# Multiple Skin Adnexal Tumours with Possible Syndromic Association

## TL;DR

A woman in her fifties with multiple skin tumors was diagnosed with a possible CYLD cutaneous syndrome, a genetic condition linked to benign and malignant skin adnexal tumors.

## Contribution

The paper presents a clinical case highlighting the importance of considering syndromic associations in patients with multiple skin adnexal tumors.

## Key findings

- The patient had multiple skin adnexal tumors including eccrine spiradenoma, trichoepithelioma, and cylindroma.
- Histopathological analysis supported a possible syndromic association, prompting recommendation for CYLD gene testing.
- The tumors were located on the face, scalp, and upper back and showed progressive enlargement.

## Abstract

Brooke-Spiegler syndrome (BSS), multiple familial trichoepithelioma (MFT1) and familial cylindromatosis (FC) are autosomal dominant tumor syndromes that predispose individuals to multiple benign and malignant tumors, morphologically related to the adnexal structures of the skin. As allelic conditions caused by mutations in the CYLD gene, they are considered variants of a spectrum termed CYLD cutaneous syndrome (CCS). Patients commonly present with multiple adnexal tumors, such as cylindromas, trichoepitheliomas and spiradenomas, gradually increasing in size and number. Here, we report the case of a woman in her fifties who presented with an infected wound and multiple enlarging skin tumors over the face, scalp and upper back. Histopathological studies confirmed multiple skin adnexal tumors with features of eccrine spiradenoma, foci of trichoepithelioma and cylindroma areas. The patient underwent excision of the lesions with skin grafts and, given the possibility of syndromic association, was advised CYLD gene testing.