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

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.

Dermoid Inclusion Cyst Following Percutaneous Needle Fasciotomy: A Novel Complication.

We present the case of a fit and well 62-year-old male with Dupuytren's disease in the right hand who underwent percutaneous needle fasciotomy (PNF) for a moderate flexion contracture of the right little finger. 18 months later he developed a pain-free soft tissue swelling at the distal previous needling site. A fasciectomy procedure identified a cyst within the pre-tendinous cord, which was confirmed as a dermoid inclusion cyst on histological analysis. Dermoid inclusion cysts may occur in the hands at the site of penetrating trauma but we are unaware of any report of an inclusion cyst at the site of PNF surgery. We present this unique case of a dermoid inclusion cyst following percutaneous needle fasciotomy as a novel complication.

Intraspinal Inclusion Tumor After Myelomeningocele Repair: A Long-Term Single-Center Experience.

OBJECTIVE: Given the lack of significant responses to many queries regarding behavior, treatment options, and possible prevention of iatrogenic intraspinal inclusion tumors (IITs), we think that further clinical, radiologic, and follow-up data are mandatory to better characterize this entity. We retrospectively reviewed a series of 14 consecutive patients with IIT occurring after myelomeningocele repair. The long follow-up is a mainstay of this series and may help a better understanding of the history of this slow-growing disease. To date, this is the largest series of IITs after myelomeningocele repair reported in the literature. METHODS: A retrospective chart review was performed to identify all cases of surgically repaired myelomeningocele at the Department of Neurosurgery of G. Gaslini Children's Hospital in Genoa, from January 1993 to January 2018. Among them, data regarding patients in whom an IIT developed were recovered. The medical records of these patients and their clinical history, neurologic examination, and diagnostic workup were reviewed. RESULTS: From January 1993 to January 2018, 160 cases of myelomeningocele were surgically treated. Among them, 14 cases of IIT developed. The mean time between myelomeningocele repair and IIT diagnosis was 94.7 months. The mean follow-up time was 60.1 months. CONCLUSIONS: It is well established that IITs may be discovered in patients who have previously undergone myelomeningocele repair. In our series, with a long follow-up time, we describe the possible range of behavior of such lesions and the utility of surgical treatment of primary therapy. Our series confirms that residual IITs showed marked stability during our long follow-up.

The association of maternal factors with epibulbar dermoid of newborn: a retrospective, matched case-control study.

PurposeTo determine the association of maternal factors and exposure during pregnancy with the incidence in newborns of epibulbar dermoid (ED), a congenital ocular surface benign tumor.Patients and methodsThis is a retrospective, paired case-control study in which 121 children with ED (case group) and 121 children without ED (control group) were recruited. Questionnaire-based interviews with mothers of participants were performed and maternal medical records during pregnancy were reviewed. The questionnaire investigated basic information, personal history, environmental exposure, exposure to maternal diseases, symptoms and corresponding medical treatments during pregnancy, and parental socioeconomic status. The case and control participants were matched for sex, birth weight, gestational age, and parental socioeconomic status level. Univariate and multivariate logistic regression analyses were conducted with ED as the main outcome variable.ResultsFactors significantly associated with ED were: history of maternal inevitable miscarriage (odds ratio (OR), 2.59; 95% confidence intervals (CI), 1.13-5.90), common cold in the first trimester (OR, 3.94; CI, 1.74-8.93), and paternal smoke exposure >half a pack per day during pregnancy (OR, 4.81; CI, 1.74-13.28).ConclusionHistory of maternal miscarriage, common cold exposure in the first trimester, and paternal smoking (>half a pack per day) during pregnancy could result in significant risk factors for ED of newborns. These data also imply that paternal smoking delivers nicotine to maternal respiratory system and uterine microenvironment that may both affect microvascular development and predispose the fetus to future ED.

Traumatic Presentation of a Periorbital Dermoid Cyst: A Case Report.

Dermoid cysts are largely considered benign, developmental neoplasms that frequently present during childhood. Orbitofacial dermoids represent a unique group of embryologically derived soft tissue masses that often present as localized, well-circumscribed swellings along the embryonal suture lines. Clinical presentation is variable, but in rare instances, may be preceded by local trauma, possibly suggesting an inciting event as the initial stimulus to cyst enlargement. Although dermoid cysts tend to remain clinically benign, their natural history of gradual enlargement necessitates complete surgical excision to prevent complications.

Atypical Presentation of Temporal Dermoid Cyst: Case Report / Apresentação atípica de cisto dermoide temporal: caso clínico

Dermoid account for 0.04­0.06% of intracranial tumors. The rupture of these slowgrowing lesions are a rare event, generally taking place spontaneously. Their presentation are clinically variable according to cyst topography and integrity. Surgery remains the first-line therapy and gross total resection should be attempted if feasible. We report on a case of a 22-year-old male with a 2-year history of seizures and cognitive impairment and a temporal mesial dermoid cyst successfully treated with gross total resection microsurgery.

Os Cistos dermoides compreendem 0,04­0,06% dos tumores intracranianos. É uma lesão de crescimento lento, e sua ruptura é um evento raro e espontâneo. A variabilidade clínica vai de acordo com a topografia do cisto e sua integridade. A cirurgia continua a ser a terapia de primeira linha, e a ressecção total é a opção sempre que for possível. Os autores relatam um caso de paciente com 22 anos de idade com histórico de 2 anos de convulsões e comprometimento cognitivo e diagnosticado com um cisto dermoide mesial temporal, tratado com sucesso com ressecção microcirúrgica.

Presentation, Diagnosis, and Treatment of Ovarian Torsion in Premenarchal Girls.

