Pediatric vascular anomalies in Austria. Where are we at? A survey among primary care pediatricians.

Introduction: Vascular anomalies (VAs) are rare conditions and affected patients often experience a difficult patient journey. Timely diagnosis is only possible if primary caregivers are aware of the anomalies and are connected with dedicated specialists. Aim of our survey was to investigate the knowledge about diagnostic and therapeutic possibilities for children with VAs, and the existing networking among primary pediatric caregivers in Austria. Methods: Primary care pediatricians in Austria were invited to complete an online questionnaire consisting of 28 questions focusing on pediatric VAs. Results: Out of 373 invited pediatricians 93 (25%) returned the questionnaires, 86 of which were complete. Most physicians (39/93 42%) answered that they see between 15 and 30 patients with infantile hemangiomas per year. Vascular malformations are rarely treated in the primary care setting; most primary care pediatricians (58/86, 67%) reported that they currently treat fewer than 5 patients with such type of VAs. There was unequivocal agreement among the participants (84/86, 98%) on the need to establish a network of specialists and a registry dedicated to pediatric VAs. Conclusions: This survey represents the first study shedding light on the awareness of VAs among Austrian pediatricians and can serve as a basis for future investigations and advances in the management of these conditions in Austria and other countries with a similar healthcare setting.

The epifascial cap: A typical imaging sign for subcutaneous granuloma annulare in children.

Objectives: Subcutaneous granuloma annulare (SGA) is a rare, self-limiting granulomatous disease in children, commonly diagnosed by histopathology following biopsy or surgical excision. This study aimed to identify imaging clues for SGA that could expedite accurate diagnosis and avoid the need for biopsy in children. Methods: We retrospectively analyzed complete hospital records of all children diagnosed with SGA at our institution from January 2001 to December 2020. Detailed disease history, imaging findings, management, and outcome were evaluated. Results: We identified 28 patients (20 girls) at a median age of 3.75 (range 1-12.5 years). Ten patients presented with multiple lesions. Most lesions were located on the lower extremities (n = 26/41). Ultrasound examinations were performed on all patients, and 12 (43%) patients also received an MRI. Surgical intervention was conducted in 18 (64%) patients either by incisional biopsy (n = 6) or total excision of the lump (n = 12). In all patients who did not undergo surgery, SGA resolved spontaneously. A careful review of the MRIs led to the discovery of a characteristic imaging shape of SGA lesions: the epifascial cap with a typical broad circular base laying on the fascia, extending towards the subdermal/dermal tissue. This distinctive shape was evident in every patient in our cohort. Conclusions: The "Epifascial Cap Sign" is a specific imaging sign for SGA, which to the best of our knowledge, helps distinguish this disease from other subcutaneous lesions. Recognition of this novel diagnostic sign combined with the historical and physical findings should enable clinicians to establish SGA diagnosis easily and diminish the need for further invasive diagnostic procedures.

Indications for surgical resection of complicated infantile hemangiomas in the ß-blocker's era: a single-institution experience from a retrospective cohort study.

BACKGROUND AND OBJECTIVES: This study aims to review how the introduction of propranolol as the primary treatment option for children with infantile hemangiomas (IHs) has affected the use of other treatment options at our institution and to determine the indications for surgical treatment of children with IHs in the propranolol era. PATIENTS AND METHODS: The authors conducted a single-center, noncompeting, historical/retrospective cohort study to review all cases referred to the institution for IH evaluation from 2005 to 2020. The authors analyzed the complete charts of patients who received surgery from 2011 to 2020 and evaluated the reasons for each surgical intervention. Detailed descriptive statistics are provided. Logistic regression analysis and Pearson's χ2 -test were applied. RESULTS: During the study period, 592 children received treatment. From 2011, oral propranolol ( n =268; 74%) and surgery ( n =95; 26%) were the only treatments of choice for complicated IH cases. A significant decrease in the frequency of surgical treatment was observed ( P =0.01). The authors identified four main indications for surgical treatment: (1) patients with ulceration and IH size appropriate for surgical resection (15%); (2) patients whose parents preferred surgical treatment (19%); (3) patients who presented late and underwent surgery before the age of three (29%); and (4) patients with sequelae after IH involution and excision after the third year of life (37%). CONCLUSIONS: Despite the significant decrease in the need for surgical treatment of children with IHs since the introduction of propranolol, there are still several clear indications for treating IH cases where surgery plays a crucial role.

Outcome after surgical treatment of venous malformations of the hand in childhood.

