How often do we incidentally find a fetal abnormality at the routine third-trimester growth scan? A population-based study.

BACKGROUND: Third-trimester scans are increasingly used to try to prevent adverse outcomes associated with abnormalities of fetal growth. Unexpected fetal malformations detected at third-trimester growth scans are rarely reported. OBJECTIVE: To determine the incidence and type of fetal malformations detected in women attending a routine third-trimester growth scan. STUDY DESIGN: This was a population-based study of all women with singleton pregnancy attending antenatal care over a 2-year period in Oxfordshire, UK. Women who had a viable singleton pregnancy at dating scan were included. Women had standard obstetrical care including the offer of a routine dating scan and combined screening for trisomies; a routine anomaly scan at 18 to 22 weeks; and a routine third-trimester growth scan at 36 weeks. The third-trimester scan comprises assessment of fetal presentation, amniotic fluid, biometry, umbilical and middle cerebral artery Dopplers, but no formal anatomic assessment is undertaken. Scans are performed by certified sonographers or clinical fellows (n=54), and any suspected abnormalities are evaluated by a team of fetal medicine specialists. We assessed the frequency and type of incidental congenital malformations identified for the first time at this third-trimester scan. All babies were followed-up after birth for a minimum of 6 months. RESULTS: There were 15,244 women attending routine antenatal care. Anomalies were detected in 474 (3.1%) fetuses as follows: 103 (21.7%) were detected before the anomaly scan, 174 (36.7%) at the anomaly scan, 11 (2.3%) after the anomaly scan and before the third-trimester scan, 43 (9.1%) at the third-trimester scan and 143 (30.2%) after birth. The 43 abnormalities were found in a total of 13,023 women who had a 36 weeks scan, suggesting that in 1 out of 303 (95% confidence interval, 233-432) women attending such a scan, a new malformation was detected. Anomalies detected at the routine third-trimester scan were of the urinary tract (n=30), central nervous system (5), simple ovarian cysts (4), chromosomal (1), splenic cyst (1), skeletal dysplasia (1), and cutaneous lymphangioma (1). Most urinary tract anomalies were renal pelvic dilatation, which showed spontaneous resolution in 57% of the cases. CONCLUSION: When undertaking a program of routine third-trimester growth scans in women who have had previous screening scans, an unexpected congenital malformation is detected in approximately 1 in 300 women.

Neck masses in children: a 10-year single-centre experience in Northwest China.

Neck masses in children are a common clinical concern but there is a paucity of published information about them. We organised this retrospective study to analyse their prevalence and treatment in Northwest China. The records of 207 children who presented with neck masses between 2008 and 2017 were retrieved from the Department of Oral and Maxillofacial Surgery, Lanzhou University Second Hospital, and age, sex, clinical presentation, preoperative investigation, surgical procedure, histopathological diagnosis, and complications were recorded. Their mean (range) age was 10 years (6 months to 21 years), and the male:female ratio was 1.23:1. In total 128 patients (62%) had congenital lesions, 35 (17%) had inflammatory lesions, and 44 (21%) had neoplastic lesions. The most common mass was a thyroglossal cyst (31%), followed by plunging ranula (17%) and lymphangioma (16%). Temporary injury to the facial nerve and wound infection were the major complications of surgical treatment. The types of neck masses in Northwest China differ from those previously reported, which may be attributed to genetic alterations in people of this race. The present report adds to the knowledge of diagnosis and treatment of neck masses in children in Northwest China, and brings out the demographic differences between races.

Residential radon and birth defects: A population-based assessment.

