Darier disease: beware the cyst that smells

Area of Science:

• Dermatology
• Genetics
• Histopathology

Background:

• Darier disease is a rare autosomal dominant genodermatosis.
• It typically presents with greasy, hyperkeratotic papules and plaques.
• Ocular manifestations are uncommon but can occur.

Observation:

• A 32-year-old woman presented with bilateral cystic eyelid lesions.
• The lesions were associated with a foul-smelling discharge.
• Clinically, the lesions appeared indolent.

Findings:

• Excision biopsy was performed on the eyelid lesions.
• Histopathological examination confirmed the diagnosis of Darier disease.
• This rare condition was diagnosed despite the seemingly benign clinical presentation.

Implications:

• Early diagnosis of Darier disease is crucial for management.
• Ocular involvement necessitates specialized dermatological and ophthalmological care.
• Histopathology remains the gold standard for diagnosing rare genodermatoses.