Dental care management in a child with recessive dystrophic epidermolysis bullosa

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes in which vesiculobullous lesions occur in response to trauma, heat or no apparent cause. The recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, tongue denudation, microstomia, vestibule obliteration and predisposition to oral carcinoma. Routine dental care may cause bullae formation on the lips and oral mucosa. Together with the ingestion of soft and frequently carbohydrate food, these anomalies lead to a high caries risk. This paper documents a case of a child diagnosed with recessive dystrophic epidermolysis bullosa (RDEB); describes the phases and difficulties of dental treatment and the measures that dentists and health care providers should adopt in order to provide a safe and effective dental treatment as well as earlier prevention to these patients.

Extra- and Intraoral Clinical Findings of Recessive Dystrophic Epidermolysis Bullosa: A Case Report

“…Dystrophic EB has either an autosomal-dominant or recessive pattern of inheritance and is associated with the loss of fibrils of anchorage and increased collagen disintegration on the superficial dermis due to excessive synthesis of collagenase (1,2). In our case, the patient, whose parents had a consanguineous marriage, was diagnosed with a recessive pattern of dystrophic type EB immediately after birth.…”

Dental management of patients with microstomia. A review of the literature and update on the treatment.

“…During clinical examination a reduction in oral aperture and numerous blisters on the oral mucosa can be observed, tongue can also appear limited in mobility and attached to the floor of the mouth. All this conditions may arise during the healing of lesions, forming scars that limit the mobility of soft tissues at various levels [18][19][20][21] .…”

“…To treat patients with microstomia, the dentist will need small rotary instruments such as dental burs with small heads and short axis 21,42,44,45 . The use of magnifying loupes to work with more precision is often helpful.…”

Az epidermolysis bullosa szájüregi tünetei és annak ellátása

“…Prevalenciájára vonatkozóan nincs pontos adat, elő-fordulása több irodalmi forrás, bőrgyógyászati jelentés alapján 1 millió élveszületésre 1-50 érintettre tehető [1][2][3][4][5][6]. Az esetek egy részében már a születéskor jelen vannak az elváltozások, míg az enyhe tüneteket mutató páciensek csak kisded-vagy akár csak felnőttkorban fordulnak panaszaikkal orvoshoz [7].…”