EXTRACUTANEOUS MANIFESTATIONS OF SHABBIR SYNDROME

Abstract

A 1.5 years old boy presented to medical emergency in critical condition with hoarseness since birth, recurrent chest infections and acute severe respiratory distress. On endolaryngeal examination, subglottic mucosal granulation tissue and subglottic stenosis, obstructing 70% of tracheal lumen was seen. The patient was also having scarring in skin at different stages of healing, conjunctival granulomatous lesions, nail and enamel dysplasia. With multidisciplinary approach, patient was diagnosed with Shabbir Syndrome for the first time. In this report, we have discussed the extracutaneous manifestations of Shabbir Syndrome and its management.