Alezzandrini syndrome

What is Alezzandrini syndrome?

Alezzandrini syndrome is an acquired disorder of unilateral melanocyte destruction in the skin, hair, eye, and ear.

Who gets Alezzandrini syndrome?

Only a handful of patients with Alezzandrini syndrome have been described; both males and females between 12 and 30 years old at presentation.

What causes Alezzandrini syndrome?

The cause of Alezzandrini syndrome remains unknown. Viral or autoimmune processes leading to melanocyte destruction have been suggested. Melanocytes are located in the skin, retina, uvea, cochlea, and vestibular labyrinth, so any of these sites may be affected.

Alezzandrini syndrome is probably related to Vogt-Koyanagi-Harada (VKH) syndrome, as they share similar cutaneous and ocular signs, except Alezzandrini syndrome is unilateral. Neurological involvement typical of VKH syndrome (8^th cranial nerve damage, sterile meningitis) is not reported in Alezzandrini syndrome. The connection between the two syndromes remains unknown.

What are the clinical features of Alezzandrini syndrome?

The initial presentation may be unilateral gradual loss of vision, followed by facial vitiligo and poliosis on the same side several years later. Ipsilateral reduced sensitivity to sound or hypoacusis may also develop. Bilateral deafness has been reported in one patient.

Poliosis 

Vitiligo 

How is Alezzandrini syndrome diagnosed?

Alezzandrini syndrome is a clinical diagnosis.

Regular ophthalmological assessment is recommended due to the risk of a poor vision outcome:

• Fundus examination
• Visual acuity testing
• Fundus autofluorescence
• Spectral domain-optical coherence tomography imaging.

Audiometry is undertaken to assess hearing loss.

What is the treatment for Alezzandrini syndrome?

There are no treatments for Alezzandrini syndrome.

• Topical steroids have limited benefit for vitiligo.
• Sun protection is important to prevent sunburn in skin affected by vitiligo.
• Skin cancer risk should be assessed.

High dose oral steroids should be prescribed if the patient has symptoms suggestive of acute uveitis.

What is the outcome for Alezzandrini syndrome?

Due to the small number of reported cases, the prognosis of patients with this syndrome remains unknown.

Patients experience a gradual loss of vision and have an increased risk of retinal detachment. Progressive hearing loss has been reported.