Cargando…

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

Ejemplares similares

Angiokeratoma Circumscriptum in a Young Male
por: Sadana, Dinkar, et al.
Publicado: (2014)

Solitary angiokeratoma developed in one area of lymphangioma circumscriptum.
por: Kim, J. H., et al.
Publicado: (1988)

Late onset palmar angiokeratoma circumscriptum: An unusual presentation
por: Jindal, Saurabh R., et al.
Publicado: (2014)

Angiokeratoma circumscriptum neviforme: An entity, few and far between
por: Das, Anupam, et al.
Publicado: (2014)

Angiokeratoma Circumscriptum on the Breast: A Case with Unusual Features
por: Bansal, Anuva, et al.
Publicado: (2020)

Verrucous hemangioma and histopathological differential diagnosis with angiokeratoma circumscriptum neviforme
por: Oppermann, Kenselyn, et al.
Publicado: (2018)

Progress in understanding 2-hydroxyglutaric acidurias
por: Kranendijk, Martijn, et al.
Publicado: (2012)

Angiokeratoma circumscriptum of the buccal mucosa: a case report and literature review
por: Kang, Young-Hoon, et al.
Publicado: (2014)

A Case of Angiokeratoma Circumscriptum of the Tongue: Response with Carbon Dioxide and Pulsed Dye Laser
por: Kar, Hemanta Kumar, et al.
Publicado: (2011)

An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduria
por: Balaji, Padma, et al.
Publicado: (2014)

Writer’s cramp as a presentation of L-2-hydroxyglutaric aciduria
por: Termsarasab, Pichet, et al.
Publicado: (2014)

MRI features in 17 patients with l2 hydroxyglutaric aciduria
por: Fourati, Héla, et al.
Publicado: (2016)

L-2-hydroxyglutaric aciduria – review of literature and case series
por: Ahmed, Sibtain, et al.
Publicado: (2023)

L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
por: Kamath, Sneha Dayanand, et al.
Publicado: (2023)

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
por: Bozaci, Ayse Ergül, et al.
Publicado: (2023)

Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder
por: Srinivasaraghavan, Rangan, et al.
Publicado: (2021)

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
por: Pop, Ana, et al.
Publicado: (2017)

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants
por: Pop, Ana, et al.
Publicado: (2019)

Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?
por: Wankhade, Vaishali, et al.
Publicado: (2014)

Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds
por: Faiyaz-Ul-Haque, Muhammad, et al.
Publicado: (2014)

Evaluation of clinical, neuroradiologic, and genotypic features of patients with L-2-hydroxyglutaric aciduria
por: Zübarioğlu, Tanyel, et al.
Publicado: (2020)

Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria
por: Kular, Saminderjit
Publicado: (2019)

L2HGDH Missense Variant in a Cat with L-2-Hydroxyglutaric Aciduria
por: Christen, Matthias, et al.
Publicado: (2021)

Multiple enchondromatosis (Ollier disease)
por: Choh, Suhil A., et al.
Publicado: (2009)

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair
por: Rzem, Rim, et al.
Publicado: (2015)

Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D‐2‐hydroxyglutaric aciduria
por: Perales‐Clemente, Ester, et al.
Publicado: (2020)

A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
por: Phua, Yu Leng, et al.
Publicado: (2023)

2-Hydroxyglutaric aciduria as a cause for seizure-like episodes in a domestic shorthair cat
por: Nye, George J, et al.
Publicado: (2019)

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene
por: Phillips, E., et al.
Publicado: (2019)

Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever
por: Kumar, Suresh, et al.
Publicado: (2020)

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation
por: Li, Hongde, et al.
Publicado: (2018)

A 7-year-old Boy with Hand Tremors and a Novel Mutation for L-2-hydroxyglutaric Aciduria
por: Olgac, A, et al.
Publicado: (2019)

A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria
por: Farias, Fabiana HG, et al.
Publicado: (2012)

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria
por: Peng, Wei, et al.
Publicado: (2018)

Hereditary orotic aciduria identified by newborn screening
por: Staretz-Chacham, Orna, et al.
Publicado: (2023)

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model
por: Wang, Fang, et al.
Publicado: (2016)

Early-onset Childhood Sarcoidosis with Incidental Multiple Enchondromatosis
por: Lee, Jong-Hwa, et al.
Publicado: (2012)

A novel compound heterozygous mutation in a Chinese boy with L-2-hydroxyglutaric aciduria: a case study
por: Tai, Hongfei, et al.
Publicado: (2015)

Eyelid Angiokeratoma
por: Hussein, Ramadan S., et al.
Publicado: (2014)

Fordyce angiokeratoma
por: Koufakis, Theocharis, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_f67a52fk704a75up4uvqnj74ap