ABSTRACT
Angioleiomyomas are smooth muscle masses originating from blood vessel tunica media. This is a rare tumor, comprising less than 1% of benign sinonasal cavity tumors. Failure to recognize and surgically excise nasal angioleiomyomas can result in lesion recurrence. We present 2 new cases of nasal septum angioleiomyoma at a single institution. Additionally, both cases underwent septal and nasal surgery. Due to the nonspecific clinical and imaging findings, a high index of suspicion is needed to diagnose nasal septum angioleiomyoma, often requiring histopathological verification. Preferred treatment is complete surgical excision. From our experience, concurrent corrective septal and sinus surgery can be completed with tumors less than 1.0 cm in size.
Subject(s)
Angiomyoma , Nasal Surgical Procedures , Humans , Angiomyoma/diagnostic imaging , Angiomyoma/surgery , Nasal Septum/surgery , Nasal Septum/pathologyABSTRACT
BACKGROUND: PR domain containing 16 (PRDM16) is a key transcriptional regulator in the development of craniofacial, adipose, and neural tissues. Our lab identified PRDM16 expression in the epithelial cells of the Kölliker's organ (KO) that starts at ~E13.5 and is maintained until KO disappearance. A transgenic mouse model that carries a gene trap null allele of Prdm16 (Prdm16cGT ) was used to characterize the impact of Prdm16 loss on cochlear development. RESULTS: At P0 Prdm16cGT null cochlea exhibited hypoplastic KO, shortened cochlear duct, increased density of hair cells (HCs) and supporting cells (SCs) in the apical turn as well as multiple isolated ectopic HCs within the KO domain. KO epithelial cells proliferation rate was reduced in the apical turn of the developing Prdm16cGT null cochlea vs controls. Bulk RNA sequencing of cochlear duct cells at E14.5 followed by quantitative real time PCR and mRNA Fluorescence in-situ hybridization (FISH) validation identified differentially expressed genes in Prdm16cGT null vs littermate control cochleae. Upregulated genes at E14.5 included Fgf20, as well as several Notch pathway genes (Lfng, Hes1, and Jag1). CONCLUSIONS: This study characterizes Prdm16 expression during cochlear development and establishes its requirement for KO development.
Subject(s)
Organogenesis , Transcription Factors , Animals , Cochlea/metabolism , DNA-Binding Proteins/genetics , Fibroblast Growth Factors/metabolism , Hair Cells, Auditory/metabolism , Mammals/genetics , Mammals/metabolism , Mice , Mice, Transgenic , RNA, Messenger/genetics , Transcription Factors/genetics , Transcription Factors/metabolismABSTRACT
Sjögren's syndrome is a chronic autoimmune disorder characterized by mononuclear infiltration of exocrine glands, most commonly the lacrimal and salivary glands. While up to 34% of patients report bilateral parotid swelling, bilateral parotid sialolithiasis remains an exceptionally rare symptom. Here we present a patient who presents to the otolaryngology clinic with presentation of bilateral punctate parotid gland sialolithiasis prior to diagnosis of Sjögren's syndrome. Due to a wide array of clinical presentations frequently affecting the head and neck, otolaryngologists are often the initial providers for patients suffering from Sjögren's syndrome.