Endoscopic Submucosal Dissection: A Safe and Effective Alternative to Surgical Intervention for Esophageal Hemangioma.

BACKGROUND: Hemangiomas represent 3% of all benign esophageal tumors. Conventional esophagectomy is the standard treatment with its invasive nature and possible surgical complications. Now, less invasive techniques are used with better results. Endoscopic submucosal dissection (ESD) is one of the novel noninvasive methods used for en bloc removal of tumors. No available data about the use of ESD in removing esophageal hemangioma. Here, we studied the validity and safety of ESD as a minimally invasive procedure to remove esophageal hemangioma. METHODS: Three patients were diagnosed with esophageal hemangioma and underwent ESD with en bloc resection. Endoscopic ultrasound (EUS) was performed before ESD to better evaluate the layer of origin and vascularity and guard against perforation. Patients were followed up postintervention to document possible complications. RESULTS: Among the 3 studied patients, one presented with chronic abdominal pain, the second was complaining of dysphagia, and the third patient was diagnosed accidentally. Pathology reports confirmed the diagnosis of hemangiomas in all cases with no atypia and complete removal of the lesions. No complications were reported during the procedure or over the follow-up period. CONCLUSIONS: ESD is a proper, minimally invasive method with good en bloc resection that can be used in cases of esophageal hemangiomas.

Basal cell carcinoma arising at the site of a previously irradiated infantile hemangioma.

We describe a case of a previously irradiated infantile hemangioma in a patient 1 year of age. At the age of 78, the patient presented with a pink, pearly plaque at the previously irradiated infantile hemangioma site and was found to have a nodular basal cell carcinoma. [Correction added on 30 August 2023, after first online publication: In the preceding sentence, patient age has been corrected in this version] This case highlights the rare, but long-term risks of radiation therapy for hemangiomas, but also presents an interesting historical vignette in dermatological treatments, with photographic documentation. It also represents the longest time interval between irradiation of an infantile hemangioma and the development of a basal cell skin cancer, 70 years in this case.

Relevancia clínica de los angiomas en cereza / Clinical Relevance of Cherry Angiomas

Los angiomas en cereza son los tumores vasculares cutáneos más frecuentes. Son muy prevalentes en la población general y esta prevalencia aumenta con la edad. Aunque, en sus primeras descripciones en la literatura, a finales del siglo XIX, se relacionaron con el cáncer, dicha asociación no pudo demostrarse posteriormente por lo que, durante muchas décadas, se han considerado unas lesiones asociadas al proceso del envejecimiento sin otro significado clínico particular. Sin embargo, en los últimos años, han sido objeto de un mayor interés al ser publicados algunos estudios que muestran una asociación con la exposición a diversos tóxicos y fármacos, enfermedades malignas y no malignas y la inmunosupresión que pueden ayudar a conocer mejor su etiopatogenia y su relevancia clínica (AU)

Cherry angiomas are the most common vascular tumors of the skin. They are particularly prevalent in the general population and become more common with age. Although an association with cancer was suggested at the end of the 19th century, when these tumors were first described, it could not be demonstrated. For many decades, therefore, cherry angiomas were considered to have no clinical relevance other than their association with age. A number of studies in recent years, however, have shown a link between cherry angiomas and exposure to various toxic substances and medications, benign and malignant diseases, and immunosuppression, rekindling interest in these lesions and providing clues for a better understanding of their etiology, pathophysiology, and clinical relevance (AU)

[Translated article] Clinical Relevance of Cherry Angiomas / Relevancia clínica de los angiomas en cereza

Cherry angiomas are the most common vascular tumors of the skin. They are particularly prevalent in the general population and become more common with age. Although an association with cancer was suggested at the end of the 19th century, when these tumors were first described, it could not be demonstrated. For many decades, therefore, cherry angiomas were considered to have no clinical relevance other than their association with age. A number of studies in recent years, however, have shown a link between cherry angiomas and exposure to various toxic substances and medications, benign and malignant diseases, and immunosuppression, rekindling interest in these lesions and providing clues for a better understanding of their etiology, pathophysiology, and clinical relevance (AU)

Los angiomas en cereza son los tumores vasculares cutáneos más frecuentes. Son muy prevalentes en la población general y esta prevalencia aumenta con la edad. Aunque, en sus primeras descripciones en la literatura, a finales del siglo XIX, se relacionaron con el cáncer, dicha asociación no pudo demostrarse posteriormente por lo que, durante muchas décadas, se han considerado unas lesiones asociadas al proceso del envejecimiento sin otro significado clínico particular. Sin embargo, en los últimos años, han sido objeto de un mayor interés al ser publicados algunos estudios que muestran una asociación con la exposición a diversos tóxicos y fármacos, enfermedades malignas y no malignas y la inmunosupresión que pueden ayudar a conocer mejor su etiopatogenia y su relevancia clínica (AU)

Multicenter retrospective review of pulsed dye laser in nonulcerated infantile hemangioma.

