ISOLATED CARTILAGINOUS PERFORATION IN EHLERS-DANLOS SYNDROME: A FEATURE OF THE DISEASE?

Abstract

TYPE: Case Report TOPIC: Allergy and Airway INTRODUCTION: Ehlers Danlos syndrome (EDS) is a genetic connecting tissue disorder affecting collagen formation and function. It can affect every organ system in the body. Clinically it manifests with skin hyper-elasticity, joint hypermobility and atrophic scarring [1,2]. EDS is associated with distinctive facial features, including epicanthal folds, palpebral ptosis, sunken eyes, hypo/hypertelorism, infraorbital creases, hypoplastic auricular lobe, retrognathia and anteverted nostrils [5]. Although EDS is known to be associated with septal deviation [6], there is little further description in the literature with regards to this. CASE PRESENTATION: A 55 year old female patient with known EDS presented to rhinology clinic with symptoms of left sided nasal obstruction. On clinical examination, she had a deviated septum to the left and nasal polyps. There was no history of trauma and she had tried Sterimar and steroid nasal sprays with no symptomatic benefit. During the septoplasty procedure, it was found that the patient had an isolated cartilaginous septal perforation, with an intact covering of mucoperichondrium on either side of the septum (Figure 1). DISCUSSION: EDS is mostly associated with mutations that affect type I, type III and type V collagen [3] , so why EDS is associated with septal deviation is unclear. CONCLUSIONS: To the best of the authors’ knowledge, there are no reports in the literature with regards to septal perforation in EDS patients, which makes the case more interesting as to whether the septal perforation in this case is an incidental finding or part of EDS that is yet poorly understood. DISCLOSURE: Nothing to declare. KEYWORD: ehlers-danlos