D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum

In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on his abdomen who later presented with an eruption of angiokeratoma circumscriptum within a similar distribution. His cond...

Descripción completa

Detalles Bibliográficos
Autores principales: Preston, Allie, Reardon, Kara, Crowson, Neil, Lamar, Walter, Hirshburg, Jason M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913950/
https://www.ncbi.nlm.nih.gov/pubmed/31890366
http://dx.doi.org/10.7759/cureus.6157

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913950/
https://www.ncbi.nlm.nih.gov/pubmed/31890366
http://dx.doi.org/10.7759/cureus.6157

Ejemplares similares