Malignant Perivascular Epitheloid Cell Tumor with an Unusual Immunophenotype in a Ten-Year-Old Child.

Introduction: Perivascular epitheloid cell tumors (PEComa) represent a group of usually benign mesenchymal neoplasms. Malignant variants are usually found only in adults.Case: We present a 10-year-old girl with infraclavicular malignant PEComa, negative for HMB-45 and Melan A but focally positive for MITF.Conclusion: To the best of our knowledge, no malignant variant of PEComa has been described in soft tissue in a child. Generally, PEComas are immunoreactive for HMB-45 and/or Melan A while our case was negative for both. Further studies are necessary to elucidate the significance of this immunohistochemical finding.

Ungual fibroma in 12-year-old boy with hypomelanotic macules, intellectual disability and attention deficit hyperactivity disorder-possible tuberous sclerosis.

OBJECTIVE: To report a case of a 12-year-old boy with intellectual disability and attention deficit hyperactivity disorder, who came to surgery for an examination due to a minor bulge on the left thumb, which had been growing for the previous month. His mother denied any trauma. METHODS: After the removal of the clinically ambiguous bulge and a pathohistological confirmation that it was a periungual fibroma, complete patient analysis was performed due to the presence of hypomelanotic macules and a suspected tuberous sclerosis. RESULTS: Considering the presence of hypomelanotic macules, as one of the main criteria, possible TS diagnosis was set. CONCLUSION: Early detection of the symptoms of TS enables a timely provision of protocols for further patient monitoring, which affects the patient's morbidity and mortality.

Does elevated urinary 5-hydroxyindole acetic acid level predict acute appendicitis in children?

BACKGROUND: Acute appendicitis is the most common abdominal surgical emergency in children, and appendectomy is the most frequent acute abdominal operation. Prompt diagnosis and surgical treatment are required to reduce the risk of perforation and prevent complications, especially in small children. Enterochromaffin cells that contain large amounts of serotonin are mostly located in the distal appendix. Serotonin metabolite 5-hydroxyindoleacetic acid (5-HIAA) could therefore be a marker for acute appendicitis. OBJECTIVE: We tested urinary 5-HIAA concentrations in spot urine samples from children with acute appendicitis. METHODS: We enrolled 93 patients who underwent surgery for suspicion of acute appendicitis. The diagnosis was made intraoperatively and confirmed histopathologically. Additionally, urine samples from 102 healthy children were collected as controls. Their 5-HIAA was measured using high-performance liquid chromatography. RESULTS: Acute appendicitis was diagnosed in 81 patients, whereas there were other explanations for abdominal pain in the remaining 12 patients in the non-appendicitis group. The control group comprised 102 healthy children. Considering the median of all measured 5-HIAA values as the cut-off, we analysed the proportions of patients with elevated values in all the groups. Our analysis showed that statistically there was no significant difference in the distribution of percentages among the groups. The area under the curve for 5-HIAA was 0.55 (95% CI 0.47 to 0.62) with sensitivity and specificity 60.4% and 48.9%, respectively. CONCLUSIONS: Urine 5-HIAA concentration measured in spot samples is not a reliable method for diagnosing acute appendicitis in children.

Cellular Blue Nevus Diagnosed following Excision of Melanoma: A Challenge in Diagnosis.

A case of a 41-year-old woman with a history of nodular melanoma (NM), associated with an indurated dome-shaped blue-black nodule with a diameter of 1.2 cm in the gluteal region, is presented. Clinical diagnosis of the lesion, present from birth, was blue nevus. Recently, the nodule has been showing a mild enlargement and thus complete resection was performed. Histological analysis revealed a pigmented lesion with an expansive pattern of extension into the dermis and the subcutaneous adipose tissue. The lesion displayed an alveolar pattern as well as a pigmented dendritic cell pattern. The histology was consistent with cellular blue nevus (CBN); however, the history of NM which was excised one year earlier, as well as the clinical information about the slow growing lesion, included a differential diagnosis of CBN, borderline melanocytic tumor, and malignant blue nevus. Additional immunohistochemical (HMB-45, p16, and Ki-67) and molecular (BRAF V600E mutation) analyses were performed on both lesions: the CBN-like and the previously excised NM. Along with lesion history and histological analyses, p16 staining and BRAF were useful diagnostic tools for confirming the benign nature of CBN in this case.

Imperforate hymen presenting as vaginal cyst in a 16-month-old child - considerations for an early diagnosis.

Imperforate hymen is a congenital anomaly of female external genitalia, which is mostly diagnosed in puberty, at the age of 9-13 years, or very rarely at a younger age. Clinical picture varies from abdominal pain and low back pain to acute urinary retention. We describe a case of a 16-month-old female infant where the imperforate hymen presented as a vaginal cyst. The cyst was first observed by the patient's mother, although the child had been examined by a paediatrician on several occasions after birth. Complete workup performed for differential diagnosis, mostly to exclude other reproductive system anomalies, led to the final diagnosis of imperforate hymen. The aim of this report is to emphasise the necessity of thorough examination of genitalia in female newborns in order to avoid possible complications associated with this diagnosis later in life, as well as other, more severe differential diagnostic anomalies.

Efficacy of Hydrofiber Silver Dressing in the Treatment of Posttraumatic Skin Wounds in Children.

Three case reports on conservative treatment of posttraumatic open conquassant wounds in children are presented. In 2 cases, the wounds opened after rejection of a previously applied skin graft, whereas in the third case, the wound was consequential to toe amputation and treated conservatively. Based on the authors' long-standing favorable experience with this type of dressing in healing of deep burns in children, treatment was continued with the use of a hydrofiber supportive silver-containing dressing (AQUACEL Ag, ConvaTec, Bridgewater, NJ). From the beginning of treatment, wound dressing was performed on an outpatient basis and without antibiotic therapy. The wounds healed within 4-8 weeks. The process of wound healing and treatment, the mechanisms that may compromise it, and the possibilities offered by hydrofiber silver dressing in conservative treatment of posttraumatic conquassant skin wounds are discussed.

Appendectomy in a child with cyclic neutropenia in profound neutropenic episode.

Our experience in the treatment of a 4-year-old boy with cyclic neutropenia who was admitted for urgent appendectomy is described. The postoperative course was uneventful with high daily doses of granulocyte colony-stimulating factor and antimicrobial therapy. The purpose