X-linked ichthyosis in southern Italy ★

Abstract

Few surveys on the frequency of X-linked ichthyosis (XLI) in large communities are available, and no study has been conducted in Italy. We report the frequency of X-linked ichthyosis in young men who enlisted as conscripts in the Italian navy. Prior to enlistment, all potential conscripts aged 18 years and living in the coastal regions of southern Italy are examined at the Draft Council's Medical Unit of the Italian Navy in Taranto. Subjects who show any pathologic condition are referred to our Navy Hospital. All the subjects referred to our department with an ichthyosiform condition underwent a thorough dermatologic examination and completed a questionnaire regarding their personal and familial history. From January 1998 through December 2000, 60,761 young men were examined at the Draft Council's Medical Unit. Twelve cases of X-linked ichthyosis were diagnosed, with a frequency of 1:5,063 or 1.9 per 10,000 (95% confidence interval based on the Poisson distribution 1.0-2.8). All the patients had a family history confirming the X-linked inheritance. Three of 12 cases (25%) involved corneal opacities. No other significant associated pathologic change was observed. In conclusion, the frequency of X-linked ichthyosis in southern Italy is roughly in agreement with estimates from other surveys, which range from 1:4,000 to 1:6,500.1Wells R.S. Kerr C.B. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population.Br Med J. 1966; 1: 947-950Crossref PubMed Scopus (161) Google Scholar, 2Ziprkowski L. Feinstein A. A survey of ichthyosis vulgaris in Israel.Br J Derm. 1972; 86: 1-8Crossref PubMed Scopus (29) Google Scholar, 3de Unamuno P. Martin-Pascual A. Garcia-Perez A. X-linked ichthyosis.Br J Dermatol. 1977; 97: 53-58Crossref PubMed Scopus (19) Google Scholar Corneal opacities have been regarded as a relevant clinical marker in the diagnosis of X-linked ichthyosis.4Costagliola C. Fabbrocini G. Illiano G.M. Scibelli C. Delfino M. Ocular findings in X-linked ichthyosis a survey on 38 cases.Ophthalmologica. 1991; 3: 152-155Crossref Scopus (37) Google Scholar We confirmed this finding, which was observed in about a quarter of our cases. X-linked ichthyosis has been associated with cryptorchidism;5Unamuno P. Martin C. Fernandez E. X-linked ichthyosis and cryptorchidism.Dermatologica. 1986; 172: 326-329Crossref PubMed Scopus (13) Google Scholar, 6Cuevas-Covarrubias S.A. Kofman-Alfaro S.H. Beirana Palencia A. Diaz-Zagoya J.C. Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris.J Dermatol. 1996; 23: 594-597PubMed Google Scholar however, none of our patients showed this pathologic change. Although we did not measure the steroid sulfatase (steryl-sulfatase) activity in our patients,6Cuevas-Covarrubias S.A. Kofman-Alfaro S.H. Beirana Palencia A. Diaz-Zagoya J.C. Accuracy of the clinical diagnosis of recessive X-linked ichthyosis vs ichthyosis vulgaris.J Dermatol. 1996; 23: 594-597PubMed Google Scholar, 7Yoshiike T. Matsui T. Ogawa H. Steroid sulphatase deficiency in patients initially diagnosed as ichthyosis vulgaris or recessive X-linked ichthyosis.Br J Dermatol. 1985; 112: 431-433Crossref PubMed Scopus (18) Google Scholar we believe the accuracy of physical examination, which involved a large male sample, homogeneous with reference to age, race, and country of origin, was such to yield sufficiently reliable data.