BACKGROUND: Associations have been reported between maternal radiation exposure and birth defects. No such studies were found on radon. Our objective was to determine if there is an association between living in areas with higher radon levels and birth defects. METHODS: The Texas Birth Defects Registry provided data on all birth defects from 1999 to 2009 from the entire state. Mean radon levels by geologic region came from the Texas Indoor Radon Survey. The association between radon and birth defects was estimated using multilevel mixed effect Poisson regression. RESULTS: Birth defects overall were not associated with residential radon levels. Of the 100 other birth defect groups with at least 500 cases, 14 were significantly elevated in areas with high mean radon level in crude analyses, and 9 after adjustment for confounders. Cleft lip with/without cleft palate had an adjusted prevalence ratio of 1.16 per 1 picoCurie/liter (pCi/L) increase in exposure to region mean radon, 95% confidence interval, 1.08-1.26. Cystic hygroma / lymphangioma had an adjusted prevalence ratio of 1.22 per 1 pCi/L increase, 95% confidence interval, 1.02-1.46. Other associations were suggested but not as consistent: three skeletal defects, Down syndrome, other specified anomalies of the brain, and other specified anomalies of the bladder and urethra. CONCLUSION: In the first study of residential radon and birth defects, we found associations with cleft lip w/wo cleft palate and cystic hygroma / lymphangioma. Other associations were suggested. The ecological nature of this study and multiple comparisons suggest that our results be interpreted with caution.

Lymphangioma Circumscriptum: Clinicopathological Spectrum of 29 Cases.

OBJECTIVE: To describe the clinicopathological spectrum of Lymphangioma Circumscriptum (LC). STUDY DESIGN: Observational case series. PLACE AND DURATION OF STUDY: Department of Pathology and Microbiology, AKUH, Karachi, from 2002 to 2012. METHODOLOGY: All reported cases of LC were retrieved from medical record. Clinical and pathological features were noted. Frequency percentages were determined. RESULTS: There were 29 cases of LC predominantly males (62%). The mean age was 27.17 ±15.5 years. The commonest sites was anal/perianal region (24%) followed by extremities (17%) and tongue, (14%). Vulval LC was seen in 3 patients. Two cases were described on scrotum. The lesions were most commonly suspected as viral warts, mole or polyp (in anal region). Vesicles with erosions and bleeding and localized growth were the usual clinical presentations. Four of the patients presented with swelling since birth. All were treated with surgical excision. Microscopic examination revealed acanthotic squamous epithelium with papillomatosis. The subepithelial region had collections of lymphatic channels composed of ectatic dilated vessels with serum and inflammatory cells in their lumina. The lymphatic channels were seen in deeper layers along with lymphocytic aggregates. CONCLUSION: Lymphangioma circumscriptum is a malformation of abnormal lymphatic channels with feeding cisterns in subcutaneous tissue. It is a benign lesion usually occurring in anal/perianal region and confused with warts. Surgical excision is preferred mode of treatment.

[Unusual diagnosis of an intrathoracic tumor, cavernosum lymphangioma. Case report]. / Diagnóstico inusual de un tumor intratorácico, linfangioma cavernoso. Reporte de un caso.

BACKGROUND: Thoracic lymphangioma is a rare benign disease representing only 0.7-4.5% of all mediastinal tumors. Its etiology is currently unknown. Most are asymptomatic at first, and the condition is common in the pediatric age. We present a case to document this rare disease and describe the literature. CLINICAL CASE: We present the case of a 5-year-old female without clinically significant medical history. The patient attended a routine physician visit where a heart murmur was discovered. A diagnostic protocol was initiated, finding a mass on chest x-rays, apparently with an intrathoracic localization. Chest computed tomography confirms a tumor of 13 × 11 cm localized in the anterior mediastinum. Laboratory studies were within normal parameters. Complete surgical resection was decided upon and histopathological diagnosis of cavernosum lymphangioma is confirmed. The patient experienced an adequate evolution without evidence of relapse at this timeConclusion: Characteristics of the case shown are consistent with those reported in the literature. Diagnostic management as well as the surgical plan was successful without presenting morbidity so far.