OBJECTIVE: Surgical treatment of venous malformations (VMs) of the hand is challenging. The hand's small functional units, dense innervation, and terminal vasculature can be easily compromised during invasive interventions like surgery or sclerotherapy, leading to an increased risk of functional impairment, cosmetic consequences, and negative psychological effects. METHODS: We have conducted a retrospective review of all surgically treated patients diagnosed with VMs of the hand between 2000 and 2019 and evaluated their symptoms, diagnostic investigations, complications, and recurrences. RESULTS: Twenty-nine patients (females, n = 15) with a median age of 9.9 years (range, 0.6-18 years) were included. Eleven patients presented with VMs involving at least one of the fingers. In 16 patients, the palm and/or dorsum of the hand was affected. Two children presented with multifocal lesions. All patients presented with swelling. Preoperative imaging was done in 26 patients and consisted of magnetic resonance imaging in nine patients, ultrasound in eight patients, and both modalities in nine patients. Three patients underwent surgical resection of the lesions without any imaging. Indications for surgery were pain and restriction of function (n = 16), and when lesions were preoperatively evaluated as completely resectable (n = 11). In 17 patients, a complete surgical resection of the VMs was performed, whereas in 12 children, an incomplete resection of VM was deemed due to nerve sheath infiltration. At a median follow-up of 135 months (interquartile range, 136.5 months; range, 36-253 months), recurrence occurred in 11 patients (37.9%) after a median time of 22 months (range, 2-36 months). Eight patients (27.6%) were reoperated because of pain, whereas three patients were treated conservatively. The rate of recurrences did not significantly differ between patients presenting with (n = 7 of 12) or without (n = 4 of 17) local nerve infiltration (P = .119). All surgically treated patients who were diagnosed without preoperative imaging developed a relapse. CONCLUSIONS: VMs in the region of the hand are difficult to treat, and surgery is associated with a high recurrence rate. Accurate diagnostic imaging and meticulous surgery may contribute to improve the outcome of the patients.

Subcutaneous Granuloma Annulare vs. Subcutaneous Vascular Malformations in Children: A Diagnostic Challenge.

OBJECTIVES: There are various subcutaneous lesions in children and often there is difficulty in obtaining an accurate diagnosis by non-invasive diagnostic procedures. Subcutaneous granuloma annulare (SGA) is a rare granulomatous disease that, even after imaging, is often mistaken for a low-flow subcutaneous vascular malformation (SVM). This study aimed to accurately identify clinical and imaging clues to distinguish SGA from low-flow SVM. METHODS: We retrospectively analyzed complete hospital records of all children with a confirmed diagnosis of SGA and low-flow SVM who underwent MR imaging at our institution from January 2001 to December 2020. Their disease history, clinical and imaging findings, management, and outcome were evaluated. RESULTS: Among 57 patients with granuloma annulare, we identified 12 patients (nine girls) with a confirmed SGA diagnosis who underwent a preoperative MRI. Their median age was 3.25 years (range 2-5 years). Of 455 patients diagnosed with vascular malformations, 90 had malformations limited to the subcutaneous area. Among them only 47 patients with low-flow SVM were included in the study and further analyzed. Our SGA cohort had a female predilection (75%) and a short history of lump appearance of 1.5 months. SGA lesions were immobile and firm. Before MRI, patients underwent initial evaluation by ultrasound (100%) and X-ray (50%). Surgical tissue sampling was performed in all SGA patients to establish a diagnosis. All 47 patients with low-flow SVM were diagnosed correctly by MRI. A total of 45 patients (96%) underwent surgical resection of the SVM. A careful retrospective review of imaging findings of patients with SGA and SVM showed that SGA present as homogenous lesions in the shape of an epifascial cap with a typical broad fascial base extending towards the subdermal tissue in the middle of the lesion. In contrast, SVMs always present with variable-sized multicystic or tubular areas. CONCLUSIONS: Our study shows clear clinical and imaging differences between low-flow SVMs and SGA. SGA presents characteristically in the shape of a homogenous "epifascial cap," which distinguishes these lesions from multicystic heterogenous SVMs.

Indications and Limitations of Sirolimus in the Treatment of Vascular Anomalies-Insights From a Retrospective Case Series.

Background: Despite recent developments, the role of sirolimus in the heterogeneous spectrum of vascular anomalies is yet to be defined, in terms of indication, dosage, and therapy duration, recognizing both its potential and limitations. Methods: We retrospectively analyzed 16 children with vascular anomalies treated with sirolimus in two pediatric centers between 2014 and 2020 [male: n = 7, the median age at diagnosis: 4.6 months (range, 0-281.4)]. In addition, repetitive volumetric analyses of the vascular anomalies were performed when possible (11 cases). Results: Ten patients were diagnosed with vascular malformations and 6 with vascular tumors. The mean therapy duration was 27.2 months (range, 3.5-65). The mean sirolimus level was 8.52 ng/ml (range, 5.38-12.88). All patients except one with central conducting lymphatic anomaly responded to sirolimus, with the most noticeable volume reduction in the first 4-6 months. Additional administration of vincristine was needed in five patients with kaposiform hemangioendothelioma and yielded a response, even in cases, refractory to sirolimus monotherapy. As a single agent, sirolimus led to impressive improvement in a patient with another vascular tumor-advanced epithelioid hemangioendothelioma. Complicated vascular malformations required long-term sirolimus therapy. Side effects of sirolimus included mucositis and laboratory abnormalities. No major infectious episodes were recorded. An infant with COVID-19, diagnosed while on sirolimus therapy, presented with a mild course. Conclusion: In the current series, we reported limitations of sirolimus as monotherapy, addressing the need to redefine its indications, and explore combination regimens and multimodal treatment strategies. Tools for objective evaluation of response trends over time could serve as a basis for the establishment of future therapeutic algorithms.

