Severe retention hyperkeratosis occurring with Susac syndrome

Area of Science:

• Dermatology
• Neurology
• Ophthalmology

Background:

• Susac syndrome (retinocochleocerebral vasculopathy) is a rare autoimmune disease affecting the brain, retina, and inner ear.
• Skin manifestations, while not typical, can occur in autoimmune and neurological conditions.
• Retention hyperkeratosis is a benign skin condition characterized by abnormal desquamation.

Observation:

• A 50-year-old woman presented with asymptomatic, yellow, hyperkeratotic facial plaques that developed over six months.
• The patient had a history of Susac syndrome diagnosed two years prior.
• A punch biopsy confirmed retention hyperkeratosis.

Findings:

• The case highlights a unique presentation of retention hyperkeratosis in a patient with untreated Susac syndrome and an associated psychiatric condition.
• Retention hyperkeratosis, typically linked to poor hygiene or conditions like acne and ichthyosis, was unusually prominent in this patient.
• The findings suggest a potential, though not fully elucidated, link between systemic conditions and specific dermatological presentations.

Implications:

• This case underscores the importance of considering systemic diseases in dermatological presentations, even for seemingly benign conditions.
• It suggests that underlying health issues, including autoimmune and psychiatric disorders, may influence skin health and presentation.
• Further research may explore the relationship between Susac syndrome, psychiatric comorbidities, and dermatological findings like retention hyperkeratosis.