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To study the risk factors for hemangioma-related complications, treatment indications and analyze the outcome of patients with infantile hemangioma. Retrospective. University hospital. Fifty-five patients (1–69 months; median: 12 months) with infantile hemangioma with mean follow-up 19 months. The eligibility was based on the criteria of the International Society for the Study of Vascular Anomalies (ISSVA). The surgical treatment included total excision whereas medical treatment was carried out by interferon and /or corticosteroids. Data was collected including sex, age, prematurity, age at onset, number, anatomic location and size of hemangioma, age at treatment, cause of treatment decision, family history, presence of extra malformations, involvement of internal organs, presence of life altering or life threatening complications, response to treatment, dose and duration of medications, complications associated with treatment, follow-up period, and final outcome. Thirty-four (62%) patients were followed-up without treatment, whereas 21 others underwent treatment including steroids, interferon, and surgery. The size of hemangioma was a major factor that predicted hemangioma-related complications (P=0.002). Patients with hemangioma related complications had bigger lesions (size ≥40cm2 or the longest size on a single plane ≥5 cm). Nineteen patients (34%) had complications, but only 8 (14.5%) out of them had life or function-threatening complications. Although dosing and treatment protocol is still debatable, steroids and interferon are good options for hemangioma treatment. The management strategy should be individualized for each case.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics., BACKGROUND:Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.METHODS:A high-throughput sequencing strategy of 12 genes linked to HLH was validated in 13 patients with previously identified HLH-associated mutations and prospectively evaluated in 58 HLH patients. Moreover, 2504 healthy individuals from the 1000 Genomes project were analyzed in silico for variants in the same genes.RESULTS:Analyses revealed a mutation detection sensitivity of 97.3%, an average coverage per gene of 98.0%, and adequate coverage over 98.6% of sites previously reported as mutated in these genes. In the prospective cohort, we achieved a diagnosis in 22 out of 58 patients (38%). Genetically undiagnosed HLH patients had a later age at onset and manifested higher frequencies of known secondary HLH triggers. Rare, putatively pathogenic monoallelic variants were identified in nine patients. However, such monoallelic variants were not enriched compared with healthy individuals.CONCLUSIONS:We have established a comprehensive high-throughput platform for genetic screening of patients with HLH. Almost all cases with reduced natural killer cell function received a diagnosis, but the majority of the prospective cases remain genetically unexplained, highlighting genetic heterogeneity and environmental impact within HLH. Moreover, in silico analyses of the genetic variation affecting HLH-related genes in the general population suggest caution with respect to interpreting causality between monoallelic mutations and HLH. A complete understanding of the genetic susceptibility to HLH thus requires further in-depth investigations, including genome sequencing and detailed immunological characterization.

The clinical presentation of tuberculosis (TB) and Hodgkin's lymphoma (HL) with pulmonary involvement is similar and raises problems of differential diagnosis. It may also be difficult to distinguish TB from relapsed lymphoma. The purpose of this study was to evaluate the association of HL and pulmonary TB and to discuss differential diagnosis. Medical records of 70 children were reviewed retrospectively. A total of 27 patients (38%) had mediastinal-pulmonary involvement initially. Systemic symptoms were present in 37 (52%) patients. In all, 14 patients (20%) had pulmonary TB; three of them were diagnosed as having TB before HL, two of them had TB and HL concomittantly at initial diagnosis, seven of them during lymphoma therapy and two of them after the cessation of lymphoma treatment. PPD was positive (>10 mm) only in seven patients. In all, 11 patients with pulmonary TB had diffuse pulmonary infiltrations and mediastinal enlargement at lung contrast-enhanced computed tomography and X-ray, which was difficult to differentiate from HL. Biopsies were performed in five patients. No mortality because of the infection was seen. Only one patient had been lost as relapsed-resistant HL. To evaluate mediastinal lymphadenopathies is very crucial and the differential diagnosis is difficult; hence the association between HL and the TB must be considered especially in countries where TB is highly endemic.