Palpebral Syringomas and Down’s Syndrome

Abstract

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 as a 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.

An Updated Survey on Skin Conditions in Down Syndrome

“…2) have been reported in people with DS since the paper of Butterworth et al [11], who found a prevalence of 18.5% out of 200 subjects aged 10–52 years, with an increase in females (26%) versus males (13%). We [12]have already found palpebral syringomas in 14 out of 61 adults with DS, and all but 1 were females. This has been explained by us with a possible hormonal factor.…”

Autosomal dominant multiple syringomas linked to chromosome 16q22

“…3 The prevalence of multiple syringomas in the general population is uncertain, but a high prevalence (23%) has been reported in patients with Down syndrome. 4 Histopathologically, syringomas are characterized by epithelial aggregation of small, solid nests, cords and tubular structures with 'comma' or 'tadpole' features. The cause of the aberrant proliferation of sweat glands remains unknown.…”

Eruptive Syringomas with Calcium Deposits in a Young Woman with Down’s Syndrome

“…Our group reported the presence of syringomas in 42% of all the females with DS and in 55% among the adult females affected by DS [4]. …”

“…Syringomas on the eyelids have been reported as being much more frequent in people with Down’s syndrome (DS) than in the general population [3, 4]. …”