Syringomas in a patient with Williams syndrome

Jorge Lindo, Department of Dermatology Unidade Local de Saúde de Coimbra, Coimbra, Portugal Mariana Pedroso, Department of Dermatology Unidade Local de Saúde de Coimbra, Coimbra, Portugal João L. Antunes, Department of Dermatology Unidade Local de Saúde de Coimbra, Coimbra, Portugal Teresa Lemos, Department of Dermatology Unidade Local de Saúde de Coimbra, Coimbra, Portugal Joana Calvão, Department of Dermatology Unidade Local de Saúde de Coimbra, Coimbra, Portugal

Syringomas are benign adnexal neoplasms with predominant ductal differentiation. They are often multiple, preferentially located in the periorbital region, and may be associated with genetic syndromes, such as Down syndrome. We report the case of a 24-year-old male patient with Williams syndrome (WS) who presented to the Dermatology Clinic with multiple asymptomatic,erythematous-yellowish, millimetric, monomorphic papules on the chest, with onset at 5 years of age. An incisional biopsyrevealed histopathological findings consistent with syringomas. Although syringomas are more commonly found on theperiorbital region, they may also occur in other locations, including the thoracic region. A potential association betweensyringomas and WS is not established, highlighting the need for further studies to investigate a link between specific geneticalterations and adnexal proliferation. This case underscores the importance of considering syringoma in the differentialdiagnosis of papular lesions on the trunk in patients with genetic syndromes and the need to explore potential dermatologicalmanifestations of WS.

Keywords: Syringoma. Adnexal neoplasms. Williams syndrome. Dermatology.