421 - Dental Rehabilitation in a 3-Year-Old With Junctional Epidermolysis Bullosa

Abstract:

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disorder, characterized by blistering of skin and mucous membranes, even with mild trauma or friction. Oral complications of JEB pose serious concerns for patient health and require prompt management.
 

Case Report: We describe a case of a 3-year-old girl with a confirmed diagnosis of JEB due to a homozygous nonsense mutation in the COL17A1 gene. Born to consanguineous parents, the patient presented with oral pain and hypersensitivity, particularly to cold foods and drinks, leading to refusal to eat. Clinical findings included fragile, bleeding gingiva, enamel hypoplasia, dental caries, and intraoral bullae. Due to the extent of dental disease and the patient’s intolerance to in-chair procedures, a comprehensive dental rehabilitation was carried out under general anesthesia.
Special precautions were taken preoperatively to prevent mucosal trauma, including the use of non-adherent dressings, non-adhesive monitoring techniques, and gentle oral intubation with a fiberoptic bronchoscope. Dental treatment included full-coverage stainless steel crowns on primary molars and composite restorations on anterior teeth.
Postoperative care involved specific mouthwash, topical fusidic acid, dietary modifications, and fluoride varnish every 3 months.

At a six-month follow-up, the patient demonstrated significant clinical improvement with better oral hygiene, reduced gingival inflammation, improved nutritional intake, and weight gain.

 

Conclusion:
This case highlights the complexity of dental management in children with JEB and highlights the need for a multidisciplinary approach. Furthermore, management requires extreme care while handling JEB patients due to risk of blistering.

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