Palpebral syringomas and Down's syndrome.

BACKGROUND: Palpebral syringomas have been reported to be more frequent in patients with Down's syndrome than in the normal population.

OBJECTIVE: The aim of the present study was to evaluate, in a population of institutionalized patients with Down's syndrome, the prevalence of syringomas and their possible cytogenetic relationships.

METHODS: Sixty-one institutionalized patients with Down's syndrome were examined in order to assess the presence of palpebral syringomas. Sixty mentally retarded non-Down's syndrome individuals were used to control group.

RESULTS: Fourteen patients, 13 females and 1 male, were found to be affected. The prevalence of syringomas in both sexes was 23%; 42% of all females, and 55% when only adult females were considered, had syringomas. Thirteen of the 14 affected patients had a karyotype of Down's syndrome with free trisomy 21, 1 had a mosaicism 47,XX, +21/46,XX. Histologic examination confirmed the diagnosis in all 4 biopsied cases. A clear-cell pattern was observed only in 1 patient while, sporadically, few tubules showed a central syringial-type cuticula.

CONCLUSION: The higher prevalence found in females, as compared to males, can be partially explained by their older age (mean 23.8 vs. 13.9 years). Palpebral syringomas are a common cutaneous pathology in adult females with Down's syndrome.