Hereditary epidermolysis bullosa: Report of two cases

Epidermolysis bullosa (EB) describes a group of genetically determined disorders, characterized by blistering of the skin and mucosa. It is of dental interest because of its specific oral manifestations and management problems. Oral manifestations and management outline of two different types of EB are described.

Case 1

A 10-year-old Saudi girl presented for dental care at the Pediatric Dentistry Clinic of the College of Dentistry, King Saud University in Riyadh, Saudia Arabia. Medical history revealed that the patient is a known case of recessive dystrophic EB. The patient was anemic and suffering from multiple eye infections as well as upper respiratory tract infection. The patient had been managed only by palliative treatment of the skin with Flumazine cream. She had only one dental visit for incomplete root canal treatment of the upper central incisors, which was done in a private clinic. Family history revealed that there was no previous history of family skin disorders or consanguinity. The patient has two siblings (8-year-old sister and 6-year-old brother) who are severely affected by dystrophic EB. Extra-oral examination showed multiple bullae and vesicles all over the body with severe hands and legs involvement (Fig. 1a). The vesicles were large, red and infected. In addition, there were multiple scarrings and pigmentation (Fig. 1b). There was complete absence of finger nails (Fig. 1c), but the face was not severely involved although there were multiple skin milia (Fig. 1d). The patient was underweight. Intra-oral examination showed diminished oral opening, multiple vesicles and bullae, obliteration of the sulcus, ankyloglossia and tongue atrophy (Fig. 1e). Oral hygiene was very poor with thick plaque deposition. The teeth were hypoplastic with severe rampant caries affecting the permanent upper and lower incisors and the remaining primary teeth (Fig. 1f). The patient had class III malocclusion, the upper incisors and upper molars were in crossbite (Fig 1f). OPG examination revealed that all permanent teeth were present except the third molars, with pulp involvement of the upper centrals, lower centrals and lateral incisors. Treatment was planned to extract all the remaining roots of the upper and lower primary molars, to use fissure sealant and preventive resin restorations as indicated for all newly erupted teeth, to apply topical fluoride, to carry out composite restorations of small caries and to do root canal treatment for all pulpally involved permanent teeth. Oral hygiene instructions were given to the patient to use small-headed soft toothbrush and to use chlorhexidine mouth rinse twice a day. On the second visit, the father said that the patient could not use chlorhexidine mouthwash since it "burns the tongue and mucosa". Fissure sealant, preventive resin restorations and composite restorations were performed with difficulty since the patient could not open her mouth wide. Isolation and suction were achieved with caution. Formation of vesicles occurred after using saliva ejector (Fig. 1e). In the third visit, one extraction was done under intraligamentry injection of local anesthesia with some difficulties because the patient was uncooperative and could not be restrained. Then the patient failed to come for two visits. There was consultation with the anesthesiologist to continue treatment under general anesthesia. The anesthesiologist advised not to use general anesthesia approach because the case was severe and there was a possibility of developing airway obstruction due to blister formation and also due to recurrent upper respiratory tract infections. Patient was given appointment to complete extraction and to be referred to the endodontist for treating pulpally involved teeth but the patient failed to attend subsequent appointments.

Case 2

A 6-year-old Saudi girl presented for dental care at the Pediatric Dentistry Clinic, College of Dentistry, King Saud University in Riyadh. Medical history revealed that the patient is a known case of simplex EB. She had only been managed by palliative treatment for the skin lesions with fucidin ointment and potassium permanganate. Family history revealed that there was no previous history of family skin disorders or consanguinity. The patient had two previous emergency dental visits. Extraction of two teeth was done at these visits with some management difficulty. Then the patient was referred to the Pediatric Dentistry Clinic.

Extra oral examination showed multiple bullae and vesicles scattered on the face (Fig. 2a). They are maximal in the upper and lower limbs which ended up with erosions but no scarring (Fig. 2b). Some lesions had post healing hypopigmentation. There were no milia and no nail dystrophy (Fig. 2c). The patient was underweight. Intraoral examination showed no bullae on the oral mucosa at the time of the first examination (Fig. 2d). The mother gave history that oral bullae decreased as the child got older. Permanent upper central incisors were mildy hypoplastic with multiple carious lesions of other teeth (Fig. 2e). OPG examination showed that all permanent teeth were present except the third molars. There was an apical radiolucency around the lower primary canines and molars.

Treatment was planned to extract non-restorable primary teeth, to do composite restorations for small carious lesions and fissure sealant for all first permanent molars, to construct upper Nance and lower lingual arch space maintainers to be inserted and to apply fluoride therapy. Oral hygiene instructions were given to the patient.   Treatment was carried out as planned after behavior modification. Extraction was done under infiltration injection. Suction was used with caution to avoid formation of bullae. Treatment was completed without bullae formation. Patient was put on recall program every 3 months (Figs. 2 f, g, h).