Autosomal dominant multiple syringomas linked to chromosome 16q22

Abstract

We confirmed that the condition of multiple syringomas is an autosomal dominant disorder, and we determined the genomic location of the responsible gene.

Syringoma of the vulva

“…The aetiology of vulvar syringoma is largely unknown, however it is hypothesized to be a proliferation of eccrine sweat gland ductal epithelium in response to an inflammatory reaction. Most of the cases are sporadic, however 16q22 chromosomal mutation leads to familial autosomal dominant syringoma [5]. They may occur in association with syndromes like Down syndrome, Marfan syndrome and Ehler-Danlos syndrome [6].…”

Familial Eruptive Syringomas: Case Report and Review of the Literature

“…Recently, Wu and Lee reported linkage of autosomal dominant multiple syringomas confined to the palpebral area to a locus on chromosome 16q22. 21 The genetic basis of eruptive syringomas is currently unknown. Future reports of this unusual condition may provide further insight into the etiology of eruptive syringomas, and it is hoped that genetic analysis of cases may enable the gene mutation to be determined.…”

Familial eruptive syringoma in a Nigerian girl

“…Localized familial syringoma is commonly observed on the periorbital areas. Inheritance is believed to be autosomal dominant, and the causative gene has been linked to chromosome 16q22 . Based on the available reviews, familial syringoma has no sex prevalence, develops more commonly during the pre‐adolescence or adolescence period, and mostly involves the face and trunk .…”

“…Inheritance is believed to be autosomal dominant, and the causative gene has been linked to chromosome 16q22. 4 Based on the available reviews, familial syringoma has no sex prevalence, develops more commonly during the pre-adolescence or adolescence period, and mostly involves the face and trunk. 5 The histological findings of syringomas typically include dilated, cystic eccrine ducts, shaped like a tadpole with characteristic comma-like tails, surrounded by collagen bundles in the dermis.…”