Focus
Malattie cutanee autoimmuni e genoma
VALENTINA LEONE, FRANCO PANIZON
Clinica Pediatrica, IRCCS “Burlo Garofolo”, Universitŕ di Trieste
Aprile 2003 - pagg. 235 -241
Abstract
Some auto-immune skin diseases are heritable. The most common among these is psoriasis,
which has an incidence of 15% if one parent is affected and of 50% if both parents are
affected. Six loci (PSORS 1 to 6) are involved, and the main one (PSORS 1) shares the region
with the major histocompatibility locus. The risk of inheriting vitiligo is 12% if one sibling
is affected and 36% if one parent is affected. The paediatric form of vitiligo is associated
with DR5 and DQW3 while the adult form with DR7 and DQW2. Genetic heredity
of alopecia varies from 10 to 20% for patients with a positive family history. Alleles HLA
DQB1*03 (301, 302, 303) are present in 80% of patients with alopecia areata and in
92% of patients with universal alopecia. Only 3.5% of patients affected by cutaneous lupus
has a positive family history. The genes responsible of generic auto-immunity such as the
CTLA4 are involved in all these four skin diseases.
Parole chiave
Classificazione MeSH
Bibliografia
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2. Watson W, Cann HM, Farber EM, et al. The genetics of psoriasis. Arch Dermatol 1972; 105:197-207.
3. Christophers E, Mrowietz U. Psoriasis. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 495- 521.
4. Barker JN. Genetic aspects of psoriasis. Clin Exp Dermatol 2001;26(4):321-5.
5. Duvic M. Influence of the HLA system on disease susceptibility. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 370-8.
6. Elder JT, Nair RP, Henseler T, et al. The genetics of psoriasis 2001. Arch Dermatol 2001; 137:1447-54.
7. Trembath RC, Clough RL, Rosbotham JL, et al. Identification of a major susceptibility gene on locus chromosome 6p and evidence for further disease loci revealed by a two stage genome- wide search in psoriasis. Hum Mol Genet 1997;6:813-20.
8. Dobson RL. The inheritance of psoriasis. Arch Dermatol 1980;116:657.
9. Goldsmith LA, Epstein EH. Genetics in relation to the skin. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 59-69.
10. Majumder PP, Nordlund JJ, Nath SK. Pattern of familial aggregation of vitiligo. Arch Dermatol 1993;129:994-8.
11. Mosher DB, Fitzpatrick TB, Ortonne JP, Hori Y. Hypomelanoses and hypermelanoses. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 949-60.
12. Finco O, Cuccia M, Martinetti M, et al. Age of onset in vitiligo: relationship with HLA supratypes. Clin Genet 1991;39:48-54.
13. Majumder PP, Das SK, Li CC. A genetic model for vitiligo. Am J Hum Genet 1988;43: 119-25.
14. Nath SK, Majumder PP, Nordlund JJ. Genetic epidemiology of vitiligo: multilocus recessivity cross-validated. Am J Hum Genet 1994;55:981-90.
15. Darmastadt GL. Alopecia areata. In: Behrman RT, Kliegman RM, Jenson HB. Nelson Texbook of Pediatrics. 16th ed. Philadelphia: WB Saunders Company, 2000:2022.
16. Welsh EA, Clark HH, Epstein SZ, et al. Human leukocyte antigen-DQB1*03 alleles are associated with alopecia areata. J Invest Dermatol 1994;101(6):758-63.
17. Millard TP, McGregor JM. Molecular genetics of cutaneous lupus erythematosus. Clin Exp Dermatol 2001;26(2):184-91.
18. Watson RM, Talwar P, Alexander E, et al. Subacute cutaneous lupus erythematosus-immunogenetic associations. J Autoimmun 1991; 4:73-85.
19. Kristiansen OP, Larsen ZM, Pociot F. CTLA4 in autoimmune diseases a general susceptibility gene to autoimmunity? Genes Immun 2000;1(3):170-84.
2. Watson W, Cann HM, Farber EM, et al. The genetics of psoriasis. Arch Dermatol 1972; 105:197-207.
3. Christophers E, Mrowietz U. Psoriasis. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 495- 521.
4. Barker JN. Genetic aspects of psoriasis. Clin Exp Dermatol 2001;26(4):321-5.
5. Duvic M. Influence of the HLA system on disease susceptibility. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 370-8.
6. Elder JT, Nair RP, Henseler T, et al. The genetics of psoriasis 2001. Arch Dermatol 2001; 137:1447-54.
7. Trembath RC, Clough RL, Rosbotham JL, et al. Identification of a major susceptibility gene on locus chromosome 6p and evidence for further disease loci revealed by a two stage genome- wide search in psoriasis. Hum Mol Genet 1997;6:813-20.
8. Dobson RL. The inheritance of psoriasis. Arch Dermatol 1980;116:657.
9. Goldsmith LA, Epstein EH. Genetics in relation to the skin. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 59-69.
10. Majumder PP, Nordlund JJ, Nath SK. Pattern of familial aggregation of vitiligo. Arch Dermatol 1993;129:994-8.
11. Mosher DB, Fitzpatrick TB, Ortonne JP, Hori Y. Hypomelanoses and hypermelanoses. In: Fitzpatrick’s. Dermatology in general medicine. 5th ed. New York: Mc Graw Hill, 1999: 949-60.
12. Finco O, Cuccia M, Martinetti M, et al. Age of onset in vitiligo: relationship with HLA supratypes. Clin Genet 1991;39:48-54.
13. Majumder PP, Das SK, Li CC. A genetic model for vitiligo. Am J Hum Genet 1988;43: 119-25.
14. Nath SK, Majumder PP, Nordlund JJ. Genetic epidemiology of vitiligo: multilocus recessivity cross-validated. Am J Hum Genet 1994;55:981-90.
15. Darmastadt GL. Alopecia areata. In: Behrman RT, Kliegman RM, Jenson HB. Nelson Texbook of Pediatrics. 16th ed. Philadelphia: WB Saunders Company, 2000:2022.
16. Welsh EA, Clark HH, Epstein SZ, et al. Human leukocyte antigen-DQB1*03 alleles are associated with alopecia areata. J Invest Dermatol 1994;101(6):758-63.
17. Millard TP, McGregor JM. Molecular genetics of cutaneous lupus erythematosus. Clin Exp Dermatol 2001;26(2):184-91.
18. Watson RM, Talwar P, Alexander E, et al. Subacute cutaneous lupus erythematosus-immunogenetic associations. J Autoimmun 1991; 4:73-85.
19. Kristiansen OP, Larsen ZM, Pociot F. CTLA4 in autoimmune diseases a general susceptibility gene to autoimmunity? Genes Immun 2000;1(3):170-84.