Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India
An 18-year-old female patient reported to department of Oral Medicine and Radiology, Yenepoya Dental College, Yenepoya University, Mangalore with a complaint of discolored teeth since childhood. Her past dental history revealed similar type with early loss of tooth structure in deciduous dentition. Her medical history revealed presence of multiple dermal lesions, which started appearing immediately after birth, which was later diagnosed as EB. She is second child from a consangious marriage and her sister is also affected with similar dermal lesions since childhood. Her gait was abnormal owing to non-healing ulcer in feet. Blisters were seen on the lower part of feet with irregular borders and yellowish slough present at the base of the lesions []. Scarring of healed lesions on knee was also noticed [].\nOn examination, diffuse reddish pseudo membranous area is seen extending from external occipital protuberance and spreading bilaterally until ear and extends until scapula. Loss of hair is seen with respect to that area. There was presence of itching and burning sensation in the affected area. Surface was erythematous with yellowish slough []. On intra oral soft tissue examination, a vesicle was seen on the right rugae area on the hard palate []. However, there was no abnormal eruption pattern noticed. From a functional point of view, she had been avoiding hard food substances and carious lesion was noticed affecting enamel and dentin of teeth.\nOn detailed hard tissue examination, it was found that she had a normal complement of teeth. Height of teeth was reduced because of complete chipping of enamel and exposing dentin. Underlying dentin appears to be normal. The surfaces of the teeth were rough. The teeth, in general, exhibited a yellowish brown discoloration, with diffuse pitting present on the exposed tooth surfaces, more prominent on the labial and buccal aspects. The emergence pattern and timing of teeth seemed to be within the normal range. No occlusal disharmony is present [].\nPanoramic radiograph revealed a normal pulp chamber and root canal spaces. The enamel was completely lost, radiopaque dentin is clearly appreciated []. Based on history, clinical and radiographic features we arrived at diagnosis of hypoplastic, rough, autosomal recessive AI. Patient was advised to undergo biopsy and immunoflourense test, but owing to unwillingness of patient's parents regarding non-healing of wound, tests could not be carried out. Aesthetic restoration was carried out with the composite veneering in relation to maxillary central incisors and left lateral incisor and patient is undergoing restoration of other teeth []. The patient was also referred for dermatological treatment.