Orthodontic Treatment in Patients With Epidermolysis Bullosa (EB)-Clinical Practice Guidelines (CPG)

Abstract

Background: Epidermolysis bullosa (EB) is a rare genetic condition characterized by skin and mucosal fragility. The clinical phenotype is highly variable. Severe types and subtypes, such as junctional EB (JEB), kindler EB (KEB), and recessive dystrophic EB (RDEB), are considered to present a high risk of oral health problems, including malocclusions. Despite this, the literature on orthodontic treatment in patients with EB is scarce and is limited to a few case reports.

Objective: To provide the users with information on the current best practices for orthodontic and dentofacial orthopedic diagnosis and treatment for patients with EB.

Methods: Current information regarding orthodontic treatment in patients with EB was identified based on a systematic literature review. A panel of experts was invited to provide additional information based on their experience through an open-ended form. Later, a Delphi study was performed over two rounds with a consensus threshold at 75%. Members of the medical team and patient representatives revised the final document.

Results: The panel (n = 12) agreed on a total of 15 recommendations, divided into three categories: general information on EB and orthodontics; orthodontic diagnosis and orthodontic treatment. A fourth category on perspectives was developed based on the feedback provided by non-dental members of the medical team (n = 4) and patients (n = 2).

Conclusions: Orthodontic treatment guidelines for patients living with EB are presented, including general aspects of EB, orthodontic diagnosis, and orthodontic treatment.

FIGURE 1

Characteristics of patients with EB subtypes with high risk of oral and dental manifestations and complications. (A) Generalized hypoplastic amelogenesis imperfecta in a patient with intermediate JEB. (B) Severe crowding and microstomia in a patient with severe RDEB. (C) Chronic intraoral granulation tissue lesion in a patient with severe JEB. (D) Perioral and intraoral granulation tissue in a patient with severe JEB. (E) Ankyloglossia and microstomia in a patient with severe RDEB. (F) Pseudosyndactyly in a patient with severe RDEB.

FIGURE 2

(A) A patient with RDEB, a wheelchair user, receives treatment in a wheelchair recliner. (B) An extraoral photograph of a patient with an eye ulcer covered by a dressing. (C) An extraoral photograph of a dressing covering chronic lesions on the neck and ear. (D and E) A custom‐designed acrylic lower tray was used for a patient with RDEB, but despite the efforts, a hemorrhagic lesion was produced on the right commissure.

FIGURE 3

Orthodontic treatment in a patient with intermediate RDEB. (A) Severe malocclusion with an anterior crossbite in #12 and #22, both with caries, associated with difficulties in performing oral hygiene due to malposition. (B) and (C) Evolution of orthodontic treatment after 5 and 10 months, respectively. Treatment planning considered only upper arch brackets, realistic objectives (Improving upper alignment for better aesthetic and easier oral hygiene), and orthodontic strategies (Difficulty in bonding posterior tubes and brackets, meaning limited anchorage and future difficulties in space closing. Hence, the team decided not to perform first premolar extractions). (D) One year after treatment, the alignment of the anterior teeth was successful, and the lateral incisors had been restored.

FIGURE 4

Stricture‐release surgery before taking impressions for the aligners. (A) Vestibuloplasty (B) Mucosal stricture‐release surgery to increase mouth opening.

FIGURE 5

(A) Male patient with intermediate RDEB at the age of 5 years presented anterior and posterior crossbite. (B) Maximal mouth opening 20 mm. (C) Early intervention was planned. Dental casts were obtained by using a custom‐made acrylic tray. A removable expansion appliance was conceived. The patient did not like using the appliance and never wore it. The treatment was suspended because of a lack of compliance. (D) The family made a request for a second treatment attempt at the age of 8. This time, a fixed appliance was planned, designed, and bonded. (E) The patient refused to eat with the appliance in the mouth. A week after bonding, the appliance had to be removed. Treatment was stopped for the second time.

FIGURE 6

(A) A removable dentofacial orthopedic appliance in a patient with localized DDEB. (B) Fixed metallic brackets in a patient with severe RDEB. (C) A patient with intermediate JEB with four mini‐implants placed on the palate for bonding a MARPE appliance (Mini‐implant assisted rapid palate expansion). On the occlusal surfaces a temporary retention device is used. (D) Aligners in a patient with intermediate RDEB.

FIGURE 7

Patient with moderate risk of oral manifestations (DDEB) during (A) Dentofacial orthopedic and (B) orthodontic treatment. The treatment followed the protocols used for non‐EB patients. The patient occasionally utilized orthodontic wax.