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Generalized lymphatic anomaly (GLA), previously known as lymphangiomatosis, is a rare developmental disease characterized by abnormal proliferation of lymphatic vascular structures that may involve the dermis, soft tissue, bone, and visceral parenchyma. Being an uncommon condition and the lack of specific symptoms often result in a delayed diagnosis or even misdiagnosis, which, in addition to its progressive nature, can lead to dysfunction of vital organs, and ultimately, a poor prognosis. In this report, we present a unique case of GLA in an upper Egyptian female child. Increasing awareness of the possible phenotypic presentations of such anomalies can lead to early diagnosis and possibly more effective management before significant organ damage ensues. [ABSTRACT FROM AUTHOR]

Background: Pulmonary capillary hemangiomatosis (PCH) is an idiopathic disease with the anomalous proliferation of a small capillary-like vessel in the pulmonary tissue, which can lead to a severe form of PH. There are only several cases of PCH described in veterinary literature: 27 cases in dogs and 2 cases in cats. In veterinary medicine, PH is mostly recognized as a consequence of left heart failure as a progression of the postcapillary PH to the precapillary form. PCH is mostly described as a primary disease, but resistant postcapillary PH with the high possibility of pulmonary edema raises speculation that PCH could be a secondary malformation to the left heart disease. Aim: Discover the features associated with the shift between left- and right-sided heart disease in the context of PH development. Methods: Retrospective analysis of materials from cats and dogs with histological markers of PCH (sPCH) versus those with right heart failure (RHF). Results: Animals with histological and immunohistochemistry markers of PCH had a previous history of disease with left heart volume overload. There were no differences between the groups in radiography and gross pathology. Histologically, pulmonary fibrosis and arteriopathy could be found in RHF; in sPCH--a duplication of capillaries in alveolar septa and bizarre proliferation in surrounding structures. Conclusion: PCH could be a secondary pattern of vascular remodeling due to volume overload. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated. Because a subset of MAM are associated with meningiomas, some authors argue that MAM corresponds to an infiltration pattern of these tumors. For these reasons, MAM has not been added to the World Health Organization (WHO) Classification of Central Nervous System Tumors as a specific entity. In the present study, we characterized a series of pure MAM (n = 7) and MAM associated with meningiomas (n = 4) using histopathology, immunohistochemistry, genetic (fluorescent in situ and DNA sequencing analyses), and epigenetic (DNA‐methylation profiling) data. We evidenced two distinct morphological patterns: MAM with a fibroblastic‐like pattern having few lesional cells, and MAM with a more cellular pattern. A subset was associated with the genetic alterations previously reported in meningiomas (such as a KMT2C mutation and a hemizygous deletion of chromosome 22q including the NF2 gene). The DNA‐methylation profile, using a t‐distributed stochastic neighbor embedding analysis, evidenced that MAM (pure or associated with meningiomas) clustered in a separate group from pediatric meningiomas. The present results seem to suggest that MAM represents a neoplastic lesion and encourage the further study of similar additional series so that it may be included in a future WHO classification. [ABSTRACT FROM AUTHOR]

Background: Diffuse neonatal hemangiomatosis (DNH) is a rare disorder typically recognized at birth or during the neonatal period. DNH involves three or more organ systems, including the central nervous system (CNS). In these cases, serious complications such as hemorrhages and obstructive hydrocephalus can develop. Case report: We present a case of DNH with intracranial hypertension and CNS hemorrhagic lesions on the mesencephalic aqueduct, resulting in triventricular hydrocephalus, treated with endoscopic ventriculocisternostomy (ETV) and medical therapy. Discussion: DNH is a rare condition that can involve the CNS with serious complications. From a review of the literature, we highlighted only two cases of DNH with brain involvement treated surgically. We report the successful outcome of ETV, along with surgical considerations, imaging findings, and the complete resolution of cerebral and skin lesions following medical therapy. Conclusions: Medical therapy is not standardized and must be individualized. In patients who develop severe neurological symptoms such as obstructive hydrocephalus, surgery may be considered to avoid neurological sequelae. [ABSTRACT FROM AUTHOR]

• Consider cutaneous bacillary angiomatosis in mildly immunocompromised patients. • There are uncertainties about the best antibiotic treatment and its duration. • Validation and use of molecular methods can improve diagnosis and therapy outcomes. Cutaneous bacillary angiomatosis (cBA) is a vascular proliferative disorder due to Bartonella henselae or Bartonella quintana that has been mostly described in people living with HIV. Since cBA is considered to be rare in hosts not affected by major immunosuppression, it could be underdiagnosed in this population. Moreover, antimicrobial treatment of cBA has been poorly validated, thus reporting experiences on this clinical entity is important. We reported a challenging and well-characterized case of an Italian 67-year-old gentleman without a history of major immunocompromizing conditions, although he was affected by conditions that can be associated with impaired immune function. The patient reported herein was diagnosed after a long time since the initiation of symptoms and was successfully treated with combined antibiotic therapy including macrolides and quinolones under the guidance of molecular test results. Physicians should consider cBA as a possible manifestation of Bartonella spp. Infection in patients not suffering from major immunocompromizing conditions. Until evidence-based guidelines are available, molecular tests together with severity and extension of the disease can be useful to personalize the type of treatment and its duration. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Proteus syndrome is a rare genetic disease characterized by an asymmetrical growth of individual parts of the body and has only been described in single cases. This patient presented with recurrent manifestations of a laryngeal and hypopharyngeal lymphangioma, which were treated with laser surgery, systemic therapy, and sclerotherapy. The reported data depict the diagnosis and treatment in the department of otorhinolaryngology, head and neck surgery of the university hospital Heidelberg from 2019 until May 2023. The recurrent endoscopy of the upper airway was performed using a flexible HD‐endoscope and the Visera Elite video tower from Olympus, Hamburg. The 29‐year old female patient initially presented in February 2019 with stridor and exertional dyspnea due to a lymphatic malformation of the left larynx and hypopharynx. In April 2019 there was no improvement by sclerotherapy with Picibanil, so that systemic therapy with the PIK3CA inhibitor alpelisib was initiated (03–07/2020) and discontinued due to a high side effect profile. In the course of 2021–2023, three microlaryngoscopies with laser surgical resection and renewed sclerotherapy of the lymphangioma with Picibanil were carried out due to fluctuating findings. After these interventions a stable disease could be established until May 2023. Laser surgical therapy is currently described as the therapy of choice in lymphangiomas in the head and neck region and also showed the highest effectiveness in our patient. In case of airway obstruction in particular, it can bring rapid symptom relief. Alternatively, and with a lower surgical risk, local improvements have been reported by sclerotherapy, which was less effective in the presented case. Rare syndromic diseases require multidisciplinary collaboration. In the case of laryngeal lymphangiomatosis, other treatment options should be considered in addition to surgical excision, especially in the case of recurrence. [ABSTRACT FROM AUTHOR]

