A Simple Orbital Lymphatic Malformation Clinically Mimics Primary Conjunctival Cyst

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Introduction

A simple orbital lymphatic malformation usually presents with acute proptosis with ophthalmoplegia after an upper respiratory tract infection. Various treatments have been described but the lesions often recur after treatment due to their infiltrative nature.

Case Presentations

A 6-year-old girl presented with a 5 × 10 mm translucent mass in the left inferior fornix for 3 years but she denied diplopia and visual disturbance. Orbital computed tomography with contrast emphasized the clinical findings, a nonseptated cystic lesion without enhancement in the anterior orbit. The lesion was surgically totally excised. Histopathological findings revealed an endothelial lining cyst without intraluminal cells consistent with a lymphatic malformation. In a 1-year follow-up, the lesion does not recur.

Conclusion

The simple orbital lymphatic malformation can present as a single nonseptate cystic lesion. Pathological study should be done for the definitive diagnosis. Surgical excision can achieve a favorable outcome.

Related collections

Most cited references 22

Record: found
Abstract: found
Article: not found

Lymphatic malformations: diagnosis and management.

Ravindhra G Elluru, Karthik Balakrishnan, Horacio M Padua (2014)

Lymphatic malformations are benign vascular lesions that arise from embryological disturbances in the development of the lymphatic system. They encompass a wide spectrum of related abnormalities, including cystic lymphatic lesions, angiokeratoma, lymphatic malformations that occur in bones (Gorham-Stout Syndrome), lymphatic and chylous leak conditions, and lymphedema. This article will focus only on lymphatic malformation mass lesions, whereas other related disease entities will be covered elsewhere in this journal issue. Lymphatic malformations occur frequently in lymphatic-rich areas such as the head and neck region, but they can also be found on any anatomical site in the body. In general, lymphatic malformations are categorized into macrocystic, microcystic, or combined depending on the size of the cysts contained within the lesion. Lymphatic malformations can cause both deformation of the anatomical site involved and functional deficits. The goal of this article is to discuss the etiology, epidemiology, treatment modalities, and comorbidities associated with lymphatic malformations.

0 comments Cited 57 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.

Elisa Boscolo, Silvia Coma, Valerie L Luks … (2015)

Lymphatic malformations (LM) are characterized by abnormal formation of lymphatic vessels and tissue overgrowth. The lymphatic vessels present in LM lesions may become blocked and enlarged as lymphatic fluid collects, forming a mass or cyst. Lesions are typically diagnosed during childhood and are often disfiguring and life threatening. Available treatments consist of sclerotherapy, surgical removal and therapies to diminish complications. We isolated lymphatic endothelial cells (LM-LEC) from a surgically removed microcystic LM lesion. LM-LEC and normal human dermal-LEC (HD-LEC) expressed endothelial (CD31, VE-Cadherin) as well as lymphatic endothelial (Podoplanin, PROX1, LYVE1)-specific markers. Targeted gene sequencing analysis in patient-derived LM-LEC revealed the presence of two mutations in class I phosphoinositide 3-kinases (PI3K) genes. One is an inherited, premature stop codon in the PI3K regulatory subunit PIK3R3. The second is a somatic missense mutation in the PI3K catalytic subunit PIK3CA; this mutation has been found in association with overgrowth syndromes and cancer growth. LM-LEC exhibited angiogenic properties: both cellular proliferation and sprouting in collagen were significantly increased compared with HD-LEC. AKT-Thr308 was constitutively hyper-phosphorylated in LM-LEC. Treatment of LM-LEC with PI3-Kinase inhibitors Wortmannin and LY294 decreased cellular proliferation and prevented the phosphorylation of AKT-Thr308 in both HD-LEC and LM-LEC. Treatment with the mTOR inhibitor rapamycin also diminished cellular proliferation, sprouting and AKT phosphorylation, but only in LM-LEC. Our results implicate disrupted PI3K-AKT signaling in LEC isolated from a human lymphatic malformation lesion.

0 comments Cited 52 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Orbital cysts of childhood--classification, clinical features, and management.

Jerry Shields, Carol L. Shields (2015)

There is little in the literature about the clinical spectrum of orbital cysts of childhood and no comprehensive classification has been proposed. The authors propose a classification of orbital cysts of childhood and review their clinical features, pathology, and management. The major categories in the classification include cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival). Epidermal dermoid cyst (dermoid) is by far the most common orbital cystic lesion in children, accounting for over 40% of all orbital lesions of childhood and for 89% of all orbital cystic lesions of childhood that come to biopsy or surgical removal. Neural cysts include those associated with ocular maldevelopment (congenital cystic eye and colobomatous cyst) and those associated with brain and meningeal tissue (cephalocele and optic nerve meningocele). The most important secondary cyst is mucocele that can occur in children with cystic fibrosis. Inflammatory cysts are generally due to parasitic infestations and are more common in tropical areas of the world. Noncystic lesions that can have a cystic component include adenoid cystic carcinoma, rhabdomyosarcoma, lymphangioma, and others. Each type of cyst has rather characteristic, but not pathognomonic, clinical features. Computed tomography and magnetic resonance imaging can help differentiate a cystic lesion from a solid tumor, suggest the type of cyst, and help in planning management. The pathology varies with the cells that line the cyst and with the inflammatory agent. Management varies from local excision to observation, depending on the location and type of cyst. Orbital cysts of childhood can be classified into categories, based mainly on their histopathology. The clinical, radiologic, and histopathologic features can be correlated with the classification in order to better evaluate a child with a cystic lesion in the orbit.

0 comments Cited 44 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): Case Rep Ophthalmol

Journal ID (iso-abbrev): Case Rep Ophthalmol

Journal ID (hwp): COP

Journal ID (publisher-id): COP

Title: Case Reports in Ophthalmology

Publisher: S. Karger AG (Basel, Switzerland )

ISSN (Electronic): 1663-2699

Publication date (Electronic): 25 July 2024

Publication date Collection: Jan-Dec 2024

Publication date PMC-release: 25 July 2024

Volume: 15

Issue: 1

Pages: 577-584

Affiliations

[1]Department of Ophthalmology, Faculty of Medicine, Burapha University, Chon Buri, Thailand

Author notes

Correspondence to: Sasikant Leelawongs, leesasikant@ 123456gmail.com

Article

Publisher ID: 540126

DOI: 10.1159/000540126

PMC ID: 11324261

PubMed ID: 39144647

SO-VID: 33909b9a-a7bf-4a75-a254-71c1f9f20527

License:

This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ( http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.

History

Date received : 31 January 2024

Date accepted : 30 June 2024

Date: 2024

Page count

Figures: 5, References: 21, Pages: 8

Funding

This study was not supported by any sponsor or funder.

Are you tired of sifting through news that doesn't interest you?
Personalize your Karger newsletter today and get only the news that matters to you!

Sign up