pathogenic variants in MYO7A, a gene associated with Usher Syndrome Type 1B or DFNB2. Computed tomography and contrast-enhanced magnetic resonance imaging studies demonstrated bilateral temporal bone anomalies with unique middle and inner ear malformations, as well as unique contrast enhancement in the membranous labyrinth, internal auditory canals, and cranial nerves, which have not been previously described with MYO7A variants. INTERVENTIONS: Given the potential risk for progressive bilateral labyrinthitis ossificans, bilateral simultaneous cochlear implantation was performed at 4 months of age. MAIN OUTCOME MEASURES: Subsequent audiologic follow up after implantation shows significantly improved access to auditory information and increased vocalizations. At last testing, speech and language skills for both receptive and expressive language abilities were found to be commensurate with her chronological age. CONCLUSION: We report a novel presentation and imaging findings of congenital bilateral profound sensorineural hearing loss in a patient with nodular internal auditory canal and labyrinthine enhancement and coexisting inner ear dysplasia. Despite the multiple radiologic abnormalities, the patient has demonstrated good benefit from cochlear implantation. Future study of rare variants of congenital deafness, such as this, is critical toward defining new disease processes and determining optimal treatment.

Arteriovenous Lesions of the Internal Auditory Canal.

OBJECTIVE: To describe a unique case of an asymptomatic arteriovenous lesion of the internal auditory canal (IAC) and present the associated imaging findings. METHODS: Retrospective case report and review of the literature. RESULTS: A 55-year-old man presented for further evaluation of a left-sided sudden sensorineural hearing loss that occurred 8 years earlier. Careful review of outside serial magnetic resonance (MR) imaging revealed a contralateral, ill-defined right-sided IAC mass with low T2 signal and subtle peripheral enhancement on postcontrast T1-weighted sequencing. The patient had no history of right-sided otologic symptoms.Subsequent dedicated IAC MR imaging confirmed the presence of a space-occupying lesion adjacent to a complexity of vasculature. The presence of prominent flow voids, paucity of avid enhancement on previous studies, and marked signal within the lesion on time-of-flight MR angiography and MR venography was consistent with the diagnosis of a solitary arteriovenous lesion of the IAC. There was no radiological evidence of recent or remote parenchymal or subarachnoid hemorrhage or stroke. CONCLUSION: We report a novel case of an occult asymptomatic IAC arteriovenous lesion. Vascular anomalies confined to the IAC are rare. To date, there have been only four reports in the literature of IAC arteriovenous lesions and our case is the first to present asymptomatically. A high index of suspicion and dedicated imaging is required to identify and accurately diagnose these lesions to guide appropriate counseling and potential intervention.

Mohs surgery in metastatic cancer: renal cell carcinoma solitary cutaneous metastasis and visceral tumor metastases to skin treated with microscopically controlled surgical excision.

BACKGROUND: Mohs micrographic surgery is the reference standard treatment for primary cutaneous malignancies. OBJECTIVES: The purpose of this case study is to demonstrate that Mohs surgery may be considered as a possible treatment for a solitary metastatic tumor under the appropriate circumstances. METHODS: We report a patient in whom a solitary cutaneous metastasis of renal cell carcinoma (RCC) was successfully treated with microscopically controlled surgical excision, and cite instances of the successful management of cutaneous metastases using the Mohs surgical technique in oncology patients reported in the literature. Patient reports and previous reviews of the subject were critically assessed. Salient features are presented. RESULTS: Metastases to the skin are rare in RCC. Albeit rarely, surgical excision, particularly Mohs micrographic surgery, has been used for the removal of isolated RCC cutaneous metastases. In the present patient with metastatic RCC, a solitary cutaneous metastasis on the occipital scalp was successfully treated with Mohs micrographic surgery. There was no recurrence of the lesion after two years of follow-up; however, the patient eventually succumbed to progressive disease. CONCLUSIONS: We suggest that, in the appropriate setting, surgical excision of isolated cutaneous metastases using microscopically controlled margins at the time of surgery should be added to the indications for Mohs surgery.

Acute febrile neutrophilic dermatosis (Sweet's syndrome).

PURPOSE OF REVIEW: To highlight the recent observations regarding not only research but also the clinical features and management of Sweet's syndrome. RECENT FINDINGS: Some of the new insights concerning Sweet's syndrome include: (1) bortezomib-induced Sweet's syndrome (some of which are the histiocytoid variant), (2) a rare extracutaneous manifestation of Sweet's syndrome with cardiovascular involvement including coronary artery occlusion, and (3) the possibility that photosensitivity may have a role in the pathogenesis of Sweet's syndrome. SUMMARY: Animal models of Sweet's syndrome and new associated medication have been observed. The definitive mechanism of pathogenesis still remains to be elucidated. Recent observations in paediatric patients suggest evaluation of dermatosis-related cardiac involvement in patients with post-Sweet's syndrome cutis laxa. Treatment advances include antitumour necrosis factor- alpha drugs; however, these medications have also been associated with inducing Sweet's syndrome. Nearly 50 years after the initial description of an acute febrile neutrophilic dermatosis by Dr Robert Douglas Sweet, the dermatosis remains a fascinating condition with regard to laboratory investigation, clinical manifestations and treatment.