Abstract
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.
Highlights
CASE REPORTAngiokeratomas are rare vascular ectasias with epidermal changes rather than true vascular neoplasms
Angiokeratoma corporis diffusum, known to occur in several enzyme deficiency diseases involved in the metabolism of glycoproteins, such as fucosidosis, sialidosis, mannosidosis, gangliosidosis, and Kanzaki disease, is a multisystem disorder [2]
Ours could be the first reported case of angiokeratoma corporis diffusum from Nepal accompanied by various morbidities and systemic manifestations
Summary
Angiokeratomas are rare vascular ectasias with epidermal changes rather than true vascular neoplasms These malformations clinically present themselves as single or multiple dark red to black papules, nodules, or plaques and histologically by superficial ectatic vessels with epidermal proliferation. Angiokeratoma corporis diffusum (ACD) is its diffuse involvement, typically on the lower trunk, buttocks, and thighs, usually associated with an enzyme deficiency in the metabolism of glycoproteins. Angiokeratoma corporis diffusum, known to occur in several enzyme deficiency diseases involved in the metabolism of glycoproteins, such as fucosidosis, sialidosis, mannosidosis, gangliosidosis, and Kanzaki disease, is a multisystem disorder [2]. No language skills were present and vocal sounds lacked meaning She was showing features of seizures and myoclonic jerks. The clinical pictures of angiokeratoma corporis diffusum, neuroregression, spasticity, dystonia, coarse facies, dysostosis multiplex, and hepatomegaly, were. Ours could be the first reported case of angiokeratoma corporis diffusum from Nepal accompanied by various morbidities and systemic manifestations
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
