Harlequin and Horner syndromes with iris heterochromia in pediatrics: report of a congenital case

Harlequin syndrome is an uncommon disorder characterized by asymmetric sweating and flushing of the face and neck in response to sympathetic stimuli.This report describes a case of congenital origin associated with Horner syndrome and iris heterochromia emphasizing the rarity of this association.Male, 11 years old, presenting since birth with unilateral facial flushing when exposed to sympathetic stimuli.Physical examination revealed miosis, ptosis, enophthalmos, and iris heterochromia.After investigation, the diagnosis of Harlequin syndrome associated with Horner syndrome was confirmed.Harlequin syndrome is an autonomic disorder manifested by anhidrosis and pallor on one side of the face, with contralateral flushing and sweating in response to sympathetic stimuli.The congenital form is commonly related to other syndromes, and in such cases, treatment is conservative, with botulinum toxin considered a minimally invasive option.

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Publication Details

Journal
Portuguese Journal of Dermatology and Venereology
Published
2025-10-23
DOI
https://doi.org/10.24875/pjdv.25000035
Primary Topic
Sympathectomy and Hyperhidrosis Treatments
Type
article
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article

Harlequin and Horner syndromes with iris heterochromia in pediatrics: report of a congenital case

Luciana Mendes-dos Santos, Virgínia Vilasboas Figueiras, António Morais, Nuno A. Ribeiro et al.
Portuguese Journal of Dermatology and Venereology
Sympathectomy and Hyperhidrosis Treatments
article

Harlequin and Horner syndromes with iris heterochromia in pediatrics: report of a congenital case

Luciana Mendes-dos Santos, Virgínia Vilasboas Figueiras, António Morais, Nuno A. Ribeiro, Marcella Caldeira-Camisasca-Souza, Cláudio do C. Chaves-Filho
article en

Abstract

Harlequin syndrome is an uncommon disorder characterized by asymmetric sweating and flushing of the face and neck in response to sympathetic stimuli.This report describes a case of congenital origin associated with Horner syndrome and iris heterochromia emphasizing the rarity of this association.Male, 11 years old, presenting since birth with unilateral facial flushing when exposed to sympathetic stimuli.Physical examination revealed miosis, ptosis, enophthalmos, and iris heterochromia.After investigation, the diagnosis of Harlequin syndrome associated with Horner syndrome was confirmed.Harlequin syndrome is an autonomic disorder manifested by anhidrosis and pallor on one side of the face, with contralateral flushing and sweating in response to sympathetic stimuli.The congenital form is commonly related to other syndromes, and in such cases, treatment is conservative, with botulinum toxin considered a minimally invasive option.

Portuguese Journal of Dermatology and VenereologyVol. 83(4)
Openalex Percentile: Top 62%
Sympathectomy and Hyperhidrosis Treatments
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Harlequin and Horner syndromes with iris heterochromia in pediatrics: report of a congenital case — Luciana Mendes-dos Santos, Virgínia Vilasboas Figueiras, et al. · Portuguese Journal of Dermatology and Venereology (2025) | TGRS Research Map | TGRS