Loss-of-Function Variant in PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.

Differences of sex development (DSDs) are a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex does not match. The broad spectrum of phenotypes associated with DSDs requires accurate diagnosis, which influences the care and quality of life of affected patients. The decreasing costs of next-generation sequencing (NGS) and international research collaborations in rare diseases have allowed the identification of new genes associated with DSDs. Recently, Hughes et al. in 2020 reported the association of loss-of-function (LoF) variants in PPP1R12A with morphological anomalies of the midline, including holoprosencephaly and urogenital malformations, also known as genitourinary and/or brain malformation syndrome (OMIM #618820). In this report, we describe a Mexican individual with hypertelorism, multiple skin hemangiomas, testicular atrophy, and sex reversal, in whom a c.1880delC frameshift variant in PPP1R12A was detected by exome sequencing. Segregation analysis confirmed it as a de novo variant through Sanger sequencing. The main objective of this report is to expand PPP1R12A-related urogenital and/or brain malformation syndrome.

Thermal imaging for monitoring the treatment of hemangioma in pediatric patient: case report.

Pediatric hemangiomas are benign vascular malformations or angiodysplasias characterized by the proliferation of endothelial cells in blood vessels. Their incidence is 4%-10% in children under 1 year of age, and they most frequently occur on the head and neck [1, 2]. In addition to causing facial deformities, facial hemangiomas can lead to both functional and aesthetic issues, often resulting in significant complications. These complications negatively impact the quality of life for patients and can also affect the psychological well-being and self-esteem of their families [3]. With the expected global smartphone penetration reaching 70% [4], this case report explores the use of smartphones integrated with thermographic cameras to monitor the involution of hemangiomas during sclerosing treatment. This approach represents a promising advancement in managing and assessing hemangioma treatment through accessible, real-time monitoring technology.

Combined Open Surgery and CO2 Laser for Giant Supraglottic Hemangioma in an Adult: A Case Report.

Laryngeal hemangiomas are rare vascular tumors, mainly in children, and less common in adults. Giant lesions typically require multiple endoscopic procedures and temporary tracheostomy. Open surgery allows single-procedure removal with fewer complications. CO2 laser excision controls bleeding and minimizes tissue damage. This study evaluates this hybrid approach to manage adult giant supraglottic hemangiomas. A 54-year-old woman with a giant supraglottic hemangioma was successfully treated using a combination of open surgery and CO2 laser. Limited data on adult laryngeal hemangiomas result in a lack of established treatment protocols. For giant supraglottic hemangiomas, combining open surgery with CO2 laser resection offers distinct advantages: enhanced lesion visibility, optimal airway control, effective hemostasis, reduced tissue damage, and lower recurrence rates. This hybrid approach also supports rapid recovery and favorable clinical outcomes. Combining open surgical excision with CO2 laser is effective for managing giant supraglottic hemangiomas in adults.

Guía mexicana para el diagnóstico y el tratamiento del hemangioma infantil.

Infantile hemangioma is a benign vascular tumor, the most common in childhood, whose natural evolution is the disappearance of the lesion in the pediatric age and which has effective and safe treatments that limit its growth and favor its disappearance at younger ages. Infantile hemangioma continues to be a reason for attention to complications, due to erroneous diagnoses, lack of knowledge of the condition, late referral or fear of the effects of the medications used for its treatment. Furthermore, its presence is normalized without taking into account that it can cause uncertainty, anxiety, feelings of guilt and, as a consequence, a significant impact on the quality of life, mainly in the parents or caregivers of the child. The need for a clinical practice guideline in our country arises from the high presentation of late-remitted complications in infantile hemangioma even with the availability of adequate treatments, the continuous evolution of medicine and the appearance of new evidence. Throughout the guide you will find recommendations regarding the diagnosis, treatment and follow-up of patients with infantile hemangioma, taking into account the paraclinical tests that can be performed, topical or systemic management options, as well as adjuvant therapies. For the first time, objective tools for patient follow-up are included in a guide for the management of infantile hemangioma, as well as to help the first contact doctor in timely referral.