Antecedentes: el linfangioma torácico es una enfermedad benigna, rara, que sólo ocupa 0.7-4.5% de todos los tumores mediastinales. Se desconoce la etiología actual. La mayor parte son asintomáticos y su aparición es común en pacientes pediátricos. Se comunica un caso con el propósito de documentar esta rara afección y describir lo que existe en la bibliografía. Caso clínico: paciente femenina de cinco años de edad, sin antecedentes de importancia, a quien en la consulta rutinaria se le encontró un soplo cardiaco. En las radiografías de tórax se encontró un tumor de localización aparente intratorácica. La tomografía de tórax confirmó que se trataba de un tumor en el mediastino anterior de 13 × 11 cm. Los estudios de laboratorio se encontraron dentro de parámetros normales. Se realizó una resección quirúrgica completa y se confirmó el diagnóstico histopatológico de linfangioma cavernoso. La paciente evolucionó satisfactoriamente, hasta el momento de enviar a publicación este reporte, sin evidencia de recidiva. Conclusiones: las características del caso expuesto son compatibles con lo reportado en la bibliografía. El establecimiento del diagnóstico y el plan quirúrgico fueron exitosos, sin morbilidad agregada.

Microscopic Kaposiform hemangioendothelioma with extensive lymphangiomatosis: an extraordinary example of an unusual entity.

Kaposiform hemangioendothelioma (KHE) is presently classified as a vascular neoplasm of intermediate malignant potential. The clinical course of large, deep-seated tumors is frequently complicated by consumptive coagulopathy and life-threatening hemorrhage, while superficial tumors tend to behave in an indolent manner, with no known reports of distant metastasis. We describe an unusual example of KHE occurring as an incidental microscopic finding, within a background of extensive lymphangioma-like changes. The patient underwent 4 intralesional excisions over a period of 6 years, and the Kaposiform component accounts for less than 5% of the overall tissue excised. The patient remains clinically well with residual disease 5 years after conservative surgery, and there has been no evidence of regional or distant metastasis. Based on existing literature, it appears doubtful that KHE has any metastatic potential at all, which calls into question the appropriateness of its place in the spectrum of malignant vascular neoplasms.

Human safety risk assessment of lymph node angiomas observed in 2-year carcinogenicity studies in rats.

The occurrence of mesenteric lymph node angiomas (benign vascular neoplasms including lymphangioma and hemangioma) in untreated control rats in 2-year carcinogenicity studies can range from rare to common depending on the strain used. This lesion is most common in male rats. Factors and conditions that may contribute to the etiopathogenesis of lymph node angiomas in rats include: (1) genetic drift, (2) congenital/developmental malformation, (3) sinus vascular transformation/venous obstruction of outflow, (4) "inflammatory" pseudo-tumors, and/or (5) defects of endothelial lymphatic vascular secretion/permeability. Lymph node angiomas in humans are extremely rare, not reported in mesenteric lymph nodes, and more common in females than males. The evaluation of increased mesenteric lymph node angiomas in rats for overall human safety risk assessment of novel pharmaceutical therapeutics should consider: genotoxicity of the test article, occurrence of vascular neoplasms in other locations in rats and in mice, occurrence of proliferative vascular lesions in nonclinical toxicology studies in non-rodent species, dose/exposure response, and pathophysiologic/morphologic differences and similarities of lymph node angiomas between rats and humans. Angiomas are independent lesions from angiosarcomas and are not precursors for angiosarcomas in either humans or animals. Mesenteric lymph node angiomas in rats are unlikely to be relevant for human risk assessment of pharmaceutical agents.

Acquired vulvar lymphangioma circumscriptum: a comparison of 12 cases with Crohn's associated lesions or radiation therapy induced tumors.

