Familial hypercholesterolemia presenting as intracranial xanthoma

Area of Science:

• Otolaryngology
• Dermatology
• Metabolic Disorders

Background:

• Cholesteatoma management often involves routine medical evaluations.
• Hypercholesterolemia can present with diverse cutaneous manifestations.
• Xanthomas are lipid deposits that can occur systemically.

Observation:

• A 22-year-old female presented for medical fitness evaluation for a right ear cholesteatoma.
• Incidental findings included tuberous and tendon xanthomas, alongside diagnosed hypercholesterolemia.
• Surgical exploration revealed a yellowish mass in the mastoid, characterized by foamy macrophages.

Findings:

• The mastoid mass was histopathologically suggestive of a 'mastoid xanthoma'.
• This represents a rare presentation of xanthoma within the mastoid bone.
• The patient's condition was linked to underlying hypercholesterolemia.

Implications:

• Highlights the importance of thorough examination, even for seemingly unrelated conditions.
• Suggests a potential association between cholesteatoma and lipid metabolism disorders.
• Emphasizes the need for early diagnosis and management of hypercholesterolemia to prevent xanthoma progression and complications.