D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum

Allie Preston,Walter Lamar,Jason M Hirshburg,Kara Reardon,Neil Crowson

doi:10.7759/cureus.6157

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.

Highlights

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
This is the first reported case of angiokeratoma circumscriptum associated with the rare condition of D2HA and enchondromatosis
D-2-hydroxyglutaric aciduria (D2HA) with enchondromatosis is a neurometabolic and skeletal disorder that has rarely been described in the literature in sporadic patients [1]

Summary

Introduction

D-2-hydroxyglutaric aciduria (D2HA) with enchondromatosis is a neurometabolic and skeletal disorder that has rarely been described in the literature in sporadic patients [1]. A four-year-old male with D2HA with enchondromatosis and acute myelogenous leukemia (AML) in remission presented to our clinic with a one-year history of hyperkeratotic, dark red papules coalescing into plaques primarily on his lower chest and upper abdomen (Figure 1). These lesions were asymptomatic except for occasional bleeding after trauma. J Am Acad Dermatol. 2019, 81:AB41. https://www.jaad.org/article/S0190-9622(19)31186-7/fulltext)

Discussion

Conclusions

Disclosures