Syringomas in a patient with Williams syndrome

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.

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Publication Details

Journal
Portuguese Journal of Dermatology and Venereology
Published
2026-02-27
DOI
https://doi.org/10.24875/pjdv.25000104
Primary Topic
Williams Syndrome Research
Type
article
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article

Syringomas in a patient with Williams syndrome

Jorge Lindo, Mariana Pedroso, João L. Antunes, Teresa Lemos et al.
Portuguese Journal of Dermatology and Venereology
Williams Syndrome Research
article

Syringomas in a patient with Williams syndrome

Jorge Lindo, Mariana Pedroso, João L. Antunes, Teresa Lemos, Joana Calvão
article en

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.

Portuguese Journal of Dermatology and Venereology
Hospitais da Universidade de Coimbra (PT), University of Coimbra (PT)
Zero hunger
Openalex Percentile: Top 52%
Williams Syndrome Research
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