Oral and Maxillofacial Radiology Commons^™

Identifying Pyle's Metaphyseal Dysplasia – An Incidental Finding Of Skeletal Pathology On A Dental Checkup, Shruthi Parthasarathy, Amudhan Azhagan, Arthisri Anandhi Sekar, Poongodi V, Ram Shankar

Chulalongkorn Medical Journal

Introduction:

Pyle's disease, also known as familial metaphyseal dysplasia, is a rare autosomal recessive genetic disorder that primarily affects the skeletal system, particularly in children and adolescents. Characterized by distinctive radiographic features such as Erlenmeyer flask deformity and metaphyseal widening, Pyle's disease often goes underdiagnosed due to its mild clinical manifestations.

Case report:

This case report details a 15-year-old female patient presenting with retained milk teeth and unerupted permanent teeth, alongside notable skeletal abnormalities including genu valgum and kyphosis. Clinical and radiographic evaluations revealed significant dental anomalies, including multiple impacted permanent teeth and mild dysmorphic facial features. Although genetic testing …

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …