Michael D. Tharp The Clark W. Finnerud, M.D. Professor and Chair Department of Dermatology Rush University Medical Center Chicago, Illinois, USA

Most common pigmentary disorder Patchy loss of pigment from the skin, hair

and oral mucosa Reported frequency 0.1-2.0% in various

populations Familial tendency with approximately 20%

of probands having at least one affected first degree relative

Autoimmune mediated?

Segmental Clinical Features Zosteriformis macules distributed

along a dermatome Non Segmental Clinical Features Localized or partial few scattered macules Acrofacialis macules localized to

face, distal hands and feet

Mucosal macules on mucous

membranes Generalized more widespread

macules (face, hands, feet, axillae, limbs)

Thyroid disease Diabetes mellitus Adrenal insufficiency Lupus erythematosus Alopecia areata Myasthenia gravis Pernicious anemia Rheumatoid arthritis Sarcoidosis Chronic active hepatitis Vogt–Koyanagi–Harada syndrome Psoriasis Lichen planus C2 and C4 deficiency APS, autoimmune polyglandular syndromes Skin cancer/melanoma?

A questionnaire was given to 2546 pts with vitiligo from the United Kingdom and U.S.

Vitiligo pt groups:

Vitiligo Society: UK

National Vitiligo Society: USA

A questionnaire was given to 2546 pts with vitiligo from the United Kingdom and U.S.

Approx 70% female

18% of first degree relatives had vitiligo

19.4% of probands had autoimmune thyroid disease (88% hypothyroidism and 12% hyperthyroidism)

5.7% of first degree relatives with autoimmune thyroid disease

1.9% had pernicious anemia 13 fold increase over the general population

0.38% with Addison’s disease 76 fold increase over the general population

8 fold increase in SLE 2 fold increase in Crohn’s disease No increase in:

alopecia areata diabetes mellitus multiple sclerosis myasthenia gravis psoriasis RA Scleroderma Sjogren’s synd.

CONCLUSIONS Vitiligo is associated with other autoimmune

disorders Thyroid disease and pernicious anemia were

frequent Addison’s dis, SLE and inflammatory bowel dis

uncommon The above disorders also increased in

probands’ first degree relatives: suggesting shared common susceptibility genes

204 with vitiligo (0.61%) were obtained from 33,252 medical records: 66% pts: localized vitiligo

15% with generalized vitiligo

13% with acromucosal vitiligo

6% with segmental vitiligo

Autoimmune disorders were found in 6

(2.9%) of patients

113 vitiligo pts were tested for diseases associated with polyglanduar autoimmune syndrome (APS)

58% generalized vitiligo 38% acrofacial vitiligo 3% segmental vitiligo

Betterle, Acta Bio Med 74:9, 2003

22 pts: APS-3C (thyroid and vitiligo) 3 pts: APS-3B+C (thyroid, vitiligo and

autoimmune gastritis) 1 pt: APS-3C+A (thyroid, vitiligo, alopecia

areata and anti-adrenal gland abs, + ANA 5 pts: APS-4(vitiligo, myasthenia gravis,

bullous pemphigoid, alopecia, autoimmune gastritis, +ANA)

Vitiligo APS APS APS APS Type 3C 3B+C 4 3C+A

Generalized 11 3 3 1 Acrofacial 10 0 2 0 Segmental 1 0 0 0

(Anti-thyroid) (Anti-gastic)

22/113 pts with vitiligo had 3 or more autoimmune disorders (APS)

Thyroid disease was common (39%)

Addison’s disease rare (1/113) but higher frequency than the reported general population

ANA positivity was seen in 3% of pts which is typical for the general population

Recommend periodic screening of vitiligo pts for other autoimmune diseases

Clin Exp Dermatol 31,746,2006

156 pts with vitiligo underwent an eye exam 40% had some fundal abnormality Transillumination of the iris

Whites 23%

Blacks 5%

Fundiscopic findings

Focal pigment hypertrophy (18%)

Hypopigmented spots (9%)

Retinal scars (6%)

Chorodial nevi (4%)

Uveitis (1%): inflammation rarely seen

Uveitis has been reported to be another ocular abnormality associated with vitiligo

Vogt-Koyanagi_Harada syndrome (3 phases) Meningocephalic phase ( headache, meningismus, seizures and/or

muscle weakness or paralysis) preceded by fever, nausea/vomiting : aspectic meningitis

Acute ophthalmic phase (eye pain, photophobia, altered visual acuity): uveitis, iriditis, retinal detachment

Otic involvement (dysacousia) Poliosis Vitiligo

Alezzandrini syndrome

Whitening of the hair, eyebrows and eyelashes Unilateral depigmentation of the skin on the forehead, nose, cheek,

upper lip and chin along with decreased visual acuity and atropic iris

Non-inflammatory depigmented lesions in the fundus seen in vitiligo

Thyroid disease Diabetes mellitus Adrenal insufficiency Lupus erythematosus Alopecia areata Myasthenia gravis Pernicious anemia Rheumatoid arthritis Sarcoidosis Chronic active hepatitis Vogt–Koyanagi–Harada syndrome Psoriasis Lichen planus C2 and C4 deficiency APS, autoimmune polyglandular syndromes.