El hemangioma infantil es un tumor vascular benigno, el más frecuente de la infancia, cuya evolución natural favorece la desaparición de la lesión en la misma edad pediátrica y que cuenta con tratamientos eficaces y seguros que limitan su crecimiento y favorecen su desaparición a edades más tempranas. Continúa siendo motivo de atención de complicaciones, debido a diagnósticos erróneos, desconocimiento del padecimiento, referencia tardía o temor de los efectos de los fármacos utilizados para su tratamiento. Además, se normaliza su presencia sin tomar en cuenta que puede llegar a causar incertidumbre, ansiedad, sentimientos de culpa y, como consecuencia, importante afectación de la calidad de vida, principalmente en los padres o cuidadores del niño. La necesidad de una guía de práctica clínica en nuestro país surge ante la alta presentación de complicaciones del hemangioma infantil referidas de manera tardía aun con la disponibilidad de tratamientos adecuados, la evolución continua de la medicina y la aparición de nueva evidencia. A lo largo de la guía se encontrarán recomendaciones en relación con el diagnóstico, el tratamiento y el seguimiento de los pacientes con hemangioma infantil, tomando en cuenta los paraclínicos que pueden realizarse, las opciones de manejo tópico o sistémico, y las terapias adyuvantes. Por primera vez se incluyen en una guía para el manejo del hemangioma infantil herramientas objetivas para el seguimiento de los pacientes, así como para ayudar al médico de primer contacto en su referencia oportuna.

Bone Metastasis from Renal Cancer Coinciding with the Same Anatomical Position as a Vertebral Hemangioma: A Collision Lesion Case Report.

Collisions lesions are rare neoplasms where two histologically distinct tumors coexist in the same organ or anatomical site. Vertebral hemangiomas (VHs) are the most common lesions involving the vertebral bodies and imaging findings of typical and atypical hemangiomas, variant forms of hemangioma such as aggressive hemangiomas are well known, but collision lesions involving VHs are extremely rare. This article presents a case report of a 73-year-old male patient diagnosed with clear cell renal cancer in a rare presentation of a bone metastasis coinciding with the same anatomical position as a VH (collision lesion). This required a multidisciplinary approach involving various diagnostic techniques to determine the best therapeutic management.

Prenatal Diagnosis of Umbilical Cord Angiomyxoma: Case Studies and Literature Review of 45 Cases.

We describe two cases of umbilical cord (UC) angiomyxoma diagnosed prenatally by sonography in the second trimester of pregnancy. In both cases, a complex mass was detected at the placental insertion site, characterized by an echoic nodule surrounding the umbilical vessels and distal edematous Wharton's jelly. Follow-up scans showed that the mass grew mainly at the expense of its edematous component, with normal uteroplacental Dopplers throughout the remaining of the pregnancy. However, late-onset fetal growth restriction complicated the progress of pregnancy, requiring delivery by Cesarean section at 37 weeks' gestation in both cases. Neonatal courses were unremarkable. An extensive review of the English literature was also performed, collecting 45 similar cases including ours. Our experience as well as the review of the literature confirms that UC angiomyxoma is an uncommon, sporadic condition that is usually detected incidentally during prenatal sonography and presents as an isolated finding. Nevertheless, it represents a high-risk condition for pregnancy complications including prematurity, fetal growth restriction, and fetal demise.

Sclerosing Hemangioma of the Liver. Unusual and Benign Hepatic Neoplasm / Hemangioma Esclerosante del Hígado. Neoplasia Hepática Inusual y Benigna