Bovine cutaneous angiomatosis (BCA) is a rare condition characterized by vasoproliferative skin lesions mainly affecting cattle in the northern hemisphere. An eight-month-old Holstein heifer showed two skin easy-bleeding nodules bulging from the epidermis in the forehead and close to the right prescapular region. Skin lesions were within the dermis and had an irregular surface and a soft heterogeneous reddish parenchyma composed of numerous variable-sized arterioles, veins, and capillaries surrounded by abundant collagenous fibrous tissue. Immunohistochemical assays evidenced endothelial cells lining proliferative vascular structure immunolabeled for CD31 and Von Willebrand factor, and vascular smooth muscle cells immunostained for smooth muscle actin. All clinical, pathological, and immunohistochemical features observed in the Holstein heifer were hallmarks of BCA. Considering its potential for hereditary spread, BCA must be included in the differential diagnosis of easily bleeding skin nodules that do not respond to routine topical wound treatments to prevent its spread in Brazilian herds. [ABSTRACT FROM AUTHOR]

Diffuse cerebral angiomatosis (DCA) is a diffuse infiltration of normal brain by complex vascular structures. It differs from arteriovenous malformations (AVMs) that are composed of a nidus of vessels through which arteriovenous shunting occurs without interposed functional brain parenchyma. A rare subgroup of AVMs is diffuse with no recognizable nidus with functional neuronal tissue interspersed within the malformed vessels. We present a rare association of DCA and cerebral arterial aneurysm, which dramatically influenced the patient's prognosis. A 43-year-old male patient with right hemispheric diffuse cerebral angiomatosis presented with a ruptured basilar tip aneurysm that was successfully embolised. Unfortunately, the patient developed a locked-in syndrome. The present report shows a possible association between diffuse cerebral angiomatosis and cerebral aneurysms, but this association appears to be less strong than it is with other AVMs. [ABSTRACT FROM AUTHOR]

Objective: To investigate the clinicopathological features of children with Sturge–Weber syndrome and to analyze the correlation between the distribution area of leptomeningeal angiomatosis, the degree of cerebral cortical calcification, and the degree of cerebral atrophy associated with epileptic seizures. Methods: 10 children were diagnosed with SWS with FCD IIIc by histopathology and immunohistochemistry. Spearman correlation analysis was used to calculate the association of SWS with FCD IIIc and seizures in children. Results: The leptomeningeal angiomatosis area was markedly positively correlated with the degree of brain atrophy in 10 children with SWS (r = 0.783, p = 0.007). The distribution of leptomeningeal hemangiomatosis, the degree of cortical calcification, and brain atrophy were not significantly correlated with epilepsy. Conclusion: SWS may be accompanied by FCD IIIc. The more extensive the cerebral lobes of leptomeningeal angiomatosis in SWS, the more pronounced the brain atrophy. [ABSTRACT FROM AUTHOR]

Purpose: This PRISMA-compliant systematic review aimed to assess risks and benefits of sirolimus treatment for paediatric lymphatic malformations by focusing not only on treatment efficacy but also on possible treatment-related adverse events, and treatment combinations with other techniques. Methods: Search criteria were applied to MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases and included all studies published up to March 2022 reporting paediatric lymphatic malformations treated with sirolimus. We selected all original studies that included treatment outcomes. After the removal of duplicates, selection of abstracts and full-text articles, and quality assessment, we reviewed eligible articles for patient demographics, lymphatic malformation type, size or stage, site, clinical response rates, sirolimus administration route and dose, related adverse events, follow-up time, and concurrent treatments. Results: Among 153 unique citations, 19 studies were considered eligible, with reported treatment data for 97 paediatric patients. Most studies (n = 9) were case reports. Clinical response was described for 89 patients, in whom 94 mild-to-moderate adverse events were reported. The most frequently administered treatment regimen was oral sirolimus 0.8 mg/m2 twice a day, with the aim of achieving a blood concentration of 10–15 ng/mL. Conclusion: Despite promising results for sirolimus treatment in lymphatic malformation, the efficacy and safety profile of remains unclear due to the lack of high-quality studies. Systematic reporting of known side effects, especially in younger children, should assist clinicians in minimising treatment-associated risks. At the same time, we advocate for prospective multicentre studies with minimum reporting standards to facilitate improved candidate selection. [ABSTRACT FROM AUTHOR]

Bacillary angiomatosis is a neovascular proliferative condition caused by the Bartonella group of opportunistic bacteria, commonly occurring in patients with advanced Human Immunodeficiency Virus (HIV) and other immunocompromised conditions. However, cases have also been reported to occur rarely in immunocompetent individuals. Skin lesions such as nodules and papules are the most common manifestations, although cases have been rarely reported in other sites such as the oral cavity, respiratory tract, gastrointestinal tract, and bones. Isolated lymph node involvement or systemic manifestations such as fever, chills, anorexia, and weight loss are very rare. Since Bartonella is a fastidious Gram-negative bacterium that is difficult to grow and isolate in culture, diagnosis relies on histological examination of the affected organ/tissue and demonstration of the causative bacteria using special stains such as Warthin-Starry, Giemsa, Gram's, and silver stains. Herein, the authors presented a case of bacillary angiomatosis in a 14-year-old immunocompetent adolescent male who presented with recurrent fever and painful enlargement of the axillary lymph nodes. The case is notable for its unusual clinical manifestations of systemic symptoms, specifically anorexia and significant weight loss, leading to suspicion of malignancy. Following the establishment of the diagnosis, the boy experienced complete recovery, with regained appetite and weight, following treatment with a long duration of antibiotics. [ABSTRACT FROM AUTHOR]

