Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

Oral focal mucinosis: clinical case presentation with a focus on aesthetic and functional surgical resolution

Introduction: When planning excisional surgery, alterations in the oral mucosa, particularly in esthetically important areas, represent a challenge. For cases involving an exophytic lesion with a vegetative tumoral aspect, a clinician may prioritize obtaining a definitive diagnosis by histopathologic and histochemical examinations over the preservation of esthetics or maintenance of the involved tooth. Case Presentation: A painless, hard lesion with normal coloration was present in the maxillary left central incisor of a patient for at least 6 years. A biopsy was performed to preserve oral mucosa and a treatment plan was established that included endodontic retreatment and prosthetic restoration. The histopathologic diagnosis was oral focal mucinosis, an uncommon and poorly characterized type of lesion. Conclusion: A conservative biopsy of the lesion facilitated an accurate diagnosis, promoted the patient’s comfort, and achieved satisfactory esthetic results.

Análise quantitativa das descargas epileptiformes generalizadas e da neuroimagem de pacientes com epilepsia generalizada idiopática

Pós-graduação em Fisiopatologia em Clínica Médica - FMB