SUMMARY: Hemangiomas are the most common non-cystic benign liver tumors. Typically, they are incidentally discovered through routine radiological imaging. These tumors can become complicated and develop fibrosis, with the extreme presentation being hepatic sclerosing hemangioma (HSH), a very rare, atypical benign tumor. Initial diagnosis of HSH is often erroneous, as it can be confused with primary or secondary malignant liver neoplasms. Consequently, HSH are frequently resected, and the diagnosis is confirmed through histological and immunohistochemical studies of the resected specimen. The aim of this manuscript was to report a surgically treated case of HSH and review the existing evidence regarding its clinical and morphological characteristics. The case of a 79-year-old male patient, who underwent surgical intervention for HSH at RedSalud Mayor Temuco Clinic in October 2023, was examined. A solid tumor situated Segment VI, measuring 4 cm in its largest dimension was identified. MRI demonstrated a mass with low-signal intensity mass on T1-weighted images and areas of high-signal intensity on T2-weighted images and a hypointense mass in the hepatobiliary phase. The tumor was completely excised. Subsequent to histopathological analysis, immunohistochemical staining was performed for WT1, CD31, ERG, CD34, and Pancitoqueratina AE3 & AE1. The patient experienced an uneventful postoperative course and was discharged on the third day after the surgery. During follow-up assessments, the patient's overall condition remains satisfactory. HSH is an exceedingly rare tumor. Clinical features and imaging findings associated with this type of lesion are non-specific. It should be included in the differential diagnosis of solid liver lesions. Complete surgical resection with clear margins is the treatment of choice, and it prognosis is favorable.

Los hemangiomas son los tumores hepáticos no quísticos benignos más comunes. Lo habitual es que se descubran de forma incidental con imágenes radiológicas de rutina. Estos pueden complicarse y desarrollar fibrosis, cuya presentación extrema es el hemangioma esclerosante hepático (HEH); un tumor benigno atípico muy poco frecuente, cuyo diagnóstico inicial suele ser erróneo, confundiéndose con neoplasias malignas primarias o secundarias del hígado. Por ello, es frecuente que sean resecadas y que el diagnóstico se establezca mediante estudios histológicos y de inmunohistoquímica del espécimen resecado. El objetivo de este manuscrito fue reportar un caso de HEH, que fue intervenido quirúrgicamente; y revisar la evidencia existente respecto de sus características morfológicas y clínicas. Caso clínico: Hombre de 79 años, con HEH intervenido quirúrgicamente en Clínica RedSalud Mayor Temuco en octubre de 2023. Se verificó un tumor sólido de 4 cm de diámetro mayor, localizado en el segmento VI del hígado. La resonancia magnética demostró una masa con baja intensidad de señal en T1 y áreas de alta intensidad de señal en T2. El tumor fue extirpado por completo. Después del estudio histopatológico, se realizaron tinciones inmunohistoquímicas complementarias para WT1, CD31, ERG, CD34 y Pancitoqueratina AE3 & AE1. El paciente tuvo un curso postoperatorio sin incidentes, siendo dado de alta al tercer día postoperatorio. En el control alejado, se encuentra en buenas condiciones generales. El HEH es un tumor muy poco frecuente. Las características clínicas e imágenes de este tipo de lesiones son inespecíficas. Debe de las lesiones sólidas del hígado. La resección considerarse en el diagnóstico diferencial quirúrgica completa con bordes libres es el tratamiento de elección; y su pronóstico es favorable.

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies. STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists. RESULTS: After 2 Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems. CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

Hemangioma congénito rápidamente involutivo: Reporte de un caso clínico

Se presenta el caso de un recién nacido a término que presenta en rodilla derecha masa redondeada, indolora, violácea, no friable ni ulcerada. Se realiza al nacimiento ecografía Doppler compatible con anomalía vascular. La Resonancia Magnética (RM) confirma tumoración anterior en rodilla derecha, isointensa en T2 con escasas estructuras tubulares serpinginosas, que corresponden con vasos sanguíneos. Presenta venas varicosas de drenaje a la Safena Mayor (SM) en cara anterointerna del muslo. Se decidió actitud expectante constatando reducción progresiva del tamaño del hemangioma. Al año de vida, refiere que en ocasiones presenta un bultoma a nivel inguinal derecho que se corresponde en ecografía doppler con cayado de la SM dilatado e incompetente, en probable relación con hiperaflujo de las varicosidades. Se realiza seguimiento en consulta, comprobando involución completa a los dos años, con atrofia cutánea residual en cara anteroexterna de rodilla y vascularización colateral que no aumenta con valsalva. Se trata de un hemangioma congénito rápidamente involutivo (RICH). Según la clasificación ISSVA, es un tumor vascular benigno que involuciona persistiendo leve hiperpigmentación y atrofia cutánea. (provisto por Infomedic International)