Sturge-Weber syndrome is a congenital, neurocutaneous disorder, with an incidence of 1 in 20,000 - 50,000 births, characterized by a port wine-colored facial and scalp patch, leptomeningeal angiomatosis and glaucoma, caused by a change in the GNAQ gene on chromosome 9 (9q21.2). It has no clear genetic pattern so there is no direct evidence of hereditary predisposition. Early diagnosis is necessary as there may be complications such as glaucoma, vascular stenosis, epilepsy, neurological and neurocognitive impairment. This article aims to describe the case of a rare syndrome, its clinical manifestations and treatment. Case report: 8-year-old male patient with a history of seizures since 7 months of age associated with Sturge Weber syndrome, treated with oxcarbazepine and phenobarbital. At the age of 3 years, during his hospitalization, he presented several tonic-clonic seizures, cardiorespiratory arrest and was started with advanced CPR for two minutes. Brain angioresonance was performed, which reported angiomatosis in left sigmoid sinuses and encephalic magnetic resonance imaging, which reported left temporal parietal occipital cortical atrophy associated with linear and nodular millimetric calcifications. Thanks to current research it is known that the syndrome is produced by a mutation in the GNAQ gene, however, its etiology is not yet proven. The development of this clinical case provides important information on the onset and clinical course of WSS manifested by facial angioma, glaucoma and seizures at an early age. [ABSTRACT FROM AUTHOR]

The skin represents an indicator of an animal's health status. Causes of cutaneous diseases in fish most often trace back to biological agents. However, fish skin diseases can also arise from a complex interaction of infectious and non‐infectious causes, making it more difficult to identify a specific aetiology. In the period between April and September of the years 2019–2022, four koi carp (Cyprinus carpio koi) from two European countries presented with multifocal, irregularly round, few mm to 1 cm, variably raised cutaneous reddened areas. The fish displayed good general condition. Cutaneous samples, investigated by microbiological and molecular methods and microscopy, did not indicate a primary pathogenic agent. Gross and histological findings of the cutaneous biopsies were consistent with a multifocal/reactive process centred on dermal vessels. The histological features were reminiscent of angiomatosis, a benign proliferative condition affecting the dermal vessels of mammals, including human patients. The clinical–pathological presentation and the dermatologic condition that affected the koi carp are discussed and compared with the veterinary and human literature. [ABSTRACT FROM AUTHOR]

Pulmonary capillary hemangiomatosis (PCH) is a rare cause of pulmonary hypertension. We reported a histologically confirmed PCH in a 42-yr-old lady. She presented a progressive dyspnea and cough after an upper respiratory tract infection. She had a leukocytosis and elevated ESR with negative collagen vascular laboratory results. Her chest imaging revealed mediastinal lymphadenopathy with bilateral ground glass opacities with increased interstitial septal thickening in lung parenchyma. Patient echocardiography showed severe right ventricular dilatation with a measured systolic pulmonary arterial pressure of about 105mmHg. Right heart catheterization revealed a mean pulmonary arterial pressure on 30 mmHg with a pulmonary capillary wedge pressure of about 7 mmHg. After starting anti PH treatment, the patient suffered a pulmonary edema and due to abnormal patient response to anti-PH therapies and radiologic findings. Finally, open lung biopsy was performed and showed features of pulmonary capillary hemangiomatosis. [ABSTRACT FROM AUTHOR]

The Sturge-Webber syndrome is a rare genetic condition of the phacomatosis disorders group. Most of the symptoms are linked to nervous, circulatory and cutaneous system. Neuropsychiatric symptoms may be part of the clinical presentation but they are mostly represented by low to moderate cognitive and affective disruptions. Still, in Sturge-Webber children, familial, environmental and educational influences may impact the child's development. This article will present the case of a 15-years old child, addressed by the authorities to the child forensic psychiatric board, after the family declared they are no longer able to control the violent behavior the child expresses. Giving the Sturge-Webber syndrome diagnostic, a proper analysis of discernment and the connection between the somatic disorder and behavioral disruptions should be investigated. Also, the child has been expelled from various educational institution due to severe aggressive manifestations towards teachers, authority and inside the peer group. Multiple organic, psychiatric and psychologic investigation revealed that the boy presented a violent defiant and oppositional behavior, with sadistic elements, with no apparent emotional drive, lacking real remorse and consideration for the true implications of his actions. Discernment was present although the organic pathology may be considered a substrate for the behavioral disorder. Still, the unemotional trait and severe violence seem to be unrelated to the somatic background. The legal and socio-educational implications are important in this case, as the child's responsibility is being refused by educational institutions and the child's family thus, the future social insertion and development prognosis, remains poor. [ABSTRACT FROM AUTHOR]

Objective: We explored the frequency of TP53 gene mutations in chorangiomas (CA) and chorangiomatosis (CM). Materials and -methods: By Sanger sequencing, we evaluated mutations in exons 4-6 of the TP53 gene in CM and CA regions of placentas. Results: In total, 7/11(63.6%) CAs and 24/26 (92.3%) CMs had TP53 mutations, with a significantly higher frequency in the latter. Mutations in both groups predominately involved exon 4, most commonly at the 119th C. The mutation types at the 119th C were C/G and G/G. Among the patients with exon 4 mutations at the 119th C, C/G mutations, the most common type, were observed more frequently in the CM group (63.16%, 12/19) than in the CA group (14.29%, 1/7), and the difference was significant. Conclusion: It is suggested that both CM and CA are tumors rather than tumor-like lesions. Although they are histologically similar, they have a different TP53 profile. [ABSTRACT FROM AUTHOR]

Familial glomangiomatosis is a rare autosomal dominant vascular malformation caused by a mutation in the glomulin GLMN gene. It is characterized by the appearance of multiple glomus tumors composed of dysmature veins surrounded by glomus cells. We present a case of an 11-year-old girl with familial glomangiomatosis successfully treated with Nd:YAG long-pulse laser. Three sessions of laser treatment were performed, resulting in more than 80% reduction of the lesion and complete disappearance of pain, with no adverse effects reported. This case report demonstrates the excellent risk-benefit ratio of Nd:YAG long-pulse laser in the treatment of familial glomangiomatosis. [ABSTRACT FROM AUTHOR]

