To describe a case of Degos’ disease presenting with brainstem strokes, multiple cranial neuropathies, and myelopathy.

Degos’ disease (malignant atrophic papulosis) is a rare vasculopathy of unclear etiology. Its skin findings are pathognomonic, namely porcelain white atrophic lesions with telangiectatic rim. There are two variants, a cutaneous form and a systemic form involving the nervous system. The pathophysiology involves vascular deposition of terminal complement C5b-9 and inappropriate type 1 interferon.

A 15 year old female presented after a year of progressive neurologic deterioration. Symptoms developed gradually and included right facial numbness, blurry vision, dysphagia, left leg numbness, gait instability, urinary incontinence, constipation, and headache. She also developed small white circular lesions on her legs and abdomen. Her exam was remarkable for brainstem and spinal cord signs including mild dysarthria, left CN III, left CN VI and right CN VII palsies, right end gaze nystagmus, lower extremity weakness, hyperreflexia and a T8 sensory level. MRI brain revealed T2 hyperintense lesions involving the midbrain, pons and brainstem, some of which demonstrated restriction diffusion. There was diffuse enhancement of the leptomeninges as well as the right CN VII and bilateral CN III and V. MRI spine also demonstrated a longitudinally extensive T2 hyperintense lesion with contrast enhancement from T5 through T8. CSF studies revealed protein 431 mg/dl, 12 WBC and 7 RBC. Extensive infectious and autoimmune studies were negative. Diagnosis was ultimately rendered by skin biopsy. The patient underwent treatment with established agents including eculizumab, treprostinil and anticoagulation as well as novel agents ruxolitinib (Jak inhibitor) and tocilizumab (IL-6R inhibitor). Unfortunately, she further deteriorated and expired from respiratory failure.

Degos' disease is an extremely rare cause of progressive neurologic decline associated with multiple cranial neuropathies, ischemic and hemorrhagic strokes, myelopathy and/or polyradiculopathy. A thorough skin exam is critical to make the diagnosis.