A New Case of Schindler Disease

Authors

• Rubén García Castro Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Ana María González Pérez Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• María Concepción Román Curto Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Javier Cañueto Álvarez Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Alberto Conde Ferreirós Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Alex Viñolas Cuadros Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• David Moyano Bueno Department of Dermatology, Hospital Clínico Universitario de Salamanca, Salamanca, Spain
• Antonio Javier Chamorro Fernández Department of Medicine, Hospital Clínico Universitario de Salamanca, Salamanca, Spain

rubengarciacastro.mail@gmail.com

Keywords

Abstract

Lysosomal storage disorders (LSDs) are a group of genetic disorders caused by mutations in genes encoding enzymes involved in lysosomal function. Schindler disease is an autosomal recessive, inherited LSD caused by defective or non-existent activity of the enzyme ?-N-acetylgalactosaminidase (?-NAGA). To date, three main phenotypes of Schindler disease have been described. We report the case of a 68-year-old man presenting with axonal and demyelinating polyneuropathy, sensorineural hearing loss, chronic lymphoedema, angiokeratoma corporis diffusum and bilateral carpal tunnel syndrome. Genetic testing (PCR) for ?-galactosidase revealed the c.577G>T (p.Glu193*) mutation in the NAGA gene, confirming Schindler disease, which is clinically compatible with Kanzaki disease and Schindler disease type II.