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Cutaneous Findings of Sporadic, Adult-Onset Neuronal Intranuclear Inclusion Disease
Jakob M T Moran1, Katharina Eikermann-Haerter2, Otto Rapalino3
1Clinical Fellow in Pathology, Department of Pathology, Massachusetts General Hospital, Boston, MA.
The American Journal of Dermatopathology
|December 10, 2021
Summary
Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Skin biopsies are a valuable diagnostic tool, revealing characteristic ubiquitin-positive intranuclear inclusions.
Area of Science:
- Neurology
- Pathology
- Genetics
Background:
- Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder.
- Its hallmark is ubiquitin-positive intranuclear inclusions in neuronal and non-neuronal cells.
Observation:
- A case study of a 61-year-old Asian man with NIID is presented.
- The patient exhibited altered mental status, bladder dysfunction, and cerebrovascular accidents.
- Characteristic MRI findings included high signal at the cortico-medullary junction and cerebellar T2 hyperintensity.
Findings:
- Skin biopsies revealed ubiquitin-positive intranuclear inclusions in eccrine epithelium and dermal fibroblasts.
- Ultrastructural analysis showed filamentous material without a limiting membrane.
- These findings are consistent with NIID.
Implications:
- This case underscores the diagnostic utility of skin biopsies for NIID.
- Accessible skin biopsies can aid in the early diagnosis of this rare neurodegenerative disease.
- Further research into NIID pathogenesis and treatment is warranted.
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