BACKGROUND: Lymphangioma circumscriptum (LC) is a benign lesion of lymphatic origin. Vulvar involvement occurs in various clinical settings. METHODS: We present 12 cases, and compare lesions in patients with Crohn's disease and those associated with pelvic radiation. RESULTS: The average age at presentation was 49 years. Thirty-three percent of the patients had Crohn's disease, 58% had radiation therapy and 9% had no significant medical history. Sixty-seven percent of the patients had multifocal lesions in anatomically distinct regions. Patients presented on average 16 years after onset of predisposing factors. Presenting complaints were pruritus, wetness and vulvar edema. Lesions were clinically heterogeneous, often found on the labia majora. Lesions consisted of dilated lymphatic channels at the junction of the reticular and papillary dermis. The cells lining these spaces lacked cytologic atypicality or mitotic activity. All lesions so examined were immunoreactive for D240. Patients were most often treated with surgical excision followed by laser ablation. Four of twelve patients, all with radiation-associated lesions, experienced disease progression necessitating additional surgery. CONCLUSIONS: Patients with LC secondary to radiation, when compared to those with Crohn's disease, were 10 years younger, more likely to have associated co-morbidities, and frequently experienced disease progression needing additional surgeries. Acquired vulvar LC has multiple causes with differing prognosis.

[Tumors of salivary glands: anatomical study and clinical epidemiology of a series of 180 cases]. / Les tumeurs des glandes salivaires: etude anatomo-clinique et. Epidemiologique d'une série de 180 cas.

BACKGROUND: The salivary gland tumors are rare (less than 3% of all tumors) and poorly known. In fact, they are numerous and histologically difficult to diagnose. AIM: This work aims to point at the different histological types of salivary gland tumors, to draw out the principal epidemiological, clinical, radiological and histological characteristics, and to compare our cases to those of the literature. METHODS: Accordingly, we performed a descriptive type study about 180 cases of salivary gland tumors from the departments of pathology and oto-rhino-laryngology of Habib Thameur hospital during 25 years, extending from April 1979 to December 2004. RESULTS: Benign tumors were predominant (88%), while malignant ones represented 12% of our cases dominated by carcinomas. The sex-ratio was 0.96. Parotid gland location was the most frequent one, and pleomorphic adenoma was the most frequent tumor (62%). CONCLUSION: Histological diversity of salivary tumors results in difficulties for differential diagnosis. These problems can be solved by a precise diagnostic approach and sometimes by an immunohistochemistry study.

Colocolic intussusception in a preterm infant with intestinal malrotation.

The association of intussusception and intestinal malrotation is referred to as Waugh syndrome. A prospective study among 49 children with intussusception found a 40% incidence of malrotation. We describe the rare occurrence of colocolic intussusception in a neonate with malrotated intestine. We believe this is the first reported case in the neonatal period where the pathogenic lead point was an intestinal lymphangioma.

Head and neck vascular anomalies in children.

Vascular lesions are the most common congenital and neonatal abnormalities. The aim of this work is to point out differences between various vascular anomalies, in order to define accurate diagnosis, and to present different therapeutic options now used for the treatment of the vascular lesions in children. According to biological classification described by the work of Mulliken and Glowacki there are two major types of vascular abnormality: haemangioma and vascular malformation. Haemangioma is a distinct biologic tumour entity characterised by rapid endothelial proliferation shortly after birth. The lesion is absent at birth and growth in early infancy, followed by a spontaneous resolution in childhood. Vascular malformations are structural anomalies that have a normal growth rate and endothelial turnover. According to the morphology of the vessels and the flow rate we distinguish: slow-flow and fast-flow vascular malformation. The authors document their personal experience in diagnosis, clinical evaluation, treatment and follow-up of the vascular lesions.

Zosteriform lymphangioma circumscriptum.

Lymphangioma circumscriptum (LC) is a form of lymphangioma involving skin and subcutaneous tissue. It is evident as translucent vesicles of varying size, though commonly 2 to 4 mm, and of a pink, red, or black hue. It is localized to the dermis, frequently extending deeply and laterally. LC may resemble other entities, such as metastatic carcinoma of the skin, lymphangiectasis, or herpes zoster. We report an unusual verruciform, zosteriform form of LC.

Congenital neck masses: a descriptive retrospective study of 252 cases.

