Case Presentation
A 27-year-old female with congenital ichthyosis presented to the Isfahan MS clinic with right side vision loss. The decreased vision had started the day before the visit and, upon examination, visual acuity was 4/10 and 9/10 in the right and left eyes, respectively. A grade 2+ relative afferent pupillary defect was present. She received methylprednisolone 1000 mg daily for three consecutive days which resulted in a major improvement in her right visual acuity (9/10). Past medical history was unremarkable. Upon follow up the patient had bilateral upper limb paresthesia five months later. Brain magnetic resonance imaging (MRI) revealed multiple periventricular hyperintensities (figure 1-A). Diagnosis of (MS) was established based on the 2017 revised McDonald criteria (5), and dimethyl fumarate (DMF) was initiated.
The patient was a known case of moderate-severe congenital ichthyosis since birth. The exact type of ichthyosis is not known due to the lack of genetic testing and the patient’s missing records from childhood. The diagnosis was made based on clinical grounds and biopsy. She did not have any family history of MS or congenital ichthyosis. The patient is not married and was born full-term from healthy consanguineous parents (the patient’s parents are cousins). Physical examination showed extensive scaling and hyperkeratosis of the skin. (figure 1-B,C). The skin was painful in some regions, however, pruritis was not present.
The patient did not have any history of illicit drug or alcohol abuse. She did not take any medications rather than DMF. Complete blood count, liver and thyroid function tests, lipid profile, and creatinine were in the normal range. Coagulation factors seven (VII), eight (VIII), nine (IX), and ten (X) were also checked and were normal.