This document discusses vitiligo, the most common pigmentary disorder characterized by patchy loss of skin, hair, and oral mucosa pigment, affecting 0.1-2.0% of the population with a familial tendency. It highlights associations with various autoimmune diseases, particularly thyroid disorders and pernicious anemia, and details a study involving 2,546 patients revealing significant frequencies of these conditions among probands and their first-degree relatives. The document also covers the importance of periodic screening for other autoimmune diseases in vitiligo patients due to shared genetic susceptibility.

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

2.  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?

3. 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)

4.  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?

5.  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

8.  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

9.  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.

10. 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

11.  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

13.  113 vitiligo pts were tested for diseases
associated with polyglanduar autoimmune
syndrome (APS)
 58% generalized vitiligo
 38% acrofacial vitiligo
 3% segmental vitiligo

14. Betterle, Acta Bio Med 74:9, 2003

15.  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)

16. 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

17. (Anti-thyroid) (Anti-gastic)

19.  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

20. Clin Exp Dermatol 31,746,2006

21.  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

22.  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

23. 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.