Splint Duration and Not the Mode of Anesthesia Is the Main Factor Influencing Avascular Necrosis After Closed Reduction for Developmental Dysplasia of the Hip in Kosovo.

The aim of this study was to determine whether the use of analgesia and sedation (AS) as opposed to general anesthesia (GA) for closed reduction and spica casting of children with severe developmental dysplasia of the hip (DDH) influenced the long-term incidence of avascular necrosis (AVN). In a prospective, randomized, single-blinded clinical trial we investigated 100 pediatric patients with DDH type IIIa, IIIb, and IV (according to Graf classification), who were randomly assigned into the group receiving AS, and the group receiving GA. Baseline demographics, splint duration, and type of DDH were carefully assessed. The presence of AVN was assessed at the follow-up visits at 1 and 7 years after the end of treatment. The AS-group consisted of 50 patients (46 girls) with 76 hips affected (n = 11/Type-IIIa, n = 32/Type-IIIb, and n = 33/Type-IV). The GA-group consisted also of 50 patients (44 girls) with 78 hips involved (n = 15/Type-IIIa, n = 34/Type-IIIb, and n = 29/Type-IV). At 7-years follow-up, AVN was diagnosed in 9 of 154 hips (5.8%), 5 hips in the AS-group and 4 hips in the GA group. The logistic regression model showed no significant difference in AVN incidence between the AS and GA groups at 7-years follow-up (p = 0.27). The multivariate regression analysis showed that neither the type of DDH nor the age at diagnosis influenced the incidence of AVN (p = 0.48 and p = 0.28, respectively). Splint duration was identified as the only significant factor for the long-term incidence of AVN in the treatment of severe DDH. For every month of longer splint duration, the odds of AVN at 7-years follow-up increased by a factor of 3.81 (95%CI: 1.35-13.73, p = 0.02). Closed reduction and spica casting of children with severe DDH under AS can be considered a feasible alternative to management under GA. All efforts must be made to diagnose patients with DDH as early as possible and shorten the duration of splint treatment to prevent the development of AVN. Level of Evidence. Level II-1.

Congenital Hypertrophic Pyloric Stenosis in a Preterm Dizygotic Female Twin Infant: Case Report.

Infants with hypertrophic pyloric stenosis are usually diagnosed at about 3 to 8 weeks of age. The clinical onset of symptoms in preterm babies is observed normally at a later age than in term or post-term newborns. This report describes a rare case of a 2-day old preterm twin girl presenting with drinking laziness and recurrent vomiting. Five days after the beginning of symptoms and after several studies, including an upper gastrointestinal contrast study, the diagnosis of hypertrophic pyloric stenosis was made and confirmed at surgery. The postoperative course was uneventful. Interestingly, the mother of the child herself had a history of postnatal surgery on her fifth day of life due to congenital hypertrophic pyloric stenosis. To our best knowledge, this is the first report in the literature describing congenital hypertrophic pyloric stenosis in a mother and her child.

Chylous content might determine the optimal surgical approach for mesenteric lymphatic malformations in childhood.

BACKGROUND: Mesenteric lymphatic malformations (LMs) represent rare congenital anomalies that can include chylous or nonchylous content. The pathologic mechanisms explaining this phenomenon are poorly understood and not yet described. Furthermore, the current management approach does not consider the contents of the mesenteric LMs. In the present study, we have defined the relationship between the lymphatic mesenteric cyst content and the histologic evidence of LMs within the bowel wall. METHODS: We retrospectively investigated all patients with mesenteric LMs treated surgically at our department from 1999 to 2018. RESULTS: A total of 11 patients (6 girls and 5 boys) were included in our analysis. Seven patients had presented with LMs located in the jejunal mesentery, three in the ileocecal region, and only one in the mesocolon transversum and omentum. Of the 11 children, 7 had had LMs with nonchylous content and 4 had presented with chylous content LMs. Intestinal resection was performed in all 4 patients with chylous content LMs and 4 patients with nonchylous content LMs. Histopathologic evaluation of the surgical specimens determined that only the LMs with chylous content displayed malformed lymphatic channels throughout the bowel wall. The resected small bowel of four patients with nonchylous content showed no LM extension throughout the intestinal wall. CONCLUSIONS: LMs with chylous content seem to develop from malformed lymphatic channels within the bowel wall. In such cases, segmental intestinal resection is mandatory. In contrast, mesenteric LMs with nonchylous content can potentially be treated without bowel resection if the blood supply can be preserved. This finding is, to the best of our knowledge, reported in the present study for the first time.