Giant congenital melanocytic nevi (GCMN) can be cosmetically significant and can lead to melanoma. There is no standard pharmacologic treatment for GCMN. We present the case of an 8‐year‐old female with kaposiform lymphangiomatosis caused by an NRAS mutation whose nevus spilus‐type GCMN improved on oral selumetinib. [ABSTRACT FROM AUTHOR]

Biopsies of the left iliac bone and a repeat liver biopsy also showed similar areas of vascular proliferation. Keywords: cystic angiomatosis; liver; spleen; bone EN cystic angiomatosis liver spleen bone 579 581 3 07/04/23 20230801 NES 230801 A 24 year old incarcerated man with history of polysubstance abuse (methamphetamines and opiates) and untreated hepatitis C presented to the emergency department with acute right upper quadrant abdominal pain. Cystic angiomatosis, liver, spleen, bone. [Extracted from the article]

Meningioangiomatosis (MA) is a rare, poorly studied brain hamartomatous lesion, the etiology of which is not fully elucidated. It typically involves the leptomeninges, extending to the underlying cortex, characterized by small vessel proliferation, perivascular cuffing, and scattered calcifications. Given its close proximity to, or direct involvement of, the cerebral cortex, MA lesions typically manifest in younger patients as recurrent episodes of refractory seizures, comprising approximately 0.6% of operated-on intractable epileptic lesions. Due to the absence of characteristic radiological features, MA lesions constitute a significant radiological challenge, making them easy to miss or misinterpret. Although MA lesions are rarely reported with still-unknown etiology, it is prudent to be aware of these lesions for prompt diagnosis and management to avoid morbidity and mortality associated with delayed diagnosis and treatment. We present a case of a young patient with a first-time seizure caused by a right parieto-occipital MA lesion that was successfully excised via an awake craniotomy, achieving 100% seizure control. [ABSTRACT FROM AUTHOR]

• Patient presented with constitutional signs without skin involvement. • The serological tests for Bartonella species were negative. • Celiac lymph node biopsy confirmed the diagnosis of bacillary angiomatosis. • This is the first case reported in a kidney transplant recipient on belatacept. • Prolonged antibiotherapy and immunosuppression minimization prevent relapses. Bacillary angiomatosis is a disseminated vascular proliferative disease caused by aerobic gram-negative bacilli Bartonella henselae or Bartonella quintana. Bacillary angiomatosis is mostly described in immunosuppressed patients with HIV infection and organ transplant recipients. We describe the case of a female aged 75 years who is a kidney transplant recipient who was admitted for a 3-month history of intermittent fever, chills, vomiting, and a 12-kg weight loss. The maintenance immunosuppression was based on prednisone, mycophenolate, and monthly infusions of belatacept. Physical examination was unremarkable. Laboratory investigations revealed elevated blood acute phase proteins but all blood cultures were negative. Serological tests for Bartonella were negative. Thoracoabdominal computed tomography scan and transesophageal echocardiography were normal. A Positron Emission Tomography scan showed a hypermetabolic mass in the duodenopancreatic region, with multiple hepatic and splenic lesions. Histological findings of spleen and pancreatic biopsies were not conclusive. The histopathological examination of a celiac lymph node biopsy finally demonstrated bacillary angiomatosis. The diagnosis of bacillary angiomatosis in immunocompromised patients is most often delayed in the absence of skin involvement. A high index of clinical suspicion is needed when interpreting negative results. [ABSTRACT FROM AUTHOR]

Background: Cystic angiomatosis is a rare benign disease manifesting as multiple lytic and sclerotic bone lesions, described as the proliferation of vascular and lymphatic channels lined by a single layer of endothelial cells. However, the potential pathogenetic mechanism of the disease still remains unknown. Here, we reported a case of cystic angiomatosis with multifocal bone lesion evaluated by whole exome sequencing. Case description: In this presentation, we reported a case of an 11-year-old boy with pain in his chest. Computed tomography (CT) revealed the multiple lytic of the bone in the ribs, clavicle, vertebra thoracalis, skull, mandibula, shoulder blade, etc. The blood test showed ALP to be 393U/L and VEGF to be 287.26 pg/ml. The patient was performed with an open biopsy in the ribs and was diagnosed with cystic angiomatosis. Besides, the whole exome sequencing reported the single-nucleotide substitutions in the coding region of BRIP1, CHEK2, GRM4, and MUC16. Then, the upregulated genes involved CASC15, CENPF, ABCA13, ALK, BLM, and FGFR3. Conclusions: In this article, we report a rare case of cystic angiomatosis in a child with abnormal VEGF and ALP reported by peripheral blood examination. The whole exome sequencing could provide the reference for the potential molecular mechanism in the diagnosis and treatment of cystic angiomatosis. [ABSTRACT FROM AUTHOR]

Senile gluteal dermatosis (SGD) is a common but seldom recognized condition. It is characterized clinically by unilateral or bilateral hyperkeratotic, lichenified plaques on the gluteal area, being attributed to prolonged sitting, particularly in the elderly. SGD also encompasses the recently proposed entity of prurigiform angiomatosis. Histologically, there are features of lichenification, such as epidermal hyperplasia and a preserved granular layer, with prominent dermal angioproliferation. We report 4 cases of this condition as well as novel findings of variably increased mast cells and superficial lymphatic vessels in addition to the proliferation of dermal blood vessels. We propose a unifying name for Reactive Epidermal hyperplasia and Angiogenesis of the Rear (REAR) to encapsulate the characteristic clinical and histological features of this distinct entity. [ABSTRACT FROM AUTHOR]

Renal lymphangiomatosis is a rare developmental malformation of the perirenal lymphatic system. We report a unique case with unilateral massive periureteral involvement in addition to intrarenal and peripelvic lymphangiomatosis. Although this is a rare entity, it should be considered in patients with peripelvic or periureteric cystic lesions as it may affect appropriate management and follow-up. This case report reviews the imaging features of this entity and a comprehensive literature review and discussion about the entity will be provided. [ABSTRACT FROM AUTHOR]

