eMedicine Specialties > Dermatology > Pediatric Diseases

Alezzandrini Syndrome

Author: Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Coauthor(s): Ewa Koziorynska, MD, Staff Physician, Department of Neurosciences, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: Dec 7, 2009

Introduction

Background

In 1959, Casala and Alezzandrini1 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, Alezzandrini2 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, Vogt4 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, Gilbert5 described a patient who had generalized vitiligo followed by bilateral uveitis and optic neuritis. In 1926, Harada6 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, Koyanagi7 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.

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

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 Dudley10 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 associates11 described bilateral retinal detachment in a patient with Alezzandrini syndrome.

International

Alezzandrini syndrome, in its classic description, is extremely rare.

Mortality/Morbidity

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.

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.

Clinical

History

  • A gradual loss of visual acuity initially occurs, predominantly in one eye.
  • The hair and skin in affected areas lose their pigmentation.
  • In one patient, ipsilateral hypoacusis was a late finding.
  • Bilateral deafness developed in one patient.

Physical

  • Alezzandrini syndrome is characterized by unilateral tapetoretinal (retinal pigmented epithelia) degeneration with the ipsilateral appearance of facial vitiligo and poliosis, as shown in the image below.

  • Gray forelock and vitiligo on the forehead in a p...

    Gray forelock and vitiligo on the forehead in a patient with Alezzandrini syndrome.

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    Gray forelock and vitiligo on the forehead in a p...

    Gray forelock and vitiligo on the forehead in a patient with Alezzandrini syndrome.

  • Ipsilateral perceptual deafness may be an additional finding.
  • Unilateral cutaneous and retinal disease also characterize Alezzandrini syndrome.
  • The symptom originally described was a gradual loss of visual acuity, which predominantly affected one eye.
  • Lorincz12 believes that the gradual loss of visual acuity on the ipsilateral side is the criterion that should be used to diagnosis Alezzandrini syndrome.
  • After 3-13 years, vitiligo and poliosis develop on the head, on the side ipsilateral to the retinal lesions.

Causes

  • The condition has an unknown etiology.
  • Several theories, including those involving viral or autoimmune processes, are postulated.

More on Alezzandrini Syndrome

Overview: Alezzandrini Syndrome
Differential Diagnoses & Workup: Alezzandrini Syndrome
Treatment & Medication: Alezzandrini Syndrome
Follow-up: Alezzandrini Syndrome
Multimedia: Alezzandrini Syndrome
References
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References

  1. Casala AM, Alezzandrini AA. Vitiligo, poliosis unilateral con retinitis pigmentaria y hypoacusia. Arch Argent Dermatol. 1959;9:449.

  2. Alezzandrini AA. [Unilateral manifestations of tapeto-retinal degeneration, vitiligo, poliosis, grey hair and hypoacousia]. Ophthalmologica. 1964;147:409-19. [Medline].

  3. Barnes L. Vitiligo and the Vogt-Koyanagi-Harada syndrome. Dermatol Clin. Apr 1988;6(2):229-39. [Medline].

  4. Vogt A. Fruhzeities ergraven der zilien und bemerkungen uber den sogenannten plotzlichen einendieser veranderugn. Klin Monatsbl Augenheilkd. 1906;44:228.

  5. Gilbert W. Vitiligo und Auge, ein Beitrag zur Kenntnis der herpetischen augeenerkran kunger. Klin Monatsbl Augenheilkd. 1910;48:24.

  6. Harada E. Clinical study of nonsuppurative choroiditis: A report of acute diffuse choroiditis. Acta Soc Opthalmol Jpn. 1926;30:356.

  7. Koyanagi Y. Dysakusis, Alopecia, und Poliosis beschwerer Uveitis nicht traumatischen Ursprunge. Klin Monatsbl Augenheilkd. 1929;82:194.

  8. Kodjikian L, Seve P, Le Hoang P, Garweg JG. Atypical Vogt-Koyanagi-Harada disease or new uveomeningitic syndrome?. Graefes Arch Clin Exp Ophthalmol. Mar 2005;243(3):263-5. [Medline].

