Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis
Por:
Cordoba, Andrea, Graue-Hernandez, Enrique O., Navas, Alejandro, Chacon-Camacho, Oscar, Zenteno, Juan C., Ramirez-Miranda, Arturo, Bermudez-Magner J.A., Ordaz-Robles, Thania, Perez-Solorzano, Sofia, Olivo-Payne, Andrew
Publicada:
1 ene 2019
Categoría:
Medicine (miscellaneous)
Resumen:
BACKGROUND Encephalocraniocutaneous lipomatosis is a rare neurocutaneous disorder characterized by cutaneous, ocular, and central nervous system anomalies; its molecular etiology was recently identified. This report describes the surgical treatment and genetic characterization of a giant ocular lipodermoid cyst secondary to encephalocraniocutaneous lipomatosis. CASE REPORT An 11-year-old girl with past medical history of absence seizures presented with a reddish protruding mass in her right eye involving the temporal conjunctiva and the peripheral temporal cornea; eyelid closure was not possible due to mass protrusion. She also presented skin tags at the level of the external canthus and 3 alopecic areas at the level of the scalp compatible with nevus psiloliparus. No family history was reported. A dermoid cyst was suspected and excisional biopsy was performed under general anesthesia. A large conjunctival and lamellar corneoscleral resection was done, followed by a corneal tectonic graft. Molecular analysis was carried out, including PCR and Sanger sequencing on DNA obtained from the mass. After surgery, the patient achieved complete eyelid closure, reduction of ocular surface symptoms, and improved aesthetic appearance. Histological analysis confirmed a lipodermoid cyst; genetic tests confirmed a mosaic activating mutation in FGFR1 (c.1638C>A, p.Asn546Lys). The diagnosis was encephalocraniocutaneous lipomatosis. CONCLUSIONS ECCL is a rare condition; an accurate diagnosis comprising clinical and genetic aspects can facilitate the monitoring of possible complications, improve the multidisciplinary treatment, and provide valuable information for future therapy developments. In this case, the patient's quality of life improved significantly, ocular symptoms disappeared, and a good esthetic appearance was achieved.
Filiaciones:
Cordoba, Andrea:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Graue-Hernandez, Enrique O.:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Navas, Alejandro:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Chacon-Camacho, Oscar:
Department of Genetics, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Genet, Mexico City, DF, Mexico
Zenteno, Juan C.:
Department of Genetics, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Department of Biochemistry, Faculty of Medicine, National Autonomous University of MexicoMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Genet, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City, DF, Mexico
Ramirez-Miranda, Arturo:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Bermudez-Magner J.A.:
Department of Ocular Pathology, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Ordaz-Robles, Thania:
Department of Genetics, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Genet, Mexico City, DF, Mexico
Perez-Solorzano, Sofia:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Olivo-Payne, Andrew:
Department of Cornea and Refractive Surgery, Conde de Valenciana Institute of OphthalmologyMexico City, Mexico
Conde Valenciana Inst Ophthalmol, Dept Cornea & Refract Surg, Mexico City, DF, Mexico
Conde Valenciana Inst Ophthalmol, Dept Ocular Pathol, Mexico City, DF, Mexico
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