PURPOSE: This retrospective study was conducted to analyze congenital neck masses in Jordanians compared with international findings. PATIENTS AND METHODS: The records of patients with congenital neck masses between 1991 and 2002 were retrieved from the Department of Pathology, Jordan University of Science and Technology, and analyzed for age, gender, location, clinical features, and treatment. RESULTS: Within the 12-year period of the study, a total of 2,063 neck mass lesions were found; of these, 252 (12%) were congenital masses. These cases were distributed into 166 (66%) midline, 55 (22%) lateral, and 31 (12%) entire neck masses. The most frequent mass was thyroglossal duct cyst (fistulas) (53%), followed by cysts (fistulas) of the branchial apparatus (22%), dermoid cysts (11%), hemangiomas (7%), and 1ymphangiomas (6%). The majority of branchial arch anomalies (85%) were of the second arch. The mean age of patients was 16 years, with the greatest number of cases (38%) in the first decade. The male-to-female ratio was 1:1.2, with most lesions affecting females. The majority of lesions presented with painless neck swelling, and all lesions were surgically excised. CONCLUSIONS: The overall frequency and age distribution of congenital neck masses in northern Jordanians are similar to international findings. However, the gender distribution and relative frequency of individual types of neck masses are somewhat different from those in other countries. These differences may be attributed to genetic and geographic differences.

Intracranial vascular anomalies in patients with periorbital lymphatic and lymphaticovenous malformations.

BACKGROUND AND PURPOSE: The purpose of this study was to determine the nature, incidence, and radiologic appearance of intracranial vascular anomalies that occur in association with periorbital lymphatic malformation (LM) and lymphaticovenous malformation (LVM). MATERIALS AND METHODS: We retrospectively reviewed clinical records and imaging studies of 33 patients ranging in age from the neonatal period to 39 years (mean age, 5.1 years; median age, 1.0 year) who were evaluated for orbital LM or LVM at our institution between 1953 and 2002. Imaging studies, including CT, MR imaging, and cerebral angiograms, were evaluated by 2 radiologists to determine morphologic features of orbital LM and to identify associated noncontiguous intracranial vascular and parenchymal anomalies, including arteriovenous malformations (AVM), cerebral cavernous malformations (CCM), developmental venous anomalies (DVA), dural arteriovenous malformations (DAVM), and sinus pericranii (SP). RESULTS: The malformation was left-sided in 70% of patients. Twenty-two patients (70%) had intracranial vascular anomalies: DVA (n = 20; 61%), CCM (n = 2; 6%), DAVM (n = 4; 12%), pial AVM (n = 1; 3%), and SP (n = 1; 3%). Arterial shunts were present in the soft tissues in 2 patients (6%). Three patients had jugular venous anomalies. Three patients (9%) had cerebral hemiatrophy, 2 (6%) had focal cerebral atrophy, and 2 had Chiari I malformation. CONCLUSIONS: Intracranial vascular anomalies, some of which are potentially symptomatic and require treatment, are present in more than two thirds of patients with periorbital LM. Initial imaging of patients with orbital LM should include the brain as well as the orbit.

Mediastinal lymphangioma: Mayo Clinic experience of 25 cases.

OBJECTIVE: To describe the clinical findings, treatment outcomes, disease recurrence rates, and survival of patients with pathologically confirmed mediastinal and cervicomediastinal lymphangioma. PATIENTS AND METHODS: There are 2 patient cohorts. Cohort A consisted of 12 Mayo Clinic patients with pathologically confirmed medilastinal or cervicomediastinal lymphangioma identified from 1986 to 1999. Cohort B consisted of 13 additional patients with mediastinal lymphangioma who had been previously reported from the Mayo Clinic (from 1976 to 1986). All patients were retrospectively identified, and follow-up was performed by either telephone or medical record review. RESULTS: The mean age at the time of diagnosis was 36.5 years, with a male-female ratio of 1:3. All but 3 patients were symptomatic at presentation, with dyspnea being the most common symptom. Computed tomographic scans commonly revealed a homogeneous, low-attenuation mass that often Involved vascular or airway structures. Although 3 patients were initially observed, all patients had surgical intervention because of symptoms or enlargement of the mass. Thoracotomy with resection was the most common surgical intervention. Five recurrences were noted. Recurrence was minimized by complete excision of the lymphangioma. On follow-up that spanned 23 years, 75% of patients were alive. These survival rates were not statistically different from the expected survival rates of the same age- and sex-matched controls. Only 1 death was attributed to complication from lymphangioma. CONCLUSION: Mediastinal and cervicomediastinal lymphangioma are rare lesions that can be treated successfully with surgical excision. Prognosis appears to be excellent because no difference in survival was found between patients and age- and sex-matched controls.