BACKGROUND/OBJECTIVES: We sought to describe the experience among members of the Hemangioma Investigator Group with pulsed dye laser (PDL) in the treatment of nonulcerated infantile hemangioma (IH) in pediatric patients in the pre- and post-beta-blocker era. METHODS: A multicenter retrospective cohort study was conducted in patients with nonulcerated IH treated with laser therapy. Patient demographics, IH characteristics, indications for/timing of laser therapy, as well as laser parameters were collected. Responses to laser therapy were evaluated using a visual analog scale (VAS). RESULTS: One hundred and seventeen patients with IH were treated with PDL. 18/117 (15.4%) had early intervention (defined as <12 months of life), and 99/117 (84.6%) had late intervention (≥12 months of life). In the late intervention group, 73.7% (73/99) had additional medical management of their IH. The mean age at PDL initiation for the late intervention group was 46.7 ± 35.3 months of life (range 12-172 months) with total number of treatments to maximal clearing of 4.2 ± 2.8 (range 1-17). Those who received propranolol prior to PDL received fewer sessions (1.1 fewer sessions, approaching significance [p = .056]).     On the VAS, there was a mean 85% overall improvement compared to baseline (range 18%-100%), with most improvement noted in erythema and/or telangiectasias. The incidence of adverse effects was 6/99 (6.1%). CONCLUSIONS: PDL is a useful tool in the treatment of IH, with notable improvement of telangiectasia and erythema and low risk of complications.   PDL is often introduced after the maximal proliferative phase.

Optimizing parameters of the Pulsed Dye Laser (PDL, 585-nm) for hemangioma treatment using diffuse reflectance spectroscopy.

INTRODUCTION: The lack of objectivity options for a specific individualized therapy might cause challenges in laser treatment. In other words, we need optimally determined laser parameters for less side effects. Generally, laser treatment procedures seem to be subjective. Then, the final evaluation of the patient needs for optimized better response with less laser sections and less side effects. Therefore, employing a reliable objective technique seems to be essential for better response with less laser treatment sessions and also less side effects. METHOD: In this research, UV-visible diffused reflection spectra from normal skin and a lesion were taken. We obtained the differences in absorption intensity at 575 nm, the wavelength corresponds to the absorption peak of blood oxyhemoglobin for normal skin and hemangioma. To calibrate the measurements, after using pulsed dye laser (PDL at 585 nm), the PDL treatment response of the patients were graded as "good (>50%), moderate(25%-50%), and poor (0%-25%)," by a specialist. Finally, patients were categorized based on the energy of the laser for the best treatment response to propose the recommended laser parameters. RESULTS: Based on the differences in the absorption peak hemangioma compare with normal skin, the energy density of PDL for a good treatment response of hemangioma was obtained at peak wavelength 575 nm. CONCLUSION: The analysis of optical reflection spectroscopy can assess the correlation of absorption peak differences of vascular lesions and normal skin. According to this data, it seems to be effective in optimizing lasers parameters for the hemangioma treatment.

Hemangioma gigante da parede torácica: localização atípica

Management of Myelopathy due to Anterior Soft-Tissue Compression in Vertebral Hemangioma.

OBJECTIVE: Vertebral hemangiomas are benign but highly vascular lesions and are one of the most common lesions of the vertebral column. Anterior soft-tissue compression of spinal cord due to vertebral body hemangioma is challenging to manage. Our objective was to assess long-term clinical and radiologic effects of direct transpedicular absolute alcohol embolization, laminectomy, and short-segment instrumented fusion on resolution of extraosseous epidural soft tissue and improvement in myelopathy in cases of vertebral hemangioma causing anterior soft-tissue compression. MATERIALS AND METHODS: This was a retrospective analysis that included patients with single-level vertebral hemangioma with anterior intraspinal soft-tissue growth causing spinal cord compression and clinical features of myelopathy between June 2007 and June 2019 at authors' institute. Transpedicular vertebral body injection of absolute alcohol, laminectomy, and pedicle screw rod instrumentation was performed in all patients. Clinicoradiologic outcomes of surgery were noted. We proposed a grading system for the extent of anterior extraosseous epidural soft-tissue compression. RESULTS: In total, 14 patients were included in study. Their mean age was 28.4 ± 14.4 years. Mean follow-up duration was 67.5 ± 36.2 months. All patients had preoperative radiologic grade 4 compression. Postoperative radiologic grading improved to grade 1 in 4 (28.6%), grade 2 in 8 (57.1%), and grade 3 in 2 (14.3%). All the patients improved neurologically after surgery. Eleven patients improved to American Spinal Injury Association (ASIA) grade E, 2 improved to ASIA D, and 1 improved to ASIA C at the last follow-up visit. CONCLUSIONS: Vertebral hemangiomas with anterior extraosseous epidural extension causing spinal canal compromise and myelopathy can be managed with direct transpedicular ethanol embolization, laminectomy, and short-segment instrumented fusion with resolution of the extraosseous soft tissue and improvement in myelopathy. The procedure is relatively simple, cost effective, and has a good outcome.

Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome.

Background: Diffuse choroidal hemangioma (DCH) is a benign vascular tumor that is characteristically found in the Sturge-Weber syndrome (SWS). Recent genetic discoveries demonstrate that DCH occurs sporadically from an activating mutation in GNAQ at codon R183. Mutations in GNAQ or GNA11 result in dysregulation of the mitogen-activated protein kinase, which influences gene transcription and results in cellular proliferation. DCH may not always be readily detected on routine ophthalmological examination, consequently diagnosis and multidisciplinary referral are often delayed.Purpose: A literature search was performed through April 2020 without a lower date limit. This review will summarize the pathogenesis, diagnosis and management of DCH.Discussion: Multimodal imaging facilitates early detection of the condition. In particular, enhanced depth imaging spectral domain optical coherence tomography enables non-invasive, high-resolution visualization of the choroid to even detect mild choroidal thickening. Management of symptomatic DCH is generally difficult and results in poor visual outcome, thus, treatment is generally unwarranted, unless the hemangioma complicated by serous retinal detachment. The main treatment method is radiation therapy with external beam radiation therapy, proton beam therapy, plaque brachytherapy, and gamma knife surgery where low doses of radiation entail fewer complications. One method of alternative management is with photodynamic therapy that, although less invasive with a lower rate of complications, is not always feasible or effective in cases with extensive exudative retinal detachment.Conclusions: Multimodal ophthalmological imaging facilitates diagnosis of DCH and lifelong surveillance is essential in patients.

Hypoxia-Induced Cyr61/CCN1 Production in Infantile Hemangioma.

BACKGROUND: Hypoxia may play a role in the pathogenesis of infantile hemangioma. Cysteine-rich angiogenic inducer 61 (Cyr61), or CCN1, can be induced under hypoxic conditions in several types of cells. However, whether CCN1 has any impact on infantile hemangioma remains unknown. This study aims to explore the expression of CCN1 in infantile hemangioma and to investigate the effect of hypoxia on CCN1 and vascular endothelial growth factor-A (VEGF-A) production. METHODS: Hemangioma-derived endothelial cells and hemangioma-derived stem cells were isolated from surgical specimens of proliferative infantile hemangioma. RNA extracted from infantile hemangioma tissue, hemangioma-derived endothelial cells, and hemangioma-derived stem cells was used to analyze gene expression by real-time polymerase chain reaction. The effects of CCN1 blockade were examined in hemangioma-derived stem cells. Immunostaining, immunoblotting, and enzyme-linked immunosorbent assays were used to assess protein expression. RESULTS: By double-label immunofluorescence staining, the authors first identified that CCN1 was abundant in proliferative infantile hemangioma lesions and colocalized well with immature microvessels. The authors found that the mRNA level of CCN1 in proliferative infantile hemangioma was significantly higher than in healthy controls, as was involuting infantile hemangioma. Treatment with the hypoxia inducer cobalt chloride dramatically increased CCN1 production in hemangioma-derived endothelial cells in a time-dependent manner. Furthermore, blocking or knockdown of CCN1 expression reduced the expression of VEGF-A in hemangioma-derived stem cells. Lastly, the signaling pathway study showed that CCN1 up-regulation of VEGF-A synthesis in hemangioma-derived stem cells depends on nuclear factor-κB and JNK activation. CONCLUSIONS: These findings provide new evidence that CCN1 participates in the crosstalk between hemangioma-derived endothelial cells and hemangioma-derived stem cells through promoting VEGF-A expression in the hypoxic environment of infantile hemangioma angiogenesis and vasculogenesis. Targeting of CCN1 might be a novel therapeutic strategy for infantile hemangioma.

[Sturge-Weber syndrome: about a case]. / Le syndrome Sturge-Weber: à propos d'un cas.

