Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

Psammomatoid type juvenile ossifying fibroma of mandible.

Juvenile ossifying fibroma (JOF) is a rare fibro-osseous neoplasm that arises within the craniofacial bones in individuals under 15 years of age, and these lesions are usually benign and tend to grow slowly. The psammomatous type of juvenile ossifying fibroma (PsJOF) mainly involves the bones of the orbit and paranasal sinuses, whereas the trabecular type commonly involves the jaws. We are presenting a case of PsJOF of ramus of mandible in a 7-years-old boy, which is an uncommon condition, and histologically showed predominantly a cellular connective tissue stroma, composed of numerous spindle-shaped cells arranged in fascicular storiform pattern.

Condyloma acuminatum associated with odontogenic myxoma: a case report.

Condylomata acuminatum is a sexually transmitted infectious disease caused by human papiloma virus on the skin. The transmission is mainly by close contact with infected person and autoinoculation. In oral cavity the condition manifests as soft pink nodules which proliferate and coalesce rapidly to form diffuse papillomatous clusters of varying size.