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  • Title: Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
    Author: Messaoud O, Ben Rekaya M, Kefi R, Chebel S, Boughammoura-Bouatay A, Bel Hadj Ali H, Gouider-Khouja N, Zili J, Frih-Ayed M, Mokhtar I, Abdelhak S, Zghal M.
    Journal: Br J Dermatol; 2010 Apr; 162(4):883-6. PubMed ID: 20199544.
    Abstract:
    Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
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