  9. Du L, Yang P, Hou S, Lin X, Zhou H, Huang X, et al. Association of the CTLA-4 gene with Vogt-Koyanagi-Harada syndrome. Clin Immunol. Apr 2008;127(1):43-8. [Medline].

  10. Hoffman MD, Dudley C. Suspected Alezzandrini's syndrome in a diabetic patient with unilateral retinal detachment and ipsilateral vitiligo and poliosis. J Am Acad Dermatol. Mar 1992;26(3 Pt 2):496-7. [Medline].

  11. Shamsadini S, Meshkat MR, Mozzafarinia K. Bilateral retinal detachment in Alezzandrini's syndrome. Int J Dermatol. Dec 1994;33(12):885-6. [Medline].

  12. Lorincz AL. Disturbances of melanin pigmentation. In: Moschella SL, Hurley JH, eds. Dermatology. Philadelphia, Pa: WB Saunders; 1985.

  13. Huggins RH, Janusz CA, Schwartz RA. Vitiligo: a sign of systemic disease. Indian J Dermatol Venereol Leprol. Jan-Feb 2006;72(1):68-71. [Medline].

  14. Chee SP, Jap A, Bacsal K. Prognostic factors of Vogt-Koyanagi-Harada disease in Singapore. Am J Ophthalmol. Jan 2009;147(1):154-161.e1. [Medline].

  15. Cremona AC, Alezzandrini AA, Casala AM. [Vitiligo, poliosis and unilateral macular degeneration.]. Arch Oftalmol B Aires. May 1961;36:102-6. [Medline].

  16. Guo YL, Du Y, He JF. Correlation between sunset glow fundus and initial dosage of corticosteroid in patients with Vogt-Koyanagi-Harada disease. Am J Ophthalmol. May 2009;147(5):946; author reply 946-7. [Medline].

  17. Horie Y, Kitaichi N, Takemoto Y, Namba K, Yoshida K, Hirose S, et al. Polymorphism of IFN-gamma gene and Vogt-Koyanagi-Harada disease. Mol Vis. Dec 21 2007;13:2334-8. [Medline].

  18. Horie Y, Namba K, Kitaichi N, Ohno S. Sister cases of Behcet's disease and Vogt-Koyanagi-Harada disease. Br J Ophthalmol. Mar 2008;92(3):433-4. [Medline].

  19. Kawaguchi T, Yokota M, Sugita S, Mochizuki M. [Disc neovascularization in a patient with Vogt-Koyanagi-Harada disease and efficacy of steroid pulse therapy]. Nippon Ganka Gakkai Zasshi. Jan 2006;110(1):58-60. [Medline].

  20. Kjeka O, Krohn J. [Vogt-Koyanagi-Harada disease]. Tidsskr Nor Laegeforen. Aug 25 2005;125(16):2195-7. [Medline].

  21. Meng Q, Liu X, Yang P, Hou S, Du L, Zhou H, et al. PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome. Mol Vis. 2009;15:386-92. [Medline].

  22. Naughton GK, Eisinger M, Bystryn JC. Detection of antibodies to melanocytes in vitiligo by specific immunoprecipitation. J Invest Dermatol. Dec 1983;81(6):540-2. [Medline].

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Further Reading

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Keywords

Alezzandrini syndrome, vitiligo, poliosis, unilateral pigmentary retinitis, unilateral tapetoretinal degeneration of the eye, hypoacusis, nontraumatic uveitis, alopecia, acute diffuse choroiditis, idiopathic bilateral anterior uveitis, dysacusis, Vogt-Koyanagi-Harada syndrome, Alezzandrini's syndrome

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Contributor Information and Disclosures

Author

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Ewa Koziorynska, MD, Staff Physician, Department of Neurosciences, UMDNJ-New Jersey Medical School
Ewa Koziorynska, MD is a member of the following medical societies: Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Optigenex Consulting fee Independent contractor

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Catherine M Quirk, MD, Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania
Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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