Objective To summarize the clinical features, treatment experience and prognosis of meningeal hemangioma. Methods The clinical data of 6 patients with meningeal hemangioma and meningiomatosis admitted to Guangdong Sanjiu Brain Hospital from June 2016 to January 2021 were analyzed retrospectively, and the relevant literature was reviewed. Results Among the 6 patients, 1 manifested generalized tonic-clonic seizures and 5 were partial seizures secondary to generalized tonic-clonic seizures. Epileptic discharges were found at the lesion site during intraoperative cortical monitoring. All patients were treated with the gross-total resection of the lesion and the surrounding cortex under the guide of intraoperative monitoring. Anti-epileptic drugs were given regularly after operation and no patient died or suffered a permanent defcit after surgery. Postoperatively, all the patients were seizure free. Conclusions In patients with recurrent seizures, if the brain MRI shows long abnormal signal in T1 and Ꭲ2 weighted sequence, especially low signal inside and high signal outside in T2 Flair sequence, T1 weighted enhancement can be enhanced without visible part, and CT scans show calcified lesions, the diagnosis of meningeal hemangioma should be considered. After electrophysiological evaluation and multidisciplinary discussion to determine the epileptic zone for meningeal hemangioma, the focus and surrounding tissues are removed. The outcomes are good, and the risk of postoperative recurrence is low. Therefore, patients of meningeal hemangioma with epilepsy can be treated with surgery, especially in early stage. [ABSTRACT FROM AUTHOR]

Purpose: Villous capillary lesions are rare abnormal placental developmental conditions which include chorangiosis, chorangiomatosis, chorangioma and a rare variant of the latter called multiple chorangioma syndrome. The causes of villous capillary lesion are not completely clear but appear to involve excessive angiogenesis. In this paper we start illustrating our experience of multifocal chorangiomatosis with the newborn affected by massive umbilical vein thrombosis, disseminated intravascular coagulopathy and hydrops, going to a literature review of cases available. Results: Two other similar cases have been previously published in literature. Comparing clinical characteristics and fetal outcomes, we confirm the association with unfavorable neonatal outcome mentioned in literature. Our case is the first characterized by severe hemolytic anemia, thrombocytopenia, heart congestion with the overlap of disseminated intravascular coagulopathy and massive umbilical vein thrombosis and congenital anomalies. Our clinical case and the review of literature highlight how multifocal chorangiomatosis, within the three subgroups identified, is the rarer form with distinct placental features and the worst outcomes for neonates. No cases of multifocal chorangiomatosis have never been described prenatally and, for further studies, could be reasonable investigate the involvement of some growth factors like vascular endothelial growth factor and placental growth factor that could lead to a detection of a subgroup of patient at higher risk to manifest placental vascular lesions and the follow fetal and maternal complications. [ABSTRACT FROM AUTHOR]

Meningioangiomatosis (MA) is a disease that is extremely rarely reported. Sporadic MA is occasionally combined with meningioma or other lesions (identified as non-pure MA). This retrospective study investigated the difference between pure MA and non-pure MA by exploring clinical manifestations, histopathology characteristics, and outcomes of MA after surgery. We reviewed the medical records of 36 histopathologically confirmed MA patients (18 pure MA and 18 non-pure MA) who received surgery at our institution between 2012 and 2021. We compared differences in demographic, clinical, imaging, pathological features, and surgical outcomes between pure MA and non-pure MA through descriptive statistics. Compared to non-pure MA, pure MA presented with a more prominent male predilection (5:1 vs. 1.57:1, P = 0.264), a higher seizure incidence (83.3% vs 50.0%, P = 0.038), a more seizure type of GTCS (14/15 vs 5/9, P = 0.047), a less prominent enhancement on MRI (27.8% vs 88.9%, P < 0.001) and a preference of temporal and frontal lobe (100% vs 44.4%, P < 0.001). The differences in clinical characteristics between pure MA and non-pure MA demonstrate their disparate biological natures. Pure MA seems to be a non-neoplastic lesion, while non-pure MA is commonly combined with meningioma, which is a neoplastic lesion. A correct differential diagnosis can be achieved via a triad of the type of seizure, the location of lesion and the radiological presentation. MA is curable and the prognosis is excellent as most patients are free of seizure and recurrence after surgical treatment. [ABSTRACT FROM AUTHOR]

Background: Visceral hemangiomatosis is a benign tumor (rarer than hemangioma) that has not been reported to occur in the pancreas, duodenum, or choledoch. It can be easily confused with other pancreatic tumors or choledocholithiasis. Herein, we describe a case of a child with pancreaticoduodenal and choledochal hemangiomatosis and the key characteristics for the accurate diagnosis of pancreatic tumors based on previous reports and our findings. Case presentation: We report a case of a 2-year and 9-month-old child who presented with repeated and fluctuating jaundice for 3 months with a history of endoscopic stone removal in a local hospital, following the diagnosis of choledocholithiasis. An abdominal computed tomography revealed a previously undiagnosed pancreatic head tumor and celio-mesenteric trunk (a rare vascular variation). This was misdiagnosed as a pancreatic neuroendocrine tumor. Since the patient's parents refused FNA biopsy and insisted on surgery, pancreaticoduodenectomy was performed; however, postoperatively, the child was correctly diagnosed with pancreaticoduodenal and choledochal hemangiomatosis. Although the patient was in good condition and had gained 4 kg in weight 3 months postoperatively, pancreaticoduodenectomy could have been avoided if an accurate diagnosis had been established before or during the operation. Conclusion: Our report highlights the difficulty in diagnosing visceral hemangiomatosis. Radiologists, endoscopists, and surgeons should consider this possibility in cases of repeated and fluctuating jaundice that cannot be explained by choledocholithiasis alone. [ABSTRACT FROM AUTHOR]

