A 61-year-old man with progressive gait imbalance and skin lesions
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© 2020 American Academy of Neurology
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Budhram et al.
• A 61-year-old man developed progressive gait imbalance and papular skin lesions over nine months
• Fatigue reported but no other constitutional symptoms
• Neurologic examination revealed gait ataxia
• Brain MRI demonstrated punctate enhancing foci supratentorially, and patchy pontine T2-hyperintensity without pituitary or orbital abnormality
• Skin biopsy: histiocytic neoplasm. CD1a,negative; S100,weakly positive; positive,CD163, Factor 13A, BRAF V600E
© 2020 American Academy of Neurology
Figure 1 Figure 2
Budhram et al.
© 2020 American Academy of Neurology
Brain and skin involvement in Erdheim-Chester disease
• Brain involvement occurs in up to half of patients with Erdheim- Chester disease
• Brain involvement may manifest radiographically as pontine or cerebellar T2-hyperintensity
• Multifocal punctate enhancement has also been reported
• Skin involvement is observed in ~25% of patients
• Xanthelasma-like lesions are most common, although cutaneous xanthoma-like lesions are also possible
Budhram et al.
© 2020 American Academy of Neurology