Acquired Choanal and Subglottic Stenosis Associated with MYHRE‐LAPS Syndrome: A Case Report and Literature Review. (2nd September 2014)

• Record Type: Journal Article
• Authors: Oldenburg, Michael; Frisch, Christopher D.; Kirmani, Salmann; Kasperbauer, Jan L.; O'Brien, Erin K.
• Is Part Of: Otolaryngology--head and neck surgery. Volume 151(2014)Supplement 1
• Page Start: P185
• Page End: P185
• Publication Date: 2014-09-02
• Subjects: Head -- Surgery -- Periodicals; Neck -- Surgery -- Periodicals; Otolaryngology -- Periodicals; 617.51
• DOI: 10.1177/0194599814541629a149
• Languages: English
• ISSNs: 0194-5998

Abstract

Abstract : Objectives: MYHRE‐LAPS syndrome (MLS) is a recently recognized disease caused by a mutation in the SMAD4 gene that alters the transforming growth factor (TGF)–beta pathway. This results in a wide range of pathology including laryngotracheal stenosis, arthropathy, prognathism and short stature, or LAPS syndrome. We present a unique case of MLS associated with both acquired choanal stenosis (CS) as well as subglottic stenosis (SGS) and perform a systematic review of all MLS associated airway pathology. Methods: Single case reviewed via the medical record. Literature review. Results: MLS was reported in 32 patients, and 5 had clinical airway symptoms. We added the case of a 43F who presented with 9 months of progressive nasal obstruction and was found to have bilateral CS and SGS on endoscopic examination. The patient had no recent airway instrumentation but had two prior operations requiring intubation. Genetic testing revealed SMAD4 mutation consistent with MLS and Losartan was initiated to inhibit TGF‐beta signaling. Most patients with MLS develop airway symptoms as a late sequela of disease with a median onset of 22 years old. Attempts to surgically address airway stenosis invariably results in recurrence secondary to robust scar formation. All patients who have undergone surgical management of airway stenosis were tracheostomy dependent (4/4). Conclusions: MLS is a newly recognized disorder characterized by progressive systemic fibrosis. Airway management is complicated by prognathism, trismus, and limited neck extension as well as invariable restenosis of the airway after instrumentation. Caution should be exercised when surgical intervention is entertained in these patients.