Publication:

Angiokeratoma in Hurler syndrome: a rare pediatric case report

Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is caused by alpha-L-iduronidase deficiency, leading to glycosaminoglycan (GAG) buildup and severe cognitive and physical impairments, typically presents with coarse facial features and usually manifests as cognitive developmental delay, corneal clouding and characteristic musculoskeletal manifestations. An interesting case of a three-year-old girl with a combination of skeletal, neurological, ophthalmologic, and radiological findings along with Mongolian spots present on back and widespread asymptomatic small, multiple, red skin lesions with rapid progression in the number and size of the lesions with MPS I- (Hurler syndrome) has been presented here in this case report. Diagnosis was confirmed with urinary investigation for GAG and serum levels of alpha-L-iduronidase. Angiokeratomas are bluish-red, hyperkeratotic papules caused by dilated blood vessels in the upper dermis which are typically seen in Fabry disease and rarely in Hurler syndrome. Their occurrence in a 3-year-old with classic Hurler features highlights the importance of considering uncommon dermatologic signs when evaluating patients with metabolic disorders.