Laryngeal lesion associated with epidermolysis bullosa secondary to congenital plectin deficiency - 12/05/19
pages | 3 |
Iconographies | 2 |
Vidéos | 0 |
Autres | 0 |
Abstract |
Introduction |
Epidermolysis bullosa (EB) is a congenital disease characterized by fragility of epithelial structures. The skin is the organ primarily affected, resulting in the formation of skin blisters. Some forms of EB may also present mucosal lesions.
Case report |
We report the case of a girl with epidermolysis bullosa simplex (EBS) associated with muscular dystrophy secondary to congenital plectin deficiency. She presented severe respiratory tract lesions extending from the oral cavity to the larynx. In particular, we describe our medical and surgical management of the laryngeal lesions, responsible for several episodes of respiratory distress and feeding difficulties.
Discussion |
Epidermolysis bullosa simplex associated with muscular dystrophy is a rare hereditary form of EB, as fewer than 50 cases have been reported in the literature. This form is characterized by mucosal lesions involving the upper aerodigestive tract, with consequences for feeding, phonation and breathing. Special care must be taken when performing diagnostic and therapeutic procedures to avoid worsening the lesions of this very fragile mucosa. Tracheotomy is a harmful procedure in these patients and should only be considered as a last resort.
Le texte complet de cet article est disponible en PDF.Keywords : Epidermolysis bullosa, Congenital plectin deficiency, Larynx, Stenosis
Plan
Vol 136 - N° 3
P. 203-205 - juin 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’achat d’article à l’unité est indisponible à l’heure actuelle.
Déjà abonné à cette revue ?