title: Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report.
abstract: 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.
authors.affiliation: ENT Division, Department of Pediatric Surgery, Zagreb University Children's Hospital, Klaićeva 16, Zagreb, Croatia. irena.gulam@kdb.hr
authors.forename: Irena
authors.initials: I
authors.lastname: Babić
authors.forename: Maja
authors.initials: M
authors.lastname: Karaman-Ilić
authors.forename: Nives
authors.initials: N
authors.lastname: Pustisek
authors.forename: Slobodna
authors.initials: S
authors.lastname: Susić
authors.forename: Ivancica
authors.initials: I
authors.lastname: Skarić
authors.forename: Antun
authors.initials: A
authors.lastname: Kljenak
authors.forename: Drasko
authors.initials: D
authors.lastname: Cikojević
mesh_terms: D001980:Bronchi / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D002648:Child; D003680:Deglutition Disorders / Q000453:epidemiology / Q000378:metabolism; D004820:Epidermolysis Bullosa / Q000150:complications / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007829:Laryngostenosis / Q000150:complications* / Q000601:surgery; D008297:Male; D009055:Mouth / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D009092:Mucous Membrane / Q000378:metabolism / Q000473:pathology; D009960:Oropharynx / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D051190:Plectin / Q000172:deficiency*; D013064:Speech Disorders / Q000453:epidemiology; D014132:Trachea / Q000378:metabolism / Q000473:pathology* / Q000601:surgery; D014139:Tracheostomy
chemical_list: D051190:Plectin