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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Congenital ectropion in Noonan syndrome
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Vol. 99. Issue 4.
Pages 169-172 (April 2024)
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Vol. 99. Issue 4.
Pages 169-172 (April 2024)
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Congenital ectropion in Noonan syndrome
Ectropión congénito en síndrome de Noonan
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M. Dorronsoro
Corresponding author
marianeladorronsoro@gmail.com

Corresponding author.
, M. Bertino, J.M. Suarez, G.J. Morocho, S.J. Vivante, J.P. Aldecoa
Sección de Oculoplástica, Hospital Central de San Isidro (HCSI) “Dr. Melchor Ángel Posse”, Buenos Aires, Argentina
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Table 1. Clinical diagnostic criteria.
Abstract

Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell’s phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome.

Noonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty.

Keywords:
Noonan syndrome
Ectropion
Euryblepharon
Lagophthalmos
Oculoplastic
Resumen

Niña de 10 años, con dismorfia facial, escoliosis, baja talla, hipotonía muscular, foramen oval permeable y retraso madurativo, concurre para corrección de ectropión congénito bilateral. Al examen oftalmológico se constató ectropión palpebral inferior, euribléfaron y lagoftalmos bilaterales, con fenómeno de Bell positivo. Se realizó injertos cutáneos autólogos de espesor completo en párpados inferiores con cantoplastia lateral bilateral, resolviendo el ectropión y mejorando la oclusión palpebral. Posteriormente, se hizo un estudio genético que reveló una mutación en el gen PTPN11 y permitió, junto a la clínica, hacer el diagnóstico de síndrome de Noonan.

El síndrome de Noonan es un trastorno genético multisistémico con una gran variedad de fenotipos, que suele cursar con alteraciones oculares y perioculares. El ectropión palpebral, característica distintiva de esta paciente, es una manifestación oftalmológica infrecuente de este síndrome que puede corregirse con injerto cutáneo de espesor completo y cantoplastia lateral.

Palabras clave:
Síndrome de Noonan
Ectropión
Euribléfaron
Lagoftalmos
Oculoplástica

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