Hallazgos durante mastoidectomía y canaloplastia en adolescente con historia de síndrome de Proteus asociado con síndrome de Klippel-Trénaunay-Weber

Abstract

Proteus syndrome is a rare, rapidly progressive condition that occurs in infancy, related to mutation in the AKT1 gene causing irregular and excessive development of the skin, adipose tissue, central nervous system, blood vessels and lymphatics. Klippel-Trenaunay-Weber Syndrome are capillary and venous malformations and presence of abnormal growth in the extremities, affecting or not lymphatic malformations, is caused by mutations in the PIK3CA gene. The aim of the present work is to Proteus and Klippel Trenaunay- Weber síndromes, canaloplasty and mastoidectomy: Clinical case report. We present a 14-year-old female patient with a history of Proteus plus Klippel-Trenaunay-Weber Syndrome. One year ago she presented cysts in the left ear, causing otalgia and otic suppuration; she was evaluated by the otorhinolaryngology service and diagnosed with cholesteatoma of the external auditory canal, middle auditory canal and mastoid cells on the left side. A mastoidectomy plus canaloplasty of the left ear was performed. During his hospital stay, he remained hemodynamically stable, afebrile, without the need for supplemental oxygen, and underwent antibiotic therapy based on cefazolin. After evaluation, medical discharge was decided on the third day and she was sent for follow-up. Finally, Proteus and Klippel Trenaunay Syndrome are extremely rare congenital disorders, caused by genomic mutations, which manifest themselves as abnormal tissue growth, causing malformations. Their treatment is surgical and depends on the affected area.