BACKGROUND: Sturge-Weber syndrome is a non-inheritable condition which belongs to the spectrum of neurocutaneous disorders, also known as phacomatoses; it is the most common condition after neurofibromatosis and tuberous sclerosis. This syndrome is characterized by capillary vascular changes in the face (port wine stain) and ocular and cerebral capillary and venous malformations. Given its clinical presentation, the diagnosis is suspected by a complete physical exam and confirmed by imaging studies. CLINICAL CASE: This paper reports two cases of children diagnosed with Sturge-Weber syndrome at the age of three and eight months, respectively, both presenting complex seizures as part of the disease debut and port wine stain at the physical examination. Complementary studies carried out and therapeutic approach are described. CONCLUSIONS: Sturge-Weber syndrome has a specific clinical phenotype (facial hemangioma and seizures). This phenotype could be easily seen in Sturge-Weber syndrome patients and could prevent delay of diagnosis. [ABSTRACT FROM AUTHOR]

We call hemangiomatosis if hemangioma arises multifocally from single or multiple organs. It develops predominantly on liver, and there are just few cases of hemangiomatosis from greater omentum and mesentery. Herein, we present the imaging and histopathological findings including CT and MRI images of a 62-year-old male patient with a hemangiomatosis on liver, greater omentum and mesentery. [ABSTRACT FROM AUTHOR]

Sturge-Weber syndrome (SWS) is a sporadic congenital neuro-cutaneous anomaly with capillary-venous malformation involving the brain, eye, and the ophthalmic division of the trigeminal nerve. In these cases, physiological changes in pregnancy, including hormonal and hemodynamic changes, may predispose to increased seizure frequency and even a life-threatening intracranial haemorrhage. There are only few case reports available about the management of women with pregnancy and SWS. We report two patients with SWS diagnosed in childhood and managed during pregnancy and reviewed the outcomes and complications during pregnancy in women with this disorder. [ABSTRACT FROM AUTHOR]

Sclerodermatous graft‐versus‐host disease (GvHD) is one of the many clinicopathological variants of chronic GvHD. One of the rarest forms of this variant is GvHD‐associated angiomatosis (GvHD‐AA). We describe the case of a 62‐year‐old male with sclerodermatous GvHD who presented, in consecutive years, two different lesions that showed characteristics of GvHD‐AA. The first lesion fitted perfectly with the previously known features of this rare entity. However, the second lesion was more interesting, as the angiomatoid lesion was surrounded by newly appeared adipocytes, something not previously described. The appearance of this peculiar adipose tissue may be explained as related to an important dermal atrophy, as a concomitant appearance of a lipomatous nevus and GvHD‐AA, or, finally, as mature adipose tissue related to a previous inflammatory process, that is, lipomatous metaplasia. Both lesions were diagnosed as GvHD‐AA, and the second one was considered to be associated with dermal lipomatous metaplasia. We also considered whether hypoxia could be related to both lesions. In the present report, we review previously published cases of GvHD‐AA and discuss the different hypotheses that could explain the appearance of metaplasia associated with the second lesion. [ABSTRACT FROM AUTHOR]

Diffuse pulmonary lymphangiomatosis is an extremely rare disorder of the pulmonary lymphatic system, characterised by proliferation and dilation of the pulmonary lymphatic vessels. The diagnosis is made on the basis of clinical, functional respiratory and scannographic findings. However, the diagnosis of certainty is based on histological analysis and immunohistochemical study. Treatment can be surgical for localised forms, while for diffuse forms systemic chemotherapy is the adopted treatment; however, results are inconsistent as there is no standard protocol. The doses used and the duration of treatment vary between studies. The prognosis of diffuse pulmonary lymphangiomatosis remains poor overall, but could be improved by early diagnosis, at a stage when systemic chemotherapy can stop or reduce the progression of the lesions. [ABSTRACT FROM AUTHOR]

Cutaneous reactive angiomatosis, a group of disorders defined by benign vascular proliferation, is associated with a number of systemic processes, including intravascular occlusion by cryoproteins. We report a case of a 64‐year‐old female patient who presented with a 1‐year history of nontender petechiae of the bilateral arms and lower legs. Dermoscopic evaluation showed increased vascularity with a globular pattern. Over a period of months, her findings progressed to erythematous to violaceous plaques with admixed hypopigmented stellate scarring of the bilateral lower extremities, forearms, and lateral neck. Biopsy showed increased thin‐walled, small dermal blood vessels with focal inter‐anastamosis. Some vessels were occluded by eosinophilic globules suspicious for cryoprotein. Subsequent laboratory studies confirmed a diagnosis of type 1 cryoglobulinemia, prompting a bone marrow biopsy that revealed lymphoplasmacytic lymphoma. Herein, we report the fourth case of angiomatosis secondary to intravascular cryoproteins as the initial presentation of an underlying hematologic malignancy. We also present a review of the literature and emphasize the need for thorough initial workup and close and prolonged clinical monitoring for underlying systemic disease in these patients. [ABSTRACT FROM AUTHOR]

Bacillary angiomatosis (BA) is a rare but an infrequent opportunistic infection reported mostly in HIV-infected patients. The most common site of involvement is the skin manifestation followed by solid organs involvement like liver and bone. Although most cutaneous manifestations are treatable, the other organs involvement can be fatal in some cases. We report a case of an isolated osteolytic lesion due to the Bacillary angiomatosis (BA). We conclude that Bacillary angiomatosis (BA) should be suspected and screened when an osteolytic bone lesion is identified in immunocompromised patients like HIV with or without cutaneous manifestations as it is deadly fatal if treatment is not given. [ABSTRACT FROM AUTHOR]

We studied retrospectively 651 PCR-confirmed Bartonella infections diagnosed at the French reference center for bartonellosis from 2014 to 2019. The most common form was cat-scratch disease (89%) followed by endocarditis (9%). Disseminated forms (2%) mainly presented as bacillary angiomatosis or peliosis hepatis in solid organ transplant recipients. [ABSTRACT FROM AUTHOR]

Spontaneous intracranial hypotension is an uncommon etiology of secondary headaches in children. We report a unique case of a girl with kaposiform lymphangiomatosis who developed postural headaches and imaging features of spontaneous intracranial hypotension without a spinal extradural collection. The girl underwent dynamic computed tomography myelography which revealed a cerebrospinal fluid (CSF)-lymphatic fistula related to a lymphatic malformation associated with the right T10 nerve. She underwent surgical ligation of the CSF-lymphatic fistula, resulting in resolution of the headaches. Spinal CSF-lymphatic fistulas are rare and have previously been reported in two patients with Gorham-Stout disease. The current report suggests that patients with systemic lymphatic anomalies who develop postural headaches should undergo evaluation for spontaneous intracranial hypotension and a CSF-lymphatic fistula. If discovered, surgical ligation is a potential treatment. [ABSTRACT FROM AUTHOR]

