Subject(s)
Ear Diseases/diagnosis , Otoscopes , Otoscopy , Humans , Otoscopy/methods , Tympanic Membrane/anatomy & histologyABSTRACT
Auricular pseudocyst is a benign idiopathic disease, which typically presents as painless spontaneous swelling over the anterior part of the auricle. It has usually been diagnosed in young healthy male patients. Its aetiology remains unknown, but hypothetically congenital dysplasia or chronic low-grade trauma could be the main causes. We present two case reports and a discussion of the auricle pseudocysts, their origin and treatment options.
Subject(s)
Cysts , Ear Auricle , Ear Diseases , Adult , Cysts/surgery , Drainage , Ear Auricle/surgery , Ear Diseases/surgery , Humans , MaleABSTRACT
The branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by hearing loss, branchial and renal anomalies. BOR is genetically heterogeneous and caused by mutations in EYA1 (8q13.3), SIX1 (14q23.1), SIX5 (19q13.3) and in an unidentified gene on 1q31. We examined six Danish families with BOR syndrome by assessing linkage to BOR loci, by performing EYA1 multiplex ligation-dependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5. We identified four EYA1 mutations (c.920delG, IVS10-1G>A, IVS12+4A>G and p.Y591X) and one SIX1 mutation (p.W122R), providing a molecular diagnosis in five out of the six families (83%). The present, yet preliminary, observation that renal and temporal bone malformations are less frequent in SIX1-related disease suggests a slightly different clinical profile compared to EYA1-related disease. Unidentified mutations impairing mRNA expression or further genetic heterogeneity may explain the lack of mutation finding in one family despite LOD score indications of EYA1 involvement.
Subject(s)
Branchio-Oto-Renal Syndrome/genetics , Genetic Linkage , Homeodomain Proteins/genetics , Intracellular Signaling Peptides and Proteins/genetics , Nuclear Proteins/genetics , Nucleic Acid Amplification Techniques , Point Mutation , Protein Tyrosine Phosphatases/genetics , Sequence Analysis, DNA , Amino Acid Sequence , Animals , Branchio-Oto-Renal Syndrome/pathology , Female , Humans , Kidney/abnormalities , Male , Mice , Molecular Sequence Data , Pedigree , Temporal Bone/abnormalitiesABSTRACT
Aggressive sarcoidosis is seldom described with the middle ear as the only localisation. A case is described, and differential diagnoses, such as tuberculosis, histocytosis X, Wegener's granulomatosis, paraffinoma, sarcoidosis and necrotising sarcoid granulomatosis are discussed.
Subject(s)
Ear Diseases/pathology , Ear, Middle/pathology , Sarcoidosis/pathology , Child , Diagnosis, Differential , Humans , Male , NecrosisSubject(s)
Hearing Loss/diagnosis , Malingering , Denmark , Disability Evaluation , Female , Humans , Legislation, Medical , Malingering/psychology , Middle Aged , Physician's RoleABSTRACT
Three cases of auricular perichondritis caused by infection with Pseudomonas aeruginosa are described to draw attention to the high incidence of piercing-related infections and the risk of structural deformities to the outer ear. Various therapies and outcomes are described and current Danish legislation is highlighted.
