CYLD cutaneous syndrome (CCS) encompasses numerous inherited skin adnexal tumor syndromes, such Brooke–Spiegler Syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepitheliomas (MFT). These syndromes arise from germline pathogenic variants in the tumor suppressor gene CYLD that show variable expressivity. With merely 115 cases documented worldwide and a singular reported incidence among Filipinos, they are exceptionally rare. We present two cases of trichoepitheliomas in Filipino patients, encompassing their clinical, histopathological, and genetic findings.

Our first case is of a 22-year-old male presenting with an 8-year history of asymptomatic skin-colored papules on the nasolabial folds. He was initially diagnosed with milia and underwent electrocauterization; however, recurrence was observed shortly thereafter. No family history exhibited similar lesions.

The second case involves a 43-year-old female with a 31-year history of asymptomatic skin-colored papules on the nose that progressively disseminated to her forehead and ears that started to obstruct the patient’s airway, prompting her to seek consultation.

Genetic testing conducted on affected patients and their relatives identified mutations in the CYLD gene. The first case underwent CO2 laser treatment, while the second patient underwent excision with reconstructive surgery.

Given the rarity of these disorders and their diverse clinical manifestations, genetic testing serves as an invaluable instrument for the purpose of accurate diagnosis, proactive disease progression surveillance, and family planning efforts. This can also contribute to a more comprehensive understanding of the syndrome and the development of new therapeutic strategies.

Human ; Female ; Adult: 25-44 Yrs Old