Ivančica Škarić

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: A case report

We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.

Variation of vascular ring as a cause of extubation failure

We report on an unexpected extubation failure in a two year old boy. In our patient, failure of extubation led to a diagnostic examination. The result of our examination was discovery of a congenital anomaly of the aortic arch and great vessels (vascular ring) with compression of the trachea. The presence of this anomaly in this patient was unknown to us before. A successful surgical procedure eliminated the underlying cause of the persistent extubation failures. IVANČICA ŠKARIĆ ( )•