RESUMO
Tetrasomy 9p is a rare genetic syndrome resulting from two additional copies of the short arm of chromosome 9. Symptoms often present in the form of congenital abnormalities including cognitive disabilities, growth retardation, abnormal earlobes, congenital heart disease, and dysmorphia of the skull and face. Current literature suggests patients with tetrasomy 9p may exhibit any combination of these symptoms or, in rare instances, none at all. Although karyotyping, chromosomal microarray, and galactose-1-phosphate uridyltransferase activity analyses are the definitive diagnostic methods used, there remains a need for more robust clinical recognition in cases of mild phenotypic expression. Herein, we present a rare case of mosaic tetrasomy 9p in a long-term survival patient with multiple and recurrent pilomatrixomas, rare benign growths more commonly found in individuals under the age of 20. To our knowledge, only two previous reports have noted concurrent tetrasomy 9p with pilomatrixomas. We are the first to identify this phenotype in an adult tetrasomy 9p patient. Dermatopathology evaluation was conducted to verify our diagnoses. Our aim is to present a unique, additional case suggesting multiple pilomatrixomas as a new defining clinical presentation of mosaic tetrasomy 9p and to review the literature underlying the genetic changes associated with this syndrome.
Assuntos
Aneuploidia , Cromossomos Humanos Par 9 , Mosaicismo , Pilomatrixoma , Neoplasias Cutâneas , Humanos , Pilomatrixoma/genética , Pilomatrixoma/patologia , Pilomatrixoma/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Cromossomos Humanos Par 9/genética , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Doenças do Cabelo/genética , Doenças do Cabelo/patologia , Doenças do Cabelo/diagnóstico , Masculino , Adulto , FemininoRESUMO
PURPOSE OF REVIEW: In recent years, an increasing number of states have legalized marijuana, also known as cannabis, for recreational use. As marijuana becomes more accessible, adolescent use and accidental pediatric exposures are likely to become broad public health concerns. Edible marijuana products, which are consumable foods or beverages that contain cannabis extract, are particularly enticing to youth, as they come in appealing forms such as candies, cookies, and drinks. The purpose of this review is to provide pediatricians with an overview of the different types and potential dangers associated with edible marijuana products. RECENT FINDINGS: Edible marijuana products are often indistinguishable in appearance from normal food items and lack the smell and visible smoke associated with inhaled marijuana. Because they are inconspicuous, palatable, and easily accessible, they are increasingly popular among adolescents. Additionally, the packaging of edible baked goods, candies, and drinks is often purposefully very similar to that of mainstream foods, increasing the risk of accidental ingestion by children. An edible marijuana product must be digested before Δ9-tetrahydrocannabinol can enter the bloodstream, so there is a delayed onset of effects when consuming edibles compared with inhaling marijuana. This also predisposes users to accidental overconsumption. SUMMARY: Greater knowledge of edible marijuana product consumption by pediatric populations will allow pediatricians to more effectively help patients and advise caregivers in cases of overconsumption, dependence, or accidental ingestion. It is important for parents, guardians, and educators to be able to successfully identify edible marijuana products and recognize signs of cannabis use.
