Utilization of skin biopsy for diagnosis in a case of Lafora disease

Krasimira A. Rozenova, Julia S. Lehman, Joseph P. Grande, Anthony L. Fine, Carilyn N. Wieland

Research output: Contribution to journalArticlepeer-review


Lafora disease is a rare inherited neurodegenerative disease with onset in adolescence. Patients present with progressive myoclonic seizures and cognitive decline. The disease is linked to mutations in either of the two genes encoding malin and laforin, and it is associated with the accumulation of polyglucosan inclusions (Lafora bodies [LBs]) in various tissues, such as brain, liver, muscle, and skin, with the skin being particularly accessible for biopsy. Histopathologic examination of affected tissue with demonstration of LBs, together with the presence of pathologic mutation in EPM2A or NHLRC1 genes, is sufficient for diagnosis of this neurologic disorder when clinically suspected. Here, we report the case of a 16-year-old female with progressive neurologic symptoms and homozygous mutation in the NHLRC1 gene encoding malin. The skin biopsy was instrumental in reaching the final diagnosis by showing LBs in sweat glands by histopathologic and electron microscopic examination.

Original languageEnglish (US)
JournalJournal of Cutaneous Pathology
StatePublished - Oct 2022


  • Lafora disease
  • genetic disorders
  • neurologic disease
  • polyglucosan body
  • sweat glands

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Dermatology


Dive into the research topics of 'Utilization of skin biopsy for diagnosis in a case of Lafora disease'. Together they form a unique fingerprint.

Cite this