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Acta Neuropathologica Communications Mar 2020Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this... (Review)
Review
Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of LEAT occur in the temporal lobe; (B): the vast majority of LEAT are of low malignancy and classified as WHO I°; (C): LEAT are often composed of mixed glial and neuronal cell components and present with variable growth patterns including small cysts or nodules; (D): LEAT do not share common gene driving mutations, such as IDH1 or 1p/19q co-deletions. Characteristic entities comprise the ganglioglioma (GG), the dysembryoplastic neuroepithelial tumor (DNT), the angiocentric glioma (AG), the isomorphic diffuse glioma (IDG) and the papillary glio-neuronal tumor (PGNT), representing 73.2% of 1680 tumors collected in a large German series of 6747 patients submitted to epilepsy surgery. In the realm of exciting discoveries of genetic drivers of brain tumors new genes have been also reported for LEAT. BRAF V600E mutations were linked to GG with CD34 expression, FGFR1 mutations to DNT, MYB alterations to AG and also IDG and PRKCA fusions to PGNT, suggesting the possibility to also develop a genetically driven tumor classification scheme for LEAT. Rare availability of LEAT in a single center is a challenging obstacle, however, to systematically unravel the neurobiological nature and clinical behavior of LEAT. Other challenges in need of clarification include malignant tumor progression of LEAT entities, seizure relapse in patients following bulk tumor resection and the controversial issue of associated focal cortical dysplasia as additional pathomechanism. In order to advance our understanding and promote reliable diagnostic work-up of LEAT, we recommend, therefore, international collaboration to achieve our goals.
Topics: Arachnoid Cysts; Astrocytoma; Brain Neoplasms; Central Nervous System Cysts; Dermoid Cyst; Epidermal Cyst; Epilepsies, Partial; Ganglioglioma; Humans; Molecular Diagnostic Techniques; Neoplasm Grading; Neoplasms, Neuroepithelial; Oligodendroglioma; Protein Kinase C-alpha; Proto-Oncogene Proteins; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins c-myb; Receptor, Fibroblast Growth Factor, Type 1; Trans-Activators
PubMed: 32151273
DOI: 10.1186/s40478-020-00904-x -
Ultrasound in Obstetrics & Gynecology :... Oct 2022To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs). (Review)
Review
OBJECTIVE
To describe the clinical and ultrasound features of ovarian mature cystic teratomas (MCTs).
METHODS
This was a retrospective study. From the International Ovarian Tumor Analysis (IOTA) database, we identified patients with a histologically confirmed diagnosis of MCT who had undergone transvaginal ultrasound examination between 1999 and 2016 (IOTA phases 1, 2, 3 and 5) in one of five centers. Ultrasound was performed by an experienced examiner who used the standardized IOTA examination technique and terminology. In addition to extracting data from the IOTA database, available two-dimensional grayscale and color or power Doppler images were reviewed retrospectively to identify typical ultrasound features of MCT described previously and detect possible new features using pattern recognition. All images were reviewed by two independent examiners and further discussed with two ultrasound experts to reach consensus.
RESULTS
Included in the study were 454 patients with histologically confirmed MCT. Median age was 33 (range, 8-90) years and 66 (14.5%) patients were postmenopausal. Most MCTs were described by the original ultrasound examiner as unilocular (262/454 (57.7%)) or multilocular (70/454 (15.4%)) cysts with mixed echogenicity of cystic fluid (368/454 (81.1%)), acoustic shadowing (328/454 (72.2%)) and no or little vascularization on color Doppler (color score 1, 240/454 (52.9%); color score 2, 123/454 (27.1%)). The median largest lesion diameter was 66 (range, 15-310) mm. A correct preoperative diagnosis of MCT was suggested by the original ultrasound examiner in 372/454 (81.9%) cases. On retrospective review of ultrasound images of 334 MCTs that had quality sufficient for assessment, 'dots and/or lines' and/or 'echogenic white ball' (typical features according to the literature) were present in 271/334 (81.1%) masses. We identified four new ultrasound features characteristic of MCT: 'cotton wool tufts', 'mushroom cap sign', 'completely hyperechogenic lesion' and 'starry sky sign'. At least one classical or novel ultrasound feature was present in 315/334 (94.3%) MCTs. Twenty-nine (8.7%) MCTs manifested vascularized solid tissue, of which seven exhibited no typical features.