Sturge-Weber syndrome (SWS) or encephalofacial angiomatosis is a rare neurocutaneous and congenital ocular syndrome. It can cause two malformations: congenital facial capillary planar angioma and leptomeningal venous-capillary angioma (most often parieto-occipital homolateral angioma). Neuroimaging, in particular magnetic resonance imaging (MRI), plays an important role in the diagnosis, ideally before the occurrence of neuro-ocular complications. We report the case of a child in whom SWS was suspected based on facial angioma and pharmaco-resistant epilepsy.

Infantile and congenital hemangiomas.

Infantile hemangiomas (IHs) are the most common benign tumors of infancy. They typically appear after birth and undergo a period of rapid growth, followed by a gradual period of involution. Although the majority of IHs do not requirement treatment, oral propranolol is the first-line therapy for lesions that are at risk for life-threatening complications, functional impairment, ulceration, or permanent disfigurement. Rarely, IHs can be associated with structural anomalies. Congenital hemangiomas (CHs) are a distinct clinical entity, caused by a point mutation in GNAQ or GNA11. These lesions are typically present at birth and display a wide spectrum of clinical presentations. CHs can be distinguished from IHs by their unique histologic and radiographic features. Given the high-flow vascularity of CHs, surgical excision may be indicated due to the high risk of bleeding.

Cutaneous Manifestations of Chronic Liver Disease.

Given the visibility of cutaneous findings, skin manifestations are often a presenting symptom of underlying systemic disease, including chronic liver disease. Many cutaneous signs and symptoms that correlate with chronic liver disease are common physical examination findings in patients with no history of liver disease. It is nonetheless important to be aware that these cutaneous findings may be an indication of underlying liver disease and often occur in the setting of such hepatic dysfunction. This article covers general cutaneous signs that may correlate with various liver diseases and describes specific cutaneous signs as they relate to more specific liver diseases.

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

BACKGROUND: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. CASE: Here, we report two siblings with dysmorphic features, growth retardation, microcephaly, intractable epilepsy, and hemangioma in the frontal, occipital and lumbosacral regions. RESULTS: We studied two siblings by whole exome sequencing. A pathogenic variant in ALG3 (NM_005787.6: c.165C > T; p.Gly55=) that had been previously associated with congenital glycolysis defect type 1d was identified. Their intractable seizures were controlled by ketogenic diet. CONCLUSION: Although prominent findings of growth retardation and microcephaly seen in our patients have been extensively reported before, presence of hemangioma is a novel finding that may be used as an indication for ALG3-CDG diagnosis. Our patients are the first reported cases whose intractable seizures were controlled with ketogenic diet. This report adds ketogenic diet as an option for treatment of intractable epilepsy in ALG3-CDG.

Incidence of Sturge-Weber syndrome and associated ocular involvement in Olmsted County, Minnesota, United States.

Background: Sturge-Weber syndrome (SWS) is a rare sporadic syndrome characterized by nevus flammeus (port-wine stain, PWS) in the trigeminal nerve distribution, diffuse choroidal hemangioma, and brain leptomeningeal hemangioma. We are unaware of previous reports of SWS incidence in the United States. This study investigated SWS incidence and associated ocular involvement in Olmsted County, Minnesota.Materials and methods: The Rochester Epidemiology Project database was used to identify SWS cases from January 1, 2000-December 31, 2017. Incidence of SWS was calculated using the Olmsted County census population. A literature review of studies investigating SWS-associated ocular involvement was also performed.Results: There were 13 patients with SWS in Olmsted County classified as type 1 (31%) or type 2 (69%). Age and sex-adjusted incidence of SWS was 0.19/100,000/year. Race was predominantly Caucasian (85%), with sex female (69%) or male (31%). All patients had PWS, mostly with unilateral distribution in the V1 and/or V2 region (85%). Two cases (15%) had associated Klippel-Trenaunay syndrome. The most common ocular features included: dilated episcleral vessels (46%), glaucoma (46%), retinal detachment (23%), DCH (7.7%), strabismus (31%), and refractive error (38%). PWS in the V1 distribution was associated with all cases of glaucoma, DCH, and neurological involvement. Severe visual impairment (>0.6 LogMAR, Snellen equivalent ≤20/100) was found in (23%) at final follow-up, and one patient (8%) required enucleation for uncontrolled glaucoma.Conclusions: SWS affects approximately 0.19/100,000/year in Olmsted County. Early diagnosis, intervention, lifelong follow-up, and multidisciplinary approach should be used to optimize systemic and ocular outcomes.