Angiokeratoma corporis diffusum universale, a clinical variant of angiokeratoma, is a generalized vascular ectasia that is associated with overlying epidermal changes rather than a true vascular neoplasm. It is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins. Herein, we present possibly the first case report from Nepal of angiokeratoma corporis diffusum universale in a 14-year-old female from consanguineous parents who presented herself with characteristic clinical and laboratory features of angiokeratoma corporis diffusum with progressive mental and motor developmental delay along with seizures, dystonia, and recurrent chest infections. Resource constraints limited confirmation with an enzyme assay and electron microscopy. We report this unusual case with the intention of re-emphasizing the importance of clinical evaluation in reaching a diagnosis in a resource-deficient setting.
Angiokeratoma corporis diffusum universale: A rare case report from Nepal