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• W4387249611 abstract "SESSION TITLE: Lung Pathology Case Report Posters 2 SESSION TYPE: Case Report Posters PRESENTED ON: 10/09/2023 12:00 pm - 12:45 pm INTRODUCTION: Ehlers Danlos Syndrome (EDS) consists of a group of rare connective tissue disorders due to issues with collagen production. It usually results in symptoms such as hyperextensibility of the skin and joints or skin fragility. However, in certain subtypes of the syndrome, spontaneous pneumothorax can present in patients. This is most often seen in the vascular subtype of EDS with COL3A1 gene mutation. However, it can rarely be seen in the classical subtype as in our case. We describe the case of an 18-year-old female with sudden onset chest pain with a known history of recurrent pneumothoraces, found to have diffuse cystic lung disease. CASE PRESENTATION: An 18-year-old female presented to the emergency department (ED) from urgent care due to pleuritic chest pain aggravated by inspiration. She described the pain as sharp, intermittent, and rated it as 9/10 in intensity. She denied any recent trauma, smoking, contact sports, or previous lung disease; however, she does report skydiving four days prior to presentation. On physical exam, she had diminished breath sounds in the right posterior lung field. Otherwise the rest of the exam was insignificant. CXR at the urgent care showed a right sided pneumothorax. CT thorax in the ED showed a right lung pneumothorax and multiple pneumatoceles throughout bilateral upper and lower lobes. Patient underwent a robotic right thoracoscopic right upper lung wedge resection, mechanical pleurodesis, apical pleurectomy, and bronchoscopy with thoracic surgery. A chest tube was also placed, with subsequent improvement in the patient's shortness of breath. Initial concern for lymphangioleiomyomatosis (LAM) was ruled out with wedge resection pathology. The patient was seen for the same issue throughout the next 2 years, eventually having five recurrent pneumothoraces in the right lung and one in the left lung. Genetic workup was done at a university hospital and the patient was deemed to have a COL5A1 mutation, leading to diagnosis of classic Ehlers-Danlos syndrome. DISCUSSION: Classical Ehlers-Danlos syndrome is mainly characterized by major criteria of skin hyperextensibility, joint hypermobility, and atrophic scarring, and many minor criteria including skin fragility, pseudotumors and epicanthal folds. This case is unique in that recurrent pneumothoraces of this nature are usually seen in the vascular EDS subtype with COL3A1 mutations, and rarely seen in the classical subtype. Given the possible severe presentation of arterial rupture and dissection, it would be useful to screen patients with classical EDS and recurrent pneumothoraces for vascular complications. CONCLUSIONS: Spontaneous pneumothorax in a young healthy patient with no past medical history makes a variety of uncommon differential diagnosis which needs to be found. One of these diagnoses could be Ehlers Danlos syndrome, a group of connective tissue disorders stemming from mutations in the genes responsible for collagen production. REFERENCE #1: Germain DP, Herrera-Guzman Y. Vascular Ehlers-Danlos syndrome. Ann Genet. 2004 Jan-Mar;47(1):1-9. doi: 10.1016/j.anngen.2003.07.002. PMID: 15127738. REFERENCE #2: Assavarittirong C, Au TY, Nguyen PV, Mostowska A. Vascular Ehlers-Danlos Syndrome: Pathological Variants, Recent Discoveries, and Theoretical Approaches. Cardiol Rev. 2022 Nov-Dec 01;30(6):308-313. doi: 10.1097/CRD.0000000000000419. Epub 2021 Sep 15. PMID: 34560710. REFERENCE #3: Watanabe A, Shimada T. Vascular type of Ehlers-Danlos syndrome. J Nippon Med Sch. 2008 Oct;75(5):254-61. doi: 10.1272/jnms.75.254. PMID: 19023163. DISCLOSURES: No relevant relationships by Roshan Bagga No relevant relationships by janak` patel No relevant relationships by Mark Vinicky" @default.
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• W4387249611 date "2023-10-01" @default.
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• W4387249611 title "RECURRENT PNEUMOTHORACES IN A YOUNG PATIENT WITH CLASSICAL EHLERS-DANLOS SYNDROME" @default.
• W4387249611 doi "https://doi.org/10.1016/j.chest.2023.07.3158" @default.
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