Periodontal manifestation of epidermolysis bullosa: Looking through the lens.

Epidermolysis bullosa (EB) is a genetic disease associated with fragility and bullous lesions of the skin and mucous membranes. There are various patterns of inheritance and histopathology. The disease is associated with systemic and oral manifestations. Treatment of this disease is multidisciplinary and remains only palliative till today. The present case report describes periodontal manifestations of EB and the treatment plan for the same.

INTRODUCTION

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic disorders characterized by marked fragility of the skin and mucous membranes with blister formation occurring spontaneously or after mild trauma. It often manifests at birth or during the 1st year of life. EB is reported to affect all racial and ethnic groups. No gender predominance is seen with EB.[1] EB has been divided into four broad categories based on the level of blistering within the dermal-epidermal junction, namely, EB simplex, junctional EB and dystrophic EB, which comprises dominant and recessive variants, and Kindler syndrome, which is a mixed level of cleavage.[2] Oral features include repeated blistering and scar formation leading to limited oral opening, ankyloglossia, elimination of buccal and vestibular sulci, perioral stricture, severe periodontal disease and alveolar bone resorption, atrophy of the maxilla with mandibular prognathism, increased mandibular angle, and predisposition to oral carcinoma.[3]

We report a case of a 16-year-old female who complained of bleeding gums and bad breath with a past history of the formation of blisters all over the body and was diagnosed as a case of EB with mottled pigmentation. A brief review of disease with associated periodontal manifestations is presented in this paper.

CASE REPORT

A 16-year-old female presented to the Department of Periodontics and Implantology with the chief complains of bleeding from gums and bad breath since past 1–2 years and difficulty in taking any hot, spicy and hard food since childhood. The patient gave a history of spontaneous bleeding from gingiva since 5–6 years and frequent ulcerations in the oral cavity. A detailed medical and dental history of the patient revealed a history of the formation of blisters all over the body of the patient within hours after birth, and which had started to regress after the onset of puberty. The blisters appeared as bullous lesions which led to the formation of ulcers. The ulcers healed with scarring and milia formation. The patient was poorly built and nourished and also complained of frequent constipation and difficulty in urination since childhood.

Blisters on buccal mucosa and areas of depapillation of tongue were seen during intra-oral examination [Figure 1]. A detailed periodontal examination showed an excessive amount of plaque and calculus deposition. The gingival tissue was red, edematous, ulcerated, and bled easily on probing. The characteristic thin film of coagulated blood was present on upper anterior teeth. Grade 2 mobility was present in respect to 11, 12, 21, 22, 31, 32, 41, 42. Pathologic migration was also seen in respect to upper anterior teeth [Figure 2]. The panoramic radiograph of the patient showed generalized extensive horizontal bone loss with some areas having vertical defects [Figure 3].

Figure 1

Blisters of oral mucosa

Figure 2

Periodontal status of patient showing extensive calculus deposition and generalized gingival inflammation

Figure 3

Orthopantomogram of patient showing generalized extensive horizontal bone loss with some areas having vertical defects

The patient was referred to Department of Dermatology, SMS Medical College, Jaipur, where a detailed physical examination revealed that bullous lesions with scarring and milia formation were present all over the body. Some dystrophy of nails was also observed. The skin of patient had characteristic cigarette paper-like appearance with some atrophy. The patient was diagnosed with EB dystrophic on the basis of clinical findings [Figure 4].

Figure 4

Dermal manifestations of patient showing cigarette paper like appearance of skin

The patient was subjected to hematological investigations and a punch biopsy of the skin lesion was obtained. Light microscopic examination of a skin biopsy demonstrated a subepithelial cleft [Figure 5].

Figure 5

Histopathology of skin biopsy showing subepithelial cleft

The patient was informed about her condition and was advised to take a nutritious balanced diet. A conservative treatment plan was adopted for the patient due to excessive bleeding and frequent ulcerations developing even with mild trauma. Full mouth scaling, root planning, and local drug delivery with tetracycline fibers was done. The patient was asked to strictly follow the oral hygiene instructions given and was also advised to rinse with 10 ml of 0.2% chlorhexidine mouthwash twice a day. A topical hydrocortisone crème and the anesthetic gel were prescribed to the patient for oral ulcerations. The patient is under follow-up for skin lesions in the Department of Dermatology and for the periodontal condition in the Department of Periodontics and Implantology and is responding well to the treatment plan.

DISCUSSION

EB refers to an uncommon group of skin disorders that are either acquired or genetically transmitted as either autosomal-dominant and autosomal-recessive traits. The prominent clinical characteristic of the disease is the development of bullae or vesicles in response to minor mechanical trauma. These lesions generally appear on the skin, but mucosal lesions are also common.[3] Accurate diagnosis is necessary prior to the institution of any form of therapy, and oral manifestations are invaluable in providing this diagnosis.

The condition is caused by anomalous adhesion of the epithelial components. Due to the lack of cohesion, blisters form following minor trauma.[4] The dystrophic form presents as greatest oral manifestations vesicles that rapidly tear, even with a diet of soft foods, leaving erosive surfaces on the mucosa of cheeks, tongue, uvula, and lips. Other possible manifestations of this disease are tongue denudation, vestibule obliteration, ankyloglossia, and microstomia.[5] In this reported case, the patient presented most of these oral manifestations; only ankyloglossia and microstomia was not evident. Liversidge et al., 2005.[6] suggested that permanent tooth maturation proceeds normally in children with dystrophic type, which was in correlation with the findings in our case, but not in correlation with the study conducted by Wright et al. in 1993.[7] which stated that severe enamel and dentin defects are seen in patients with EB. Wright et al. 1994.[8] have shown that the prevalence of caries was significantly higher in EB individuals than among healthy people which was not in correlation with the findings in our case report.

The treatment for patients with EB is multidisciplinary and palliative. Secondary infections must be treated with topical and/or systemic antibiotics. A protein-rich diet, along with supplements containing iron and zinc must be provided. Oral ulceration due to trauma during dental manipulation can be limited by the mucosa lubrication with hydrocortisone cream or petroleum jelly.[9] For the skin lesions, genetically corrected cell grafts and gene-carrying modified viruses are promising, but drawbacks include cost, graft fragility, and viral vector safety.[10]

CONCLUSION

EB is considered an uncommon skin and mucous membranes disorder. This case report clearly depicts that how the dental and periodontal manifestations can lead to the diagnosis of a systemic disease. Dentists should be aware of its presentation to assist in early diagnosis and to provide the patient with the proper preventive treatment extreme care during the dental treatment should be adopted to minimize the blisters and erosions lesions in the oral cavity. The present case report outlines the clinical presentation and management of this disease, which would help the dental clinician to better recognize its signs and symptoms and to provide a better oral care to these individuals.

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Conflicts of interest

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