Dystrophic epidermolysis bullosa associated with non-syndromic hypodontia
A12-year-old boy, a product of consanguineous marriage, was referred from the Department of Dermatology, Civil Hospital for favor of dental check-up. Patient was apparently alright at the time of birth. Patient developed vesicles and bullae 6 days after birth, over the face, scalp, trunk, and extremities, with loss of finger and toenails and inability to open the mouth wide. Oral hygiene was not practiced due to the formation of bullae following toothbrush trauma. The patient complained of toothache with food impaction in lower left posterior teeth region. History of pain, getting aggravated upon mastication and relieved upon medication was elicited from the patient. Pain was dull, intermittent, and non-radiating in nature. His diet was limited to soft or pureed foods. He had normal cognitive function and attended school. No allergies were reported.\nDermatological Examination revealed patchy alopecia over the scalp. Hyperkeratosis of palms and soles was seen. Sclerosis of fingers was present with fixed flexion deformity at distal interphalangeal joints and “claw-like” hands []. Fingernails are all intact except left thumbnail. Complete loss of toenails was seen []. Skin examination revealed generalized scarring with hypopigmented and hyperpigmented areas over the chest, back, and trunk. Nikolsky's sign was found to be positive in ankle region in the patient. Intraoral examination revealed healed lesions over the lower labial and lingual mucosa in canine-premolar region. White patch was seen over the right retromolar region [] with the overlying skin giving a collapsed/shrunken/shriveled appearance, suggestive of a freshly ruptured bulla. Oral hygiene was very poor and generalized gingival inflammation was seen []. He had a mixed dentition with severe occlusal carious lesions in first premolars and upper second molars. Both maxillary and mandibular lateral incisors and premolars were clinically missing. Detailed intraoral examination was not possible due to limited mouth opening caused by scarring of the lesions.