We present the case of a newborn at term with a rounded, painless, violaceous, non-friable and non-ulcerated mass in the right knee. Doppler ultrasound was performed at birth, compatible with vascular anomaly. Magnetic Resonance Imaging (MRI) confirms an anterior tumor in the right knee, isointense in T2 with few serpinginous tubular structures, corresponding to blood vessels. It presents varicose veins draining to the greater saphenous vein (MS) in the anterointernal aspect of the thigh. A wait-and-see approach was decided and a progressive reduction in the size of the hemangioma was observed. At one year of life, the patient reported that she occasionally presented a bulge at the right inguinal level that corresponded on Doppler ultrasound with a dilated and incompetent arch of the greater saphenous vein, probably related to hyperflow of varicose veins. The patient was followed up in consultation and complete involution was observed after two years, with residual cutaneous atrophy on the anteroexternal aspect of the knee and collateral vascularization that did not increase with valsalva. It is a rapidly involutive congenital hemangioma (RICH). According to the ISSVA classification, it is a benign vascular tumor that involves with persistent mild hyperpigmentation and cutaneous atrophy. (provided by Infomedic International)

Giant hepatic hemangioma in a patient with cirrhosis: challenging to manage.

Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years. Upper digestive endoscopy evidenced thin-caliber esophageal varices and significant extrinsic compression of the lesser gastric curvature. Abdominal computed tomography revealed an exophytic tumor in the left hepatic lobe, measuring 11.5 cm, which had progressive centripetal contrast enhancement from the arterial phase, compatible with hepatic hemangioma. Serum tumor markers were negative, and her liver function was unimpaired. The patient underwent surgical resection (non-anatomical hepatectomy of segments II and III) which had no immediate complications, and the histopathological evaluation confirmed cavernous hepatic hemangioma. Two weeks later, she was admitted to the emergency room with jaundice, signs of hepatic encephalopathy, and moderate ascites, and was further diagnosed with secondary bacterial peritonitis. As no perforations, abscesses, or fistulas were observed on subsequent imaging tests, clinical management was successfully carried out. This case highlights that giant hepatic hemangiomas may be symptomatic and warrant treatment. In the setting of cirrhosis and portal hypertension, physicians should be aware of the risk of hepatic decompensation following surgical resection, even in patients with Child-Pugh class A.

Hipertensão Arterial Pulmonar com Características de Envolvimento Venoso: Um Trabalho Investigativo / Pulmonary Arterial Hypertension with Features of Venous Involvement: A Detective's Task

Resumo A doença veno-oclusiva pulmonar (DVOP) e a hemangiomatose capilar pulmonar são tipos raros de substratos histopatológicos dentro do espectro da hipertensão arterial pulmonar (HAP) com prognóstico muito ruim. Caracterizam-se por um processo fibroproliferativo generalizado das veias e/ou capilares de pequeno calibre com preservação das veias maiores, resultando em um fenótipo de hipertensão pulmonar pré-capilar. A apresentação clínica é inespecífica e semelhante a outras etiologias de HAP. O diagnóstico definitivo é obtido por meio de análise histológica, embora a biópsia pulmonar não seja aconselhada devido ao maior risco de complicações. No entanto, alguns achados adicionais podem permitir um diagnóstico clínico presuntivo de DVOP, especialmente história de tabagismo, uso de drogas quimioterápicas, exposição a solventes orgânicos (particularmente tricloroetileno), baixa capacidade de difusão do monóxido de carbono (DLCO), dessaturação ao esforço e evidências de doença venosa sem doença cardíaca esquerda no exame de imagem, manifestada por uma tríade clássica de opacidades em vidro fosco, linhas septais, e linfadenopatias. O transplante pulmonar é o único tratamento eficaz e os pacientes devem ser encaminhados no momento do diagnóstico, devido à rápida progressão da doença e ao prognóstico ruim. Apresentamos o caso de um homem de 58 anos com HAP com características de envolvimento venoso/capilar em que a suspeita clínica, o pronto diagnóstico e o encaminhamento precoce para transplante pulmonar foram determinantes para um bom desfecho.

