Anomalii orale ereditare – copil diagnosticat cu epidermoliză buloasă

Introduction

Epidermolysis bullosa (EB) is a genetic disease with mucocutaneous damage caused by mutations in various structural proteins of the skin⁽¹⁾. The onset of the disease is usually in the first months after birth⁽²⁾, and in time there is a systemic disorder with numerous organ and system dysfunctions⁽³⁾. The general recurrence of inherited EB was assessed at 19.57 cases per 1 million live births⁽⁴⁾ and is accompanied by high morbidity and mortality⁽⁵⁾.

The spectrum of extracutaneous manifestations is wide, being mainly determined by the damage to the respiratory, gastrointestinal, urogenital and metabolic systems⁽⁶⁾. These include oral and dental abnormalities. Peri- and intraoral blisters, ankyloglossia, microstoma, dental enamel hypoplasia, tooth dysplasia, excessive caries, premature tooth loss, and tooth misalignment have been described⁽⁶⁾.

We present the case of a patient diagnosed with EB, suffering from numerous mouth injuries, dental abnormalities and severe swallowing disturbances.

Case report

We present the case of a female patient, aged 5 years and 2 months, who was admitted in a pediatric hospital from Bucharest for eating difficulties. From her personal physiological antecedents, she is the second-born child of the family, born in term, with a birth weight of 2300 g, Apgar score 8, and good postnatal evolution. From the age of about 3 years old, the child begins to experience bloody skin lesions that require numerous admissions to pediatric and dermatology hospitals. The heredo-collateral antecedentes highlights the presence in the mother’s childhood of non-characteristic skin rashes, which had not been diagnosed. The father and elder sister have no significant pathological history.

General clinical examination: on the skin of the upper limb, there are present vesicular-bullous type lesions, isolated or clustered, sometimes denuded and with signs of superinfection. The upper limbs also present onychodistrophy lesions and even nail amputation. Moreover, scars and sinuses can be found here, especially in the areas surrounding the interphalangeal joints. All these lesions are accentuated and expanded by exposure to heat.

At the facies level, scar tissue areas with extensive localization and numerous sinuses can be observed, along with microstoma. The functional examination reveals severe functional disorders of mastication and swallowing. Feeding is difficult, even though food is soft and liquid.

At the level of the oral cavity there are structural abnormalities leading to early caries with rapid evolution to root remnants. The patient has temporary dentition, with the dental status shown in Figure 1. The carious activity is increased, with the patient showing radical scrap at the level of: 54, 52, 51, 61, 62, 64, and extended carious processes at the level of 84 and 74 crowns. Also, hypoplastic enamel areas with a thin rough layer can be observed at the level of 53 and 63 crowns (Figure 2). The lingual mucosa has numerous vesicles, the tongue gaining a depressed appearance (Figure 3).
 

Discussion

Although the main manifestations in bullous epidermolysis are cutaneous, extracutaneous damage should not be neglected, significantly influencing the quality of life and survival. Oral and dental involvement is an important complication for most patients with EB, leading to a number of metabolic abnormalities as a result of eating difficulties⁽⁷⁾. In a meta-analysis published in 2012, Kramer et al.⁽⁸⁾ set out some guidelines regarding oral health care in patients with EB.

For patients diagnosed from birth, it is recommended that the first dental consultation be performed at the age of 3-6 months, to prevent early complications. Regular oral hygiene using a small and soft toothbrush is important for the prevention of tooth decay⁽⁸⁾. Furthermore, the professional use of an ultrasonic scaler, polish, and high-dose fluoride varnish at frequent intervals are recommended for all epidermolysis bullosa patients^(8,9). A good oral hygiene associated with an intense oral examination program will lead to a good nutritional status, to a decreased incidence of oral cavity infections, to an increased self-esteem by improving aesthetics, and also to the achievement of proper phonetics⁽⁸⁾.

In the case of already installed lesions, dental treatment should be done as early as possible, in some situations including extraction and replacement of the teeth⁽⁹⁾. In these patients, consideration should be given to the use of soft dressings and the careful positioning of the tube of aspiration in order not to cause injuries both intraoral and extraoral⁽¹⁰⁾.

As in the case of our patient, an important complication is swallowing due to strictures and lesions at the esophageal level. These are frequently described in the literature and contribute significantly to the worsening of nutritional status and increased morbidity and mortality⁽¹¹⁾.

Conclusion

Dental abnormalities in patients with EB represent a real challenge for the dentist. This group of patients require a special dental rehabilitation plan because they have generalized enamel hypoplasia and pose a significant risk of intraoral lesions.

Compliance with ethics requirements:

The authors declare no conflict of interest regarding this article.

The authors declare that all the procedures and experiments of this study respect the ethical standards in the Helsinki Declaration of 1975, as revised in 2008⁽⁵⁾, as well as the national law. The informed consent was obtained from the patient included in the study.

There was no funding for this study.  

Conflict of interests: The authors declare no conflict of interests.