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

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.

A Novel Homozygous 9385 bp Deletion in the () Gene in a Malaysian Family with and a Review of Large Deletions.

Kindler Epidermolysis bullosa (KEB; OMIM 173650) is a rare autosomal recessive genodermatosis characterized by bullous poikiloderma and photosensitivity. Additional presentations include blistering, poor wound healing, skin atrophy, and increased risk of skin cancer. Most cases of KEB result from aberrations in the (Fermitin family member 1) gene encoding kindlin-1 and include nonsense, frameshift, splicing, and missense variants.

Dentoxol Mouthwash for People With Epidermolysis Bullosa: A Qualitative Study of Self-Perceived Symptoms and Quality of Life.

Aims: Epidermolysis Bullosa (EB) is a group of rare genetic disorders characterized by fragility and blistering of the skin and mucous membranes. Although there are some studies comparing treatments for oral symptoms, there are few qualitative studies describing the perceived oral impact and the impact on the quality of life (QoL) for those individuals affected. This study explores the self-perceived oral symptoms when using Dentoxol mouthwash to treat oral lesions in a two- and five-times-a-day protocol for individuals living with EB and how this treatment impacts their oral health-related QoL.

Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa.

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.

Mini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.

Background: Junctional epidermolysis bullosa (JEB) is one of the four major types of EB caused by genetic variants in the genes coding the proteins of the lamina lucida. All patients with this major type of EB present syndromic hypoplastic amelogenesis imperfecta (AI), with either a pits and fissures or generalized hypoplastic phenotype. Severe forms of AI are associated with compromised oral health-related quality of life (QoL) mostly due to poor dental aesthetics, dentofacial anomalies, and oral pain.

Early teeth extraction in patients with generalized recessive dystrophic epidermolysis bullosa: A case series.

Objectives: To present early teeth extractions as a treatment option in severe dental crowding in patients with generalized recessive dystrophic epidermolysis bullosa (RDEB).

Materials And Methods: Three patients with generalized RDEB were treated with early teeth extractions to prevent severe dental crowding.

Results: Two patients had bilateral upper first premolars extraction, and the third patient had permanent maxillary canine extraction.