Abstract Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis are rare types of histopathological substrates within the spectrum of pulmonary arterial hypertension (PAH) with a very poor prognosis. They are characterized by a widespread fibroproliferative process of the small caliber veins and/or capillaries with sparing of the larger veins, resulting in a pre-capillary pulmonary hypertension phenotype. Clinical presentation is unspecific and similar to other PAH etiologies. Definitive diagnosis is obtained through histological analysis, although lung biopsy is not advised due to a higher risk of complications. However, some additional findings may allow a presumptive clinical diagnosis of PVOD, particularly a history of smoking, chemotherapy drug use, exposure to organic solvents (particularly trichloroethylene), low diffusing capacity for carbon monoxide (DLCO), exercise induced desaturation, and evidence of venous congestion without left heart disease on imaging, manifested by a classical triad of ground glass opacities, septal lines, and lymphadenopathies. Lung transplant is the only effective treatment, and patients should be referred at the time of diagnosis due to the rapid progression of the disease and associated poor prognosis. We present a case of a 58-year-old man with PAH with features of venous/capillary involvement in which clinical suspicion, prompt diagnosis, and early referral for lung transplantation were determinant factors for the successful outcome.

Nasal Lobular Capillary Hemangioma During Pregnancy: A Systematic Review.

Objective: To perform a systematic review of published cases of nasal lobular capillary hemangioma (LCH) during pregnancy. Data Source: PubMed, Embase, Scopus, Web of Science, and LILACS. Review Methods: We searched electronic databases from inception to June 30, 2022. Case report and case series that reported clinical data on nasal LCH during pregnancy were included. Categorical variables were expressed as proportions and numerical variables as mean ± standard deviation or median (interquartile range). Results: Twenty-three studies (20 case reports and 3 case series) involving 29 patients were included. The mean age was 30.5 ± 5.3 years. A total of 62% cases were diagnosed in the third trimester of pregnancy. The most frequent (62%) location of LCH was the nasal septum. All cases presented with epistaxis. A total of 48% cases were treated by surgical excision after delivery and the recurrence was 11%. Conclusion: Our review shows that nasal LCH during pregnancy usually manifests in the third trimester. This lesion can be treated by surgical excision with a relatively low risk of recurrence.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Littoral cell angioma of the spleen: case report and literature review

ABSTRACT Littoral cell angioma is an extremely rare splenic vascular tumor originating from the cells lining the splenic red pulp sinuses. Approximately 150 cases of littoral cell angioma have been reported since 1991. Its clinical manifestation is usually asymptomatic and is mostly diagnosed as an incidental finding through abdominal imaging. Herein, we present a case of littoral cell angioma in a 41-year-old woman with no previous comorbidities, which initially presented as a nonspecific splenic lesion diagnosed on imaging in the emergency room. The patient was treated through laparoscopic intervention.

A Rare Case of Clival Hemangioma Simulating Chordoma / Um caso raro de hemangioma clival simulando cordoma

Primary intraosseous hemangiomas are rare, benign, vascular malformations that account for 1% of all primary bone neoplasias. A 59-year-old female patient with unknown comorbidities had a history of headache, visual impairment and dizziness that led to the diagnosis of a clivus tumor. Two resections were attempted through transcranial and transnasal transsphenoidal approach in the last two years in another hospital. The initial MRI scan showed an expansive lesion with T2 hyperintense signal and diffuse, heterogenic contrast enhancement. Clival chordoma was the main diagnostic hypothesis done. A CT scan was performed to evaluate the extent of clival invasion, the sinus anatomy, and the clival destruction - all simulating clival chordoma. The interdisciplinary tumor board decided to proceed with endoscopic endonasal tumor resection. There were no postoperative complications and the histopathological analysis revealed a primary intraosseous haemangioma. Skull base intraosseous hemangiomas are rare entities, with a limited number of case reports found after literature reviews, especially in the clival region. The clinical pattern and imaging characteristics can vary widely according to the tumor extension and development, simulating some other common tumors found at this topography. We present a case report of a clival intraosseous hemangioma presenting as an isolated abducens paresis with a positive outcome after intranasal endoscopic resection after two years of follow-up.

