SESSION TITLE: Critical Care Cases I
SESSION TYPE: Affiliate Case Report Slide
PRESENTED ON: Sunday, October 25, 2015 at 03:15 PM - 04:15 PM
INTRODUCTION: Scleromyxedema is a rare disease characterized by idiopathic cutaneous mucinosis and generalized papular eruptions which show mucin deposition, increased fibroblast proliferation and fibrosis in the dermis. The most common presentation is a widespread papular eruption and is often associated with monoclonal gammopathy. Multiple organs including CNS can be involved as its extracutaneous manifestations.
CASE PRESENTATION: A twenty-eight-year old man was admitted to the critical care unit after being found unresponsive with urinary and fecal incontinence. He was in status epilepticus and thus intubated. Seizure activity required midazolam and propofol infusions, phenytoin and levetiracetam. History was significant for a rash and arthralgia of two years duration; family history was significant for Job's syndrome. Examination revealed chest and a facial rash. Laboratory findings included leukocytosis, lactic acidosis, elevated creatinine kinase and creatinine. CT scan of the brain and CSF studies were normal. IgA level was low which was inconsistent with Job’s syndrome. However, SPEP/UPEP levels were consistent with monoclonal gammopathy. EEG showed severe diffuse encephalopathy. Course was complicated by acute respiratory distress syndrome and acute renal failure, which both later improved. Despite therapeutic levels of anti-seizure medications, tonic-clonic seizures recurred with midazolam taper. Skin biopsy showed increased dermal mucin, interstitial histiocyte infiltrate, papular mucinosis and PAS stain negative; results indicative of scleromyxedema. A diagnosis of dermato-neuro syndrome secondary to scleromyxedema was established. He was treated with intravenous immunoglobulins (IVIG) and responded well.
DISCUSSION: We present a rare case of scleromyxedema with dermatologic and neurologic manifestations. IVIG is treatment of choice, however the response is not permanent and may require continuous infusions1. Response is measured by improvement of neurologic symptoms and cutaneous manifestations.
CONCLUSIONS: Dermato-neuro syndrome is a rare clinical presentation and can pose a diagnostic dilemma. Skin biopsy results should be obtained in a patient with a questionable rash and unclear etiology of seizure activity.
Reference #1: Rongioletti F et al. Scleromyxedema: a multicenter study of characteristics, comorbidities, course, and therapy in 30 patients. J Am Acad Dermatol 2013; 69:66
Reference #2: Fleming KE et al. Scleromyxedema and the dermato-neuro syndrome: case report and review of the literature. J Cutan Pathol 2012; 39:508.
DISCLOSURE: The following authors have nothing to disclose: Noelle Rolle, Fareeha Hafeez, Eghosa Eronmwon, Eduardo Del Orbe, Kim Moi Wong Lama
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