CONCLUSION
We provide a comprehensive overview of conventional and newly described ultrasound features of MCTs. Only a small proportion of MCTs did not manifest any of the typical features. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Adult; Female; Genital Diseases, Female; Humans; Ovarian Neoplasms; Pregnancy; Retrospective Studies; Teratoma; Ultrasonography; Ultrasonography, Doppler, Color
PubMed: 35316568
DOI: 10.1002/uog.24904 -
Indian Journal of Ophthalmology Feb 2022Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion...
BACKGROUND
Dermoid cyst, a developmental benign choristoma, is the most common orbital tumor of childhood, arising from ectodermal sequestration along the lines of embryonic fusion of mesodermal processes, lined by keratinized stratified squamous epithelium and expanding slowly due to constant desquamation and dermal glandular elements. Approximately 80% are found in the head and neck region and comprise 3-9% all orbital masses.
PURPOSE
It is mandatory to know about the variable presentations of orbital dermoids and the surgical techniques that can be adopted based on the site, extent, age and aesthetic needs, presence of inflammation and possibility of intraoperative rupture.
SYNOPSIS
Orbital dermoids can be classified as juxta-sutural, sutural or soft tissue cysts; superficial or deep; intraosseous or extraosseous, and intraorbital or extraorbital. These smooth, painless, mobile or partially mobile lesions mostly present at the fronto-zygomatic suture with proptosis, displacement, ptosis or diplopia, depending on depth and extent. Therefore, it is important to understand the various presentations and the appropriate surgical techniques.
HIGHLIGHTS
We describe the embryological origin, types and clinical features of dermoids in this video and demonstrate the surgical and minimally invasive techniques for their management.
VIDEO LINK
https://youtu.be/-q3xD2igjcQ.
Topics: Blepharoptosis; Choristoma; Dermoid Cyst; Humans; Orbital Diseases; Orbital Neoplasms
PubMed: 35086291
DOI: 10.4103/ijo.IJO_145_22 -
The Journal of International Advanced... Dec 2020A case of mastoid dermoid cyst (DC) was presented, and differences with cases of other temporal bone DCs were analyzed. The mastoid DC was also compared with mastoid... (Review)
Review
A case of mastoid dermoid cyst (DC) was presented, and differences with cases of other temporal bone DCs were analyzed. The mastoid DC was also compared with mastoid congenital cholesteatoma. We reported a case of a patient with mastoid DC, evaluating her clinical, radiological, and surgical findings. A review of the literature was performed to compare our findings with those reported. The preoperative radiological evaluation prompted us to plan a surgical approach to the lesion, suspecting the presence of a mastoid congenital cholesteatoma. The surgical findings were in line with the presence of a mastoid DC. Only two cases reported in the literature presented features that fulfilled the criteria of a true mastoid DC. A DC confined to the mastoid region is an extremely rare clinical entity, with asymptomatic and slow growth. Preoperative radiological differentiation between congenital cholesteatoma and DCs with atypical features can be difficult. However, surgical excision is the treatment of choice in both cases. Diagnosis is confirmed by the histological evaluation.
