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Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.

ABSTRACT: 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.

SUBMITTER: Cordoba A

PROVIDER: S-EPMC6824416 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Project description:IntroductionPericardial cysts are considered as a rare congenital abnormality, mostly found incidentally. The estimated incidence of pericardial cyst is 1:100,000 and represent approximately 6% of all mediastinal masses. Patients can present with symptoms similar to acute chest pain or right-sided heart failure or can be asymptomatic.PresentationA 46-year-old female who is known to have hypertension and hypothyroidism presented to the breast clinic with left breast mass that was proved by core needle biopsy as proliferative breast lesion. During the preoperative assessment, the patient reported progressive shortness of breath and cough over the last two years and bilateral lower limb edema. Her preoperative chest X-ray showed a well-defined oval like opacification at the right cardiophrenic angle that was proved by chest computed tomography imaging as a cystic mass od most likely a pericardial origin. A huge pericardial cyst originating from the right diaphragmatic surface was excised through a mini-sternotomy incision with smooth postoperative recovery. The patient-reported significant improvement in her symptoms and her lifestyle during her follow up.DiscussionPericardial cysts represent 6%-7% of all mediastinal masses with an estimated incidence of 1:100,000. About 70% of pericardial cysts originate at the right cardiophrenic angle and less frequently at the left cardiophrenic angle, they are usually suspected when the chest x-ray shows an enlarged contour of the right heart border. Mediastinal cysts have many differential diagnoses and the preoperative decision might be challenging in many cases. Pericardial cysts appear as oval, thin-walled homogeneous masses on cardiac computed tomography. The choice between surgical intervention and conservative follow up is related mainly to the size and symptoms that are induced by the cyst.ConclusionAs pericardial cysts are rarely diagnosed pathology, a high index of suspicion is essential for diagnosis. Surgical resection is indicated when they are huge, enlarging in size or symptomatic. Morbidity and mortality risks following pericardial cyst excision are very low.

Project description:Background:Burn-related injury to the face involving the structures of the eyes, eyelids, eyelashes, and/or eyebrows could result in multiple reconstructive procedures to improve functional and cosmetic outcomes, and correct complications following poor acute phase management. The objective of this article was to evaluate if non-surgical or surgical interventions are best for acute management of ocular and/or peri-ocular burns. Methods:This systematic review and meta-analysis compared 272 surgical to 535 non-surgical interventions within 1 month of patients suffering burn-related injuries to 465 eyes, 253 eyelids, 90 eyelashes, and 0 eyebrows and evaluated associated outcomes and complications. The PubMed, Embase, Cochrane Library, Web of Science, and Scopus databases were systematically and independently searched. Patient and clinical characteristics, surgical and medical interventions, outcomes, and complications were recorded. Results:Eight of the 14,927 studies queried for this study were eligible for the systematic review and meta-analysis, with results from 33 of the possible 58 outcomes and complications using Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) and Cochrane guidelines. Surgery was associated with standard mean differences (SMD) 0.44 greater visual acuity on follow-up, SMD 1.63 mm shorter epithelial defect diameters on follow-up, SMD 1.55 mm greater changes in epithelial diameters from baseline, SMD 1.17 mm2 smaller epithelial defect areas on follow-up, SMD 1.37 mm2 greater changes in epithelial defect areas from baseline, risk ratios (RR) 1.22 greater numbers of healed epithelial defects, RR 11.17 more keratitis infections, and a 2.2 greater reduction in limbal ischemia compared to no surgical intervention. Conclusions:This systematic review and meta-analysis found that compared to non-surgical interventions, acute surgical interventions for ocular, eyelid, and/or eyelash burns were found to have greater visual acuity on follow-up, shorter epithelial defect diameters on follow-up, greater changes in epithelial diameters from baseline, smaller epithelial defect areas on follow-up, greater changes in epithelial defect areas from baseline, greater numbers of healed epithelial defects, more keratitis infections, and a greater reduction in limbal ischemia, possibility preventing the need of a future limbal stem cell transplantation.

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Giant Ocular Lipodermoid Cyst in Encephalocraniocutaneous Lipomatosis: Surgical Treatment and Genetic Analysis.

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