Os hemangiomas intraósseos primários são malformações vasculares benignas raras que representam cerca de 1% de todas as neoplasias ósseas primárias. Uma paciente de 59 anos do sexo feminino com comorbidades desconhecidas história de cefaleia deficiência visual e tontura que levou ao diagnóstico de tumor de clivus. Duas ressecções foram tentadas por via transcraniana e transesfenoidal transnasal nos dois anos anteriores ao presente estudo em outro hospital. A ressonância magnética inicial mostrou lesão expansiva com sinal hiperintenso em T2 e realce difuso e heterogêneo pelo contraste. Cordoma clival foi a principal hipótese diagnóstica. Uma tomografia computadorizada foi realizada para avaliar a extensão da invasão clival a anatomia do seio e a destruição clival - todas simulando cordoma clival. A comissão interdisciplinar do tumor decidiu prosseguir coma ressecção endoscópica do tumor endonasal. Não houve complicações pós-operatórias e a análise histopatológica revelou hemangioma intraósseo primário. Os hemangiomas intraósseos da base do crânio são entidades raras com número limitado de relatos de casos encontrados após revisões da literatura principalmente na região clival. O padrão clínico e as características de imagem podem variar amplamente de acordo com a extensão e desenvolvimento do tumor simulando alguns outros tumores comuns encontrados nesta topografia. Apresentamos um relato de caso de hemangioma clival intraósseo apresentando-se como uma paresia isolada do abducente com evolução positive após ressecção endoscópica intranasal e dois anos de acompanhamento.

Biological identity of orbital cavernous venous malformations

ABSTRACT Vascular anomalies comprise a wide spectrum of clinical manifestations related to disturbances in the blood or lymph vessels. They correspond to mainly tumors (especially hemangiomas), characterized by high mitotic activity and proliferation of the vascular endothelium, and malformations, endowed with normal mitotic activity and no hypercellularity or changes in the rate of cell turnover. However, the classifications of these lesions go beyond this dichotomy and consist various systems adapted for and by different clinical subgroups. Thus, the classifications have not reached a consensus and have historically caused confusion regarding the nomenclatures and definitions. Cavernous venous malformations of the orbit, previously called cavernous hemangiomas, are the most common benign vascular orbital lesions in adults. Herein, we have compiled and discussed the various evidences, including clinical, radiological, morphological, and molecular evidence that indicate the non-neoplastic nature of these lesions.

Giant hepatic hemangioma in a patient with cirrhosis: challenging to manage

ABSTRACT Giant hepatic hemangiomas are occasional in patients with cirrhosis. It remains a challenge to decide on the need for treatment and choose the most appropriate intervention. A 62-year-old woman was recently diagnosed with cirrhosis and complained of upper abdominal fullness, reduction in oral food intake, and weight loss of 6 kg over the last three years. Upper digestive endoscopy evidenced thin-caliber esophageal varices and significant extrinsic compression of the lesser gastric curvature. Abdominal computed tomography revealed an exophytic tumor in the left hepatic lobe, measuring 11.5 cm, which had progressive centripetal contrast enhancement from the arterial phase, compatible with hepatic hemangioma. Serum tumor markers were negative, and her liver function was unimpaired. The patient underwent surgical resection (non-anatomical hepatectomy of segments II and III) which had no immediate complications, and the histopathological evaluation confirmed cavernous hepatic hemangioma. Two weeks later, she was admitted to the emergency room with jaundice, signs of hepatic encephalopathy, and moderate ascites, and was further diagnosed with secondary bacterial peritonitis. As no perforations, abscesses, or fistulas were observed on subsequent imaging tests, clinical management was successfully carried out. This case highlights that giant hepatic hemangiomas may be symptomatic and warrant treatment. In the setting of cirrhosis and portal hypertension, physicians should be aware of the risk of hepatic decompensation following surgical resection, even in patients with Child-Pugh class A.

Oral atenolol compared to oral propranolol for infantile hemangioma. / Atenolol oral comparado con propranolol oral para hemangioma infantil.

