Aprile 2003 - Volume XXII - numero 4

Medico e Bambino


Malattie cutanee autoimmuni e genoma


Clinica Pediatrica, IRCCS “Burlo Garofolo”, Università di Trieste

Key words: Autoimmune diseases, Skin diseases, Psoriasis, Vitiligo, Genetics

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.

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V. Leone, F. Panizon. Malattie cutanee autoimmuni e genoma. Medico e Bambino 2003;22(4):235-241 https://www.medicoebambino.com/?id=0304_235.pdf

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