Erythema ab igne is an uncommon physical dermatosis that presents with localized patches of reticulated erythema and hyperpigmentation corresponding with the underlying dermal venous plexus. The rash occurs in response to chronic heat exposure that does not meet the threshold for thermal burn of the skin. The histopathologic findings are characterized by atrophy and thinning of the epidermis, focal hyperkeratosis, and keratinocyte atypia. The dermis displays dilated capillaries, evidence of pigment incontinence, and prominent elastotic material. We report a case of a 65‐year‐old male who presented to his primary care physician with a 1‐year history of reticular erythema and hyperpigmentation with focal ulceration on his right lateral leg. Histopathology on biopsy revealed mild hyperkeratosis and focal epidermal atrophy; however, the most striking finding was a proliferation of dermal vascular spaces lined by pleomorphic endothelial cells and numerous mitotic figures, which was morphologically compatible with angiosarcoma. However, clinicopathologic correlation and immunostaining revealed an actual diagnosis of erythema ab igne with reactive angiomatosis. Reactive angiomatosis—morphologically mimicking angiosarcoma—is a rarely reported feature of severe erythema ab igne, and dermatopathologists should be aware of this possibility to avoid misdiagnosis of erythema ab igne as angiosarcoma. [ABSTRACT FROM AUTHOR]

Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis can only be confirmed by the histopathologic assessment of a biopsy. In neonates, a rapid but accurate diagnosis is critical because skin lesions may be the first manifestation of a malignant disorder like leukemia cutis or metastatic neuroblastoma. Here, we review the various disorders that may manifest themselves as multiple skin lesions at birth. [ABSTRACT FROM AUTHOR]

A 1-year-old castrated mixed-breed dog presented with diffuse, purple lesions arranged in an irregular patchy pattern, with a slight elevation on the right hindlimb extending from the tarsus joint to the upper region of the thigh. Dermatological examinations and fungal and bacterial cultures revealed no infectious agents. The therapeutic response to antibiotics and antifungal agents was negative. A histopathology examination of the lesion revealed vascular proliferation with vasodilation and numerous varying-sized vessels. Mast-cell-dominated perivascular cuffing was also noted. The dog was diagnosed with cutaneous angiomatosis due to diffuse lesions and the histopathology findings of hemangioma. [ABSTRACT FROM AUTHOR]

Background: Generalized lymphatic anomaly previously known as diffuse systemic lymphangiomatosis is a rare multisystem congenital disease arising from the lymphatic system, and it is characterized by abnormal proliferation of the lymphatic channels in osseous and extraosseous tissues. It typically affects children or young adults. Although it is benign, it can be misdiagnosed as malignancy because of its diffuse and debilitating nature depending on the site of involvement. Due to its rarity, diagnosis is often delayed, leading to potential significant morbidity or mortality if vital organs are involved. Furthermore, its potential for multiorgan involvement with no curative treatment makes its management challenging.Case Presentation: We describe a case of a 35-year-old Caucasian female, who presented with epigastric pain and was subsequently extensively investigated at multiple tertiary centers by numerous specialists for query malignancy and metabolic bone disorder following incidental computed tomography imaging findings of multiple osteolytic lesions in the axial skeleton, and low-attenuating lesions in the axilla, spleen, and mediastinum. The diagnosis was confirmed with an axillary excisional biopsy. She was clinically stable with no end organ damage. She was monitored conservatively.Conclusions: The case illustrates the importance of increased awareness among clinicians for this rare congenital disease to enable earlier diagnosis and to avoid unnecessary invasive investigations. Furthermore, this case highlights the potential need for multiple biopsies of affected sites to confirm diagnosis. We also discuss the emergence of interferon therapy, chemotherapy, immunosuppression, and immunotherapy as medical management for this condition. [ABSTRACT FROM AUTHOR]

Objectives: This study aimed to evaluate the CT and MRI findings of focal splenic lesions and ascites in generalized lymphatic anomaly (GLA), kaposiform lymphangiomatosis (KLA), and Gorham-Stout disease (GSD). Material and Methods: Twenty-three patients (10 with GLA, 5 with KLA, and 8 with GSD) who underwent abdominal CT and/or MRI before treatment were included in this study, and their imaging findings were retrospectively evaluated. Results: Focal splenic lesions were observed in nine patients; these lesions were observed frequently in GLA (n = 5; 50%) or KLA (n = 3; 60%) compared with GSD (n = 1; 13%); however, no significant differences were found between the three groups (P = 0.190). On CT images among eight patients (4 with GLA, 3 with KLA, and 1 with GSD) with focal splenic lesions who underwent CT, the number of focal splenic lesions per patient ranged from 2 to 189 (mean, 42) and the maximum diameter of focal splenic lesions ranged from 2 to 39 mm (mean, 8 mm), while more than 30 focal splenic lesions per patient were observed in 2 (50%) GLA and focal splenic lesions with maximum diameters of =10 mm were observed in 4 (100%) GLA but not in KLA or GSD. Ascites was observed in five patients; significant differences were observed among KLA (n = 4; 80%), GLA (n = 1; 10%), and GSD (n = 0; 0%) (P < 0.01). Ascites was significantly more frequent in KLA than in GSD (P < 0.05). Conclusion: More than 30 focal splenic lesions per patient and/or focal splenic lesions with maximum diameters of =10 mm were observed only in GLA. Focal splenic lesions tended to be less frequent in GSD, whereas ascites tended to be frequent in KLA. [ABSTRACT FROM AUTHOR]

