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Case Reports
. 2019 Nov 14;11(11):e6157.
doi: 10.7759/cureus.6157.

D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum

Allie Preston  1 , Kara Reardon  2 , Neil Crowson  3 , Walter Lamar  3 , Jason M Hirshburg  2
Affiliations
Case Reports

D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum

Allie Preston et al. Cureus. .

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.

Keywords: angiokeratoma; d-2-hydroxyglutaric aciduria; enchondromatosis; somatic mosaicism.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Hyperkeratotic, dark red vascular appearing papules coalescing into plaques on chest and abdomen
Figure 2
Figure 2. Hyperkeratosis with dilated, blood-filled, endothelial-lined spaces present immediately beneath the epidermis
Figure 3
Figure 3. Segmental, streaked, and whorled, hyperpigmented patches
See this image and copyright information in PMC

References

    1. Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. Yeetong P, Phewplung T, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Skeletal Radiol. 2018;47:1577–1582. - PubMed
    1. Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) Vissers LELM, Fano V, Martinelli D, et al. Am J Med Genet A. 2011;155:2609–2616. - PubMed
    1. Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. Choo HJ, Cho T-J, Song J, et al. Skeletal Radiol. 2012;41:1479–1487. - PubMed
    1. Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination. Honey EM, van Rensburg M, Knoll DP, Mienie LJ, van de Werke I, Beighton P. Clini Dysmorphol. 2003;12 - PubMed
    1. Angiokeratoma circumscriptum neviforme: revisiting a rare entity. Podder I DA, Gaharami Gaharami, RC RC. Indian J Pediatric Dermatol. 2015;16:246–248.

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