Syringomas in a patient with Williams syndrome

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Authors: Joana Calvão, João L. Antunes, Jorge Lindo, Mariana Pedroso, Teresa Lemos
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Abstract

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 biopsy revealed histopathological findings consistent with syringomas.Although syringomas are more commonly found on the periorbital region, they may also occur in other locations, including the thoracic region.A potential association between syringomas and WS is not established, highlighting the need for further studies to investigate a link between specific genetic alterations and adnexal proliferation.This case underscores the importance of considering syringoma in the differential diagnosis of papular lesions on the trunk in patients with genetic syndromes and the need to explore potential dermatological manifestations of WS.

Fields of Study & Subjects

Cancer and Skin Lesions Williams Syndrome Research Genetic and rare skin diseases.

Publication details

Journal / source
Portuguese Journal of Dermatology and Venereology
Volume
84
Issue
3
Publication date
27 February 2026
Language
EN