Bacillary angiomatosis (BA) is an uncommon systemic disease caused by Bartonella henselae (BH) or Bartonella quintana (BQ) that occurs primarily in immunocompromised hosts. Few cases of BA recipients have been reported in adult solid transplant recipients over the years, with most cases presenting years after transplant. We describe a case of a kidney transplant recipient who developed cutaneous BA very early in the post‐transplant period despite not having any exposures. Retrospective testing of donor and recipient's serum was performed and raised the concern for possible donor‐derived infection. A literature review encompassing 1990 to present was also performed in order to better understand the clinical presentation, diagnostics and therapeutic approach of this unusual disease. Combined serology, histopathology and molecular testing (polymerase chain reaction [PCR]) were useful in diagnosing BA in our patient as serology alone might be unreliable. Macrolides or doxycycline for at least 3 months is the recommended therapeutic strategy; however, the optimal duration of treatment is not well established in transplant recipients. In our patient, we decided to use doxycycline for 1 year due to gradual resolution of lesions and ongoing immunosuppression. Patient responded successfully without any documented relapse. [ABSTRACT FROM AUTHOR]

Oral propranolol is recommended as the first‐line agent for infantile hemangioma requiring systemic treatment. Life‐threatening complications such as obstructive infantile hemangioma of the airway or infantile hepatic hemangioma associated with high‐output congestive heart failure are major indications for the consideration of early treatment. We present the case of an infant with life‐threatening diffuse neonatal hemangiomatosis, including airway obstruction due to subglottic hemangioma, heart failure due to multiple hepatic hemangiomas with portohepatic venous shunts, and severe anemia due to continuous gastrointestinal bleeding, in which treatment with intravenous propranolol proved successful. [ABSTRACT FROM AUTHOR]

Objective To investigate the surgical effect of refractory epilepsy caused by meningioangiomatosis（MA). Methods The clinical data of 2 patients with MA confirmed by pathology were analyzed retrospectively. In case 1,the EEG in intermittent period was normal, but the patient had definite clinical attack. Case 2 was complicated with gray matter heterotopia at the same time. Both lesions were resected under intracranial cortical EEG monitoring. Results The operation process was smooth and the postoperative recovery was good. The postoperative follow-up for 1 year was Engle grade I, and the quality of life was improved. Conclusion The surgical treatment of refractory epilepsy caused by MA has a definite effect. [ABSTRACT FROM AUTHOR]

Past history of COVID-19 infection was present in 4 patients (2-3 months back), while 3 patients had a history of dengue infection before vaccination. Clinical, histopathological, and dermatoscopic characterization of eruptive pseudoangioma developing after COVID-19 vaccination - A case-series Keywords: COVID-19; COVID-19 vaccine; eruptive pseudoangioma; eruptive pseudoangiomatosis; SARS-CoV-2 EN COVID-19 COVID-19 vaccine eruptive pseudoangioma eruptive pseudoangiomatosis SARS-CoV-2 1799 1801 3 05/24/22 20220501 NES 220501 ETHICS APPROVAL Due ethical approval was taken from institutional ethics committee. [Extracted from the article]

Introduction: Sturge Weber Syndrome (SWS), known as encephalotrigeminal angiomatosis, is a rare neurocutaneous disorder and is having a prevalence of 1/20-50,000, live births. The syndrome consists of leptomeningeal angiomas and the angiomas of the face, characteristically in the ophthalmic and maxillary divisions of the trigeminal nerve. The neurological presentations include fits, deficits in cognition, glaucoma, and visual field abnormalities. The overgrowth of the soft tissues and extracranial angiomas can also occur in SWS. Case presentation: We are presenting a rare case of Sturge Weber Syndrome in an infant who presented at an early stage of this disorder. The index case presented to us with a large port-wine stain and right-sided focal fits. The CT scan brain showed subtle gyriform tram-track calcification of the left cerebral cortex and the left-sided cerebral atrophy. Ophthalmological examination showed glaucoma of the left eye. The clinical and radiological criteria were used to make the final diagnosis of SWS. Conclusion: The case is being reported in order to increase awareness among medical professionals. [ABSTRACT FROM AUTHOR]

Background: Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of KLA. Sirolimus, which is an inhibitor of mammalian target of rapamycin, has been shown to have promising potential in the treatment of complicated vascular anomalies. The aim of this study was to introduce the use of sirolimus for the treatment of KLA and to highlight the challenges of managing this refractory disease.Results: We reported seven patients with KLA who received sirolimus therapy in our center. Combined with previously reported cases, 58.3% achieved a partial response, 25.0% had stable disease, and 16.7% experienced disease progression. No severe sirolimus-related adverse events occurred during treatment.Conclusions: This study suggests that sirolimus is currently an option for the treatment of KLA, and it is hoped that more specific therapies will be developed in the future. Rapid advances in basic science and clinical practice may facilitate the development of important new treatments for KLA. [ABSTRACT FROM AUTHOR]

Introduction. Infantile hemangiomas with multi-organ involvement are rare, and presentation in the form of uncontrollable bleeding is exceptional. Clinical case. 4-day-old newborn with multiple hepatocutaneous hemangiomas and a purplish vascular lesion in the third finger of the right hand. In the third week of life, the lesion became ulcerated and caused uncontrollable bleeding. Therefore, urgent amputation was required, with a histopathological result of GLUT-1 positive infantile hemangioma, and an architecture compatible with arteriovenous malformation in the deep portion. Imaging tests revealed it was a high-flow lesion. Genetic tests (MAP2KI, RASA 1, EPHB4, GNAQ, and GNA 11) were negative. Patient progression was good, with hepatocutaneous lesions receding and eventually disappearing. Discussion. No explanation has been given yet as to why the same vascular lesion may behave differently in different patients. New mutations may be accountable for this. [ABSTRACT FROM AUTHOR]

Gorham-Stout disease (GSD) is a rare entity that destroys the bone matrix resulting mainly in osteolysis, pain and pathologic fractures among a broader clinical picture. We report a case of a 60-year-old female with a sudden discovery of pathologic fractures in the pelvis and the absence of the left femoral head. On biopsy, no cellular atypia was found, instead disturbed bone formation with prominent vascularity with scattered foci of necrosis & osteolysis, which lead to the diagnosis of GSD. Possible differential diagnoses were discussed and excluded. The patient was put on Bisphosphonate that led to a relative improvement in the symptoms. This disease needs a more thorough investigation to identify the key cause, what is beyond the scope of this report. [ABSTRACT FROM AUTHOR]