Introduction: Infantile hemangioma is the most frequent benign vascular tumor in childhood, with an incidence of 3 to 10%. When patients require treatment, oral propranolol, a non-selective lipophilic beta-blocker, is usually considered the therapy of choice. However, its use has been associated with several adverse events related to its ß-2 action and its ability to cross the blood-brain barrier. Because of this, oral atenolol, a hydrophilic ß-1 receptor-selective beta-blocker, may represent a valid treatment alternative. Nonetheless, there is still controversy regarding the efficacy and safety of atenolol when compared with propranolol as monotherapy for this condition. Methods: We searched Epistemonikos, the largest database of systematic reviews in health science, which is maintained by screening multiple sources of information, including MEDLINE/PubMed, EMBASE, and Cochrane, among others. Data were extracted from the identified reviews, data from the primary studies were analyzed, a meta-analysis was performed, and a summary table of the results was prepared using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) method. Results: Nine systematic reviews were identified, including 10 primary studies and three randomized trials. The three randomized trials were included in the analysis of this investigation. Conclusion: The use of oral atenolol compared with oral propranolol as monotherapies may result in little or no difference in terms of likelihood of complete remission, decrease in Hemangioma Activity Score, likelihood of post-treatment relapse, and risk of adverse events and severe adverse events, in infantile hemangioma (low certainty of evidence).

Introducción: El hemangioma infantil corresponde al tumor vascular benigno más frecuente de la infancia, con una incidencia de 3 a 10%. Entre los pacientes que requieren tratamiento el uso oral de propranolol, un betabloqueador no selectivo de tipo lipofílico, es usualmente considerado como la terapia de elección. Sin embargo, su uso se ha asociado a diversos efectos adversos, relacionados con su acción ß-2, y a su capacidad de cruzar la barrera hematoencefálica. Debido a esto, el uso oral de atenolol, un betabloqueador selectivo de receptores ß-1, de tipo hidrofílico, podría representar una alternativa válida de tratamiento. Sin embargo, aún existe controversia en relación con la eficacia y seguridad del tratamiento con atenolol como monoterapia, en comparación con el uso de propranolol como monoterapia para esta condición. Métodos: Se realizó una búsqueda en Epistemonikos, la mayor base de datos de revisiones sistemáticas en salud, la cual es mantenida mediante el tamizaje de múltiples fuentes de información, incluyendo MEDLINE/PubMed, EMBASE, Cochrane, entre otras. Se extrajeron los datos desde las revisiones identificadas, se analizaron los datos de los estudios primarios, se realizó un metanálisis y se preparó una tabla de resumen de los resultados utilizando el método GRADE. Resultados: Se identificaron nueve revisiones sistemáticas, que en conjunto incluyeron 10 estudios primarios y tres ensayos aleatorizados. Se incluyeron los tres ensayos aleatorizados en el análisis del presente trabajo. Conclusiones: El uso de atenolol oral como monoterapia, comparado con el uso de propranolol oral como monoterapia, podría resultar en poca o nula diferencia en cuanto a la probabilidad de remisión completa, la disminución del , la probabilidad de recaída posterior al tratamiento y el riesgo de presentar efectos adversos y efectos adversos severos, en el hemangioma infantil (certeza de la evidencia baja).

Aggressive Diffuse Intraosseous Hemangioma: Case Report.

Vertebral hemangioma is a benign vascular tumor that is usually asymptomatic and is discovered incidentally on imaging. When symptomatic, the most frequent presentation occurs in the form of vague back pain of insidious onset and, in rare cases, may be associated with root or spinal compression, causing sensory and motor deficits. The authors report the case of a 33-year-old man, previously healthy, with a diagnosis of thoracic spine hemangioma at multiple levels, in the sternum, in the scapula and in the costal arches; all lesions were symptomatic, and surgical intervention was required; one of the lesions at the thoracic spine level evolved with spinal compression and acute neurological deficit, requiring urgent surgical intervention. Intraosseous hemangiomas represent < 1% of all bone tumors, having few reports of multifocal presentation in the axial and appendicular skeleton. In the literature review, no other case of aggressive multifocal intraosseous hemangioma with this presentation was found, including associated neurological symptoms in the same case.