Oral submucous fibrosis (OSMF)

Chronic, premalignant (1% transformation risk) condition of the oral cavity, characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues (the lamina propria and deeper connective tissues). Occurs at any age but M/C in 25-35 years (2nd-4th decade) Insiduous onset & 2-5 year duration M/C affected site: Buccal mucosa (21%) Palate (18%) Classification…

Proteus syndrome (PS)

Disorder of patchy/mosaic postnatal growth dysregulation (primarily involving overgrowth) of unknown aetiology. Pathophysiology Somatic genetic activation mutation of the AKT1 gene  Clinical features Disorder primarily manifests as postnatal overgrowth, with irregular, distorting and progressive overgrowth that can include many tissues in a patchy/mosaic pattern. Typically asymmetric and location varies remarkably Commonly involved tissue: Connective tissue…

Jamaican vomiting sickness

Acute illness caused by the toxins hypoglycin A & B, which are present in fruit of the ackee tree. While in the fully ripened arils, hypoglycin A is at levels of less than 0.1 ppm, in unripe arils it can be over 1000 ppm and cause vomiting and even death Pathophysiology Hypoglycin A ↓ Methylenecyclopropylacetic acid…

Selective mutism (SM)

Anxiety disorder in which a person who is normally capable of speech cannot speak in specific situations or to specific people. Usually co-exists with shyness or social anxiety People with selective mutism stay silent even when the consequences of their silence include shame, social ostracism, or punishment. Diagnostic and Statistical Manual of Mental Disorders (DSM-5;…