Topics: Cholesteatoma, Middle Ear; Dermoid Cyst; Female; Humans; Magnetic Resonance Imaging; Mastoid; Middle Aged
PubMed: 33136032
DOI: 10.5152/iao.2020.7854 -
Ear, Nose, & Throat Journal Mar 2024Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood.... (Review)
Review
Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood. Pilomatrixomas are typically isolated, slow-growing, firm, nontender masses that are adherent to the epidermis but mobile in the subcutaneous plane. This clinical presentation is so characteristic that many experienced surgeons will excise suspected pilomatrixomas without prior imaging. We reviewed the results of this approach to determine whether physical examination alone differentiates pilomatrixomas from other similar soft tissue lesions of the pediatric head and neck. Computerized review of all pilomatrixomas over a 20-year period in a single academic pediatric otolaryngology practice. 18 patients presented to our pediatric otolaryngology practice between 2001 and 2021 with historical and physical findings consistent with pilomatrixoma. Of the 18 patients, 7 were male and 11 were female. Ages ranged from 1.5 to 14 years, with a mean of 7.5 years. Most of the lesions (12) were located in the head and face, while the rest (6) were found in the neck. All patients were treated with complete surgical excision. Pathology confirmed pilomatrixoma in 15 patients. The remaining 3 children were found to have an epidermal inclusion cyst, a ruptured trichilemmal cyst, and a giant molluscum contagiosum lesion, respectively. One additional patient presented with a small lesion of the auricular helix that was thought to be a dermoid cyst, but proved to be a pilomatrixoma on histologic examination. As pilomatrixomas are common and have a very characteristic presentation, surgical excision without prior diagnostic imaging will lead to correct treatment in the majority of cases. High resolution ultrasonography can help to confirm the diagnosis preoperatively, but is not definitive in large case series. Most of the cystic lesions that imitate pilomatrixoma will ultimately require surgical excision.
Topics: Child; Humans; Male; Female; Infant; Child, Preschool; Adolescent; Pilomatrixoma; Skin Neoplasms; Hair Diseases; Head and Neck Neoplasms; Epidermal Cyst
PubMed: 34549614
DOI: 10.1177/01455613211044778 -
The Journal of Craniofacial SurgeryEpidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise... (Review)
Review
BACKGROUND
Epidermoid and dermoid cysts are benign developmental anomalies that can form anywhere in the body. Despite the rarity of incidence in the head and neck, they can arise at a variety of craniofacial locations. The purpose of this study was to analyze the clinical features of epidermoid and dermoid cysts arising in the craniofacial region with a literature review.
METHODS
A retrospective study was designed, and clinical features and surgical considerations were investigated from a literature review. Cases of epidermoid cysts in the scalp, temporal area, glabellar area, mouth floor, and buccal mucosa were described.
RESULTS
Dermoid cysts in more lateral regions of the scalp are rarely associated with intracranial extension. Because temporal dermoid cysts have a high rate of intracranial extension, radiological evaluation of the lesions in the temporal area is imperative. Epidermoid cysts in the glabellar area are usually superficial. Consideration of the surgical approach for an epidermoid cyst of the mouth floor is important. Because epidermoid cysts in the buccal mucosa are extremely rare, differential diagnosis was emphasized. Epidermoid cysts in the scalp, in the temporal intradiploic area, on the glabellar area in the periorbital region, in the mouth floor, and in the buccal mucosa were surgically excised considering the depth and location. Ten cases of epidermoid cysts in the buccal mucosa were retrieved from the literature review.
CONCLUSIONS
Consideration of the anatomic locations of epidermoid and dermoid cysts in the craniofacial region might help facilitate accurate diagnosis and treatment.
Topics: Humans; Epidermal Cyst; Dermoid Cyst; Retrospective Studies; Face; Scalp
PubMed: 37487139
DOI: 10.1097/SCS.0000000000009561 -
Laryngo- Rhino- Otologie May 2024The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary... (Review)
Review
The following review article highlights key topics in pediatric rhinology that are currently the focus in research and at conferences as well as in the interdisciplinary discussion between otorhinolaryngologists and pediatricians. In particular, congenital malformations such as choanal atresia or nasal dermoid cysts are discussed, followed by statements on the current procedures for sinogenic orbital complications as well as on the diagnosis and therapy of chronic rhinosinusitis in children. Furthermore, updates on the role of the ENT specialist in the care for children with cystic fibrosis and primary ciliary dyskinesia are provided.
Topics: Humans; Child; Choanal Atresia; Rhinitis; Sinusitis; Dermoid Cyst; Cystic Fibrosis; Chronic Disease
PubMed: 38697148
DOI: 10.1055/a-2178-2957