D-2-Hydroxyglutaric Aciduria with Enchondromatosis and Angiokeratoma Circumscriptum

Area of Science:

• Genetics and rare diseases
• Dermatology
• Metabolic disorders

Background:

• D-2-hydroxyglutaric aciduria (D2HA) is a rare metabolic disorder.
• Enchondromatosis is a non-ossifying bone tumor condition.
• The co-occurrence of D2HA and enchondromatosis is exceptionally rare.

Observation:

• A four-year-old male presented with D2HA and enchondromatosis.
• He had a history of hyperpigmented skin lesions on his abdomen.
• He later developed angiokeratoma circumscriptum in a similar distribution.

Findings:

• This is the first reported case of angiokeratoma circumscriptum associated with D2HA and enchondromatosis.
• The patient's condition may be explained by underlying somatic mosaicism.
• A specific causative gene mutation remains unidentified.

Implications:

• This case expands the known clinical spectrum of D2HA and enchondromatosis.
• It suggests a potential association between these conditions and specific dermatological findings.
• Further research is needed to identify the genetic basis and understand the pathogenesis.