Gorham Stout syndrome (disappearing bone disease): two additional case reports and a review of the literature.

Gorham-Stout syndrome, or disappearing bone disease, is characterized by the proliferation of thin-walled vascular channels associated with regional osteolysis. There have been fewer than 150 cases reported in the literature. In this clinical report, we describe 2 additional cases of Gorham-Stout syndrome affecting the maxillofacial skeleton. We provide a review of the clinical diagnosis of this syndrome and describe treatment options.

Lymphangioma of the sphenoid sinus.

Lymphangiomas are rare benign lymphatic tumours found predominantly in the head and neck region. A case of a cavernous lymphangioma isolated to the sphenoid sinus is described. The authors emphasize the extreme rarity of the isolated sphenoid lymphangioma, as to their knowledge this is the first report in the English literature.

Lymphangioma circumscriptum of the vulva: a review of the literature.

OBJECTIVE: To promote proper identification and management of this rare entity by presenting a review of the literature, a case report, and illustrations of its presentation and pathology. DATA SOURCES: Sources searched included the literature contained in the National Library of Medicine's PubMed database, using the term "lymphangioma circumscriptum" combined with "vulva." Other search terms used were "capillary lymphangioma," "lymphangiectasia," and "dermal lymphangioma." Sources also included articles predating the PubMed database that were cited by other writers. METHODS OF STUDY SELECTION: Selections were restricted to the English-language medical literature published since 1960, and the search resulted in retrieval of 3272 published papers about lymphangioma. TABULATION, INTEGRATION, AND RESULTS: Congenital lymphangioma circumscriptum of the vulva has been reported in 11 patients, including one case reported and illustrated in this paper, and acquired lymphangioma circumscriptum has been reported in 20. It affects females 9-76 years old (mean 42.5 years). Clinically, it is characterized by persistent clusters of thin-walled vesicles filled with clear fluid. The diagnosis is usually made by biopsy, as these lesions often mimic such infectious diseases as molluscum contagiosum. Management options have included surgical excision of the skin and subcutaneous tissue, surface abrasion by laser or sclerosing therapy, and observation. CONCLUSION: From this comprehensive review, which includes the clinicopathologic features of both the congenital and acquired forms, illustrations from the rarest form, and a summary of treatment approaches, we conclude that lymphangioma circumscriptum poses a diagnostic challenge the risks of which are misdiagnosis and mistreatment. These risks would likely be reduced were a database of cases accessible that permitted long-term follow-up and better assessment of presenting characteristics and treatment options.

Late-onset superficial lymphatic malformation: report of a case and review of the literature.

BACKGROUND: Superficial lymphatic malformations are predominantly developmental malformations of infancy, but they may arise at any age. OBJECTIVE: To describe a patient with a late-onset superficial lymphatic malformation. METHODS: Case report and literature review. RESULTS: A 53-year-old woman was evaluated for a colored lesion that developed spontaneously on the anterior abdominal wall. The lesion was treated by surgical excision. Findings on histopathologic examination of the specimen were consistent with superficial lymphatic malformation. There was no recurrence of the lesion at 4 months after the operation. CONCLUSION: Superficial lymphatic malformations can develop in adults spontaneously without the presence of any predisposing condition. Because the majority of such late-onset malformations reported in the literature are localized lesions similar to the one in our patient, surgical removal with inclusion of subcutaneous tissue usually results in cure without recurrence.