# An Unusual Case of Anderson-Fabry Disease: Case Report **Authors:** Alpana Mohta, Achala Mohta, Pramila Kumari PMC · DOI: 10.2196/49573 · JMIR Dermatology · 2024-01-16 ## TL;DR A 12-year-old boy with angiokeratoma and other symptoms is reported, suggesting a rare case of Anderson-Fabry disease. ## Contribution The report highlights a rare case of Anderson-Fabry disease with specific clinical features in a young patient. ## Key findings - A 12-year-old boy presented with angiokeratoma corporis diffusum and sensorineural deafness. - The case included acroparesthesias and renal involvement, typical of Anderson-Fabry disease. ## Abstract Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement. ## Linked entities - **Diseases:** Anderson-Fabry disease (MONDO:0010526), angiokeratoma corporis diffusum (MONDO:0010526), sensorineural deafness (MONDO:0010576) ## Full-text entities - **Genes:** GLA (galactosidase alpha) [NCBI Gene 2717] {aka GALA} - **Diseases:** hypoalbuminemia (MESH:D034141), albuminuria (MESH:D000419), stroke (MESH:D020521), hyperkeratosis (MESH:D017488), renal disease (MESH:D007674), hypertrophic cardiomyopathy (MESH:D002312), Renal involvement (MESH:C565423), neuropathic pain (MESH:D009437), neurological, or (MESH:D009461), Kanzaki disease (MESH:C536631), angiomatous papules (MESH:D008579), renal tubular acidosis (MESH:D000141), skin lesions (MESH:D012871), diabetic nephropathy (MESH:D003928), Hypertension (MESH:D006973), end-stage renal disease (MESH:D007676), thrombocytopenia (MESH:D013921), acroparesthesia (MESH:D010292), cervical lymphadenopathy (MESH:D002575), asthenia (MESH:D001247), capillary malformations (OMIM:163000), lysosomal defects (MESH:D016464), angiokeratoma (MESH:D000794), proteinuria (MESH:D011507), ocular abnormalities (MESH:D005124), fucosidosis (MESH:D005645), hearing loss (MESH:D034381), renal failure (MESH:D051437), inflammation (MESH:D007249), Fanconi syndrome (MESH:D005198), sialidosis (MESH:D009081), X-linked disorder (MESH:D040181), febrile illness (MESH:D005334), Anderson-Fabry Disease (MESH:D000795), visual disturbances (MESH:D014786), mannosidosis (MESH:D044904), sensorineural deafness (MESH:D006319), seizures (MESH:D012640), pains (MESH:D010146), epidermal hyperplasia (MESH:D006965), monosialotetrahexosylganglioside gangliosidosis (MESH:D005733), microcytic hypochromic anemia (MESH:C536357), papular eruptions (MESH:C537169), hypoproteinemia (MESH:D007019) - **Chemicals:** GL3 (-), glycosphingolipid (MESH:D006028), lyso-GL3 (MESH:C063288), globotriaosylceramide (MESH:C018549) - **Species:** Homo sapiens (human, species) [taxon 9606] ## Full text _Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC10828944/full.md ## Figures 2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10828944/full.md ## References 9 references — full list in the complete paper: https://tomesphere.com/paper/PMC10828944/full.md --- Source: https://tomesphere.com/paper/PMC10828944