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- W2988403010 abstract "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 condition can likely be explained by underlying somatic mosaicism; however, a unifying culprit gene mutation has not yet been identified. To date, only 10 reported cases of D2HA with enchondromatosis are available in the literature with three reported skin findings. This is the first reported case of angiokeratoma circumscriptum associated with the rare condition of D2HA and enchondromatosis." @default.
- W2988403010 created "2019-11-22" @default.
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- W2988403010 date "2019-11-14" @default.
- W2988403010 modified "2023-10-03" @default.
- W2988403010 title "D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum" @default.
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- W2988403010 doi "https://doi.org/10.7759/cureus.6157" @default.
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