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Tracheobronchial anomalies in a patient with Schimke immuno‐osseous dysplasia (SIOD)
Author(s) -
Mobeireek Abdullah,
Saleemi Sarfraz,
Khalid Mohammad,
Imtiaz Faiqa,
Almutairy Eid A.
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36858
Subject(s) - medicine , dysplasia , bronchiectasis , tracheomalacia , dermatology , pathology , surgery , airway , lung
Schimke Immuno‐osseous Dysplasia (SIOD) is a rare genetic disorder with multiple systemic manifestations. Pulmonary manifestations have been described but not well characterized. They are believed to be secondary to decreased elasticity, and include emphysema, pulmonary hypertension and bronchiectasis. We describe a 24‐year‐old female patient with SIOD with tracheobronchial anomalies not reported before, including tracheomalacia and a tracheal bronchus with Epstein‐Barr virus (EBV) related leiomyoma causing endobronchial obstruction. Such anomalies, in addition to the difficult upper airway associated with SIOD present specific challenges during management. This case reports documents tracheobronchial abnormalities that have not been described before in SIOD. © 2014 Wiley Periodicals, Inc.