STUDY OBJECTIVE: To describe the clinical characteristics and treatment of ovarian torsion in premenarchal girls with surgically verified ovarian torsion. DESIGN AND PARTICIPANTS: A retrospective cohort study design was used. The medical charts of all premenarchal girls with surgically verified ovarian torsion treated in a university-affiliated tertiary medical center from 1997 to 2012 were reviewed for clinical, treatment, and outcome data. RESULTS: Thirty-two premenarchal girls were identified. Their median age was 9 years. There were 7 recurrences during the study period (17.9%), for a total of 39 cases. The main presenting symptoms were abdominal pain (92.3%) and nausea and vomiting (84.6%). Physical examination revealed abdominal tenderness in 25 cases (64.1%). Abdominal ultrasound, performed in 31 patients (38 cases), yielded pathologic findings in 28 (73.7%), mainly an enlarged ovary (11 cases, 28.9%). Doppler flow studies were abnormal in 15 cases. In 26 cases (68.4%), the tentative preoperative working diagnosis was ovarian torsion. Laparoscopy was performed in 26 cases, laparotomy in 10, and laparoscopy converted to laparotomy in 3 cases. Conservative management, mainly with additional cyst drainage or cystectomy, was used in 37 cases (95.2%) with oophoropexy in 5 cases. Two patients required oophorectomy because of a suspected neoplasm and severe ovarian necrosis. Pathologic examination demonstrated 5 simple cysts, 1 necrotic ovary, and 1 mature cystic teratoma. CONCLUSIONS: Ovarian torsion in premenarchal girls is associated with nonspecific signs and symptoms. Abdominal ultrasound and Doppler imaging may assist in the diagnosis. Laparoscopy with conservative management is preferred. Owing to the high recurrence rate, oophoropexy may be considered.

Myofascial Closure of Intradural Inclusion Cysts following in utero Myelomeningocele Repair.

Myelomeningocele is one of the most common congenital malformations. A randomized controlled trial, known as the Management of Myelomeningocele Study (MOMS), demonstrated that closure during the fetal period can be performed relatively safely and be of significant benefit to patients. However, postnatally, patients can develop resultant symptoms from a tethered cord and inclusion cysts; this often requires surgical treatment. Repeat surgery in this population can be challenging due to the age of the patients, the extent of surgical exposure needed and the need for resection of dermal and epidermal tissues in the midline. We describe our approach for closure of these complex defects using lateral fasciocutaneous flaps with relaxing incisions made in the posterior axillary line, in order to minimize tension and maximize soft tissue coverage of the midline.

Traumatic hemorrhage within a cerebellar dermoid cyst.

Intracranial dermoid cysts with hemorrhage are fairly rare. Herein, we reported a 28-year-old female patient with a cerebellar dermoid cyst, which was found accidently on neuro-imaging after head trauma. MR scanning revealed that the lesion was located within the cerebellar vermis and was measured 3.5cm×3.9cm×3.0cm, with hyper-intensity on T1WI and hypo-intensity on T2WI. However, on CT imaging, it showed hyper-dense signals. It was removed completely via midline sub-occipital approach under surgical microscope. Histological examination proved it was a dermoid cyst with internal hemorrhage. In combination with literature review, we discussed the factors that might be responsible for the hemorrhage within dermoid cysts.

Dermoid cyst in the facial nerve--a unique diagnosis.

Facial nerve paralysis in children may occur as a complication of infections, trauma, or rarely from benign or malignant tumors of the facial nerve. We present the first reported case of a dermoid tumor in the facial nerve causing facial paralysis in a child. Case report at a tertiary Children's Hospital. A 9-month-old was referred to our institution for evaluation of persistent, complete right sided facial paralysis three months after receiving a diagnosis of Bell's palsy. A workup at our institution including MRI and CT revealed marked widening of the facial canal in the mastoid segment consistent with facial nerve schwannoma or hemangioma. Surgical exploration via mastoidectomy and facial nerve decompression revealed keratinous material containing hair that had fully eroded the facial nerve, disrupting it completely. The entire tumor was removed along with the involved segment of facial nerve, and the missing facial nerve segment was cable grafted. Histological examination of the tumor confirmed a ruptured dermoid cyst in the facial nerve. Facial nerve tumors are rare causes of facial paralysis in children, accounting for fewer than 10% of cases of facial paralysis in the pediatric population. Dermoid cyst can occur throughout the head and neck region in children, but a dermoid tumor in the facial nerve has not been described in the literature prior to this report. This represents a new and uncommon diagnostic entity in the evaluation of facial nerve paralysis in children. Appropriate imaging studies and pathology slides will be reviewed.

[Definitive treatment of multiple recurrences of sacral dermoid cysts using an inferior gluteal artery perforator fasciocutaneous flap]. / Többszörösen kiújult sacralis dermoid definitív megoldása az arteria glutealis inferior direct fasciocutan ágára nyelezett transzpozíciós lebeny alkalmazásával.

AIM: Treatment of sacral dermoid cysts (SDC) is a surgical challenge. Etiology and adequate operative technique of that are debated widely up to now, and recurrence rates remained high despite various surgical techniques applied. In cases of unsuccessfully operated and repeatedly recurrent SDC a fascio-cutaneous flap on the first perforating branch of the inferior gluteal artery (IGA) is a definitive procedure. MATERIAL AND METHOD: Following preparation and dissection of sidebranches of IGA in cadavers, a repeatedly recurrent SDC was operated. CONCLUSION: a flap harvested and transferred on the first superficial perforating branch(es) of the inferior gluteal artery offers a definitive and recurrence-free surgical solution for SDC.