Alezzandrini Syndrome

Updated: Jun 21, 2016
  • Author: Camila K Janniger, MD; Chief Editor: William D James, MD  more...
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Overview

Background

In 1959, Casala and Alezzandrini [1] described a patient with vitiligo, poliosis, and unilateral pigmentary retinitis with hyperacusis. During the next 4 years, they observed 2 more patients with similar presentations and were convinced that the condition was a distinct clinical syndrome. In 1964, Alezzandrini [2] described 3 patients with unilateral tapetoretinal degeneration of the eye associated with ipsilateral facial vitiligo and poliosis. Two of these patients had hypoacusis.

The relationship between Alezzandrini syndrome and other syndromes involving vitiligo and eye pathology is uncertain. Among the most well-defined syndromes combining eye pathology and vitiligo is Vogt-Koyanagi-Harada syndrome. [3] The relationship of this syndrome to Alezzandrini syndrome is uncertain. In order to best describe Alezzandrini syndrome, a discussion of Vogt-Koyanagi-Harada syndrome is necessary.

In 1906, Vogt [4] reported a patient with nontraumatic uveitis, poliosis, and alopecia. He hypothesized that the uveitis and poliosis were due to a single disease process. In 1910, Gilbert [5] described a patient who had generalized vitiligo followed by bilateral uveitis and optic neuritis. In 1926, Harada [6] described 5 patients with a condition called acute diffuse choroiditis. These 5 patients had posterior uveitis that frequently resulted in retinal separation, severe headaches, fever, and confusion. In 1929, Koyanagi [7] reported 16 cases of a syndrome with findings of idiopathic bilateral anterior uveitis, dysacusis, vitiligo, poliosis, and alopecia, as well as a prodromal phase of headache, fever, and confusion. These entities have significant overlap and are considered to be one syndrome called Vogt-Koyanagi-Harada syndrome.

A patient was described with uveomeningitic disease with bilateral intermediate uveitis and macular edema, which could be interpreted as an atypical form of Vogt-Koyanagi-Harada disease or a new uveomeningitic syndrome because the patient had no evidence of any other known disease. [8] These disease categories can be complex.

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Pathophysiology

Although the etiology of Alezzandrini syndrome is unknown, several theories involving viral or autoimmune processes have been postulated.

Melanocytes originate in the neural crest then migrate to the skin, leptomeninges, retinas, uvea, cochleae, and vestibular labyrinths. Any disorder that destroys the melanocytes in the skin also affects other organs and systems such as the eye, ear, and central nervous system.

Evidence from 2008 suggests that CTLA-4 genetic polymorphisms may be associated with susceptibility to this syndrome. [9] A study from China found TNFAIP3 gene polymorphisms in a Chinese Han population with Vogt-Koyanagi-Harada syndrome. [10]

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Epidemiology

Frequency

United States

The condition is rare. In addition to Alezzandrini's original 3 cases, only 2 further cases of Alezzandrini syndrome have been reported. In 1992, Hoffman and Dudley [11] described a case of suspected Alezzandrini syndrome in a diabetic patient with retinal detachment. The presence of tapetoretinal degeneration could not be confirmed because of the retinal detachment. In 1994, Shamsadini and associates [12] described bilateral retinal detachment in a patient with Alezzandrini syndrome.

International

Alezzandrini syndrome, in its classic description, is extremely rare. Vogt-Koyanagi-Harada syndrome tends to occur in those with darker skin pigmentation. Asians, Native Americans, and Hispanics are most often affected. [13]

Race

Alezzandrini syndrome is not limited to a certain race.

Sex

Because Alezzandrini syndrome is a rare disorder, the sex prevalence is difficult to determine.

Age

Most patients initially presented when they were aged 12-30 years.

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Prognosis

The prognosis for Alezzandrini syndrome currently is unclear because of the paucity of reports. Future clinical observations may help in elucidating this matter.

Prognostic factors for Vogt-Koyanagi-Harada disease in Singapore were analyzed. [14] Early high-dose systemic corticosteroid therapy reduced inflammation, and, like a younger age at onset, was also associated with a better outcome.

Alezzandrini syndrome is a rare disorder with an unknown mortality rate. Most patients have retinal detachment and subsequent blindness. Hypoacusis is also described, but not in all of the reported patients.

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Patient Education

Educate patients about this rare disease. Advise patients to use sunscreens to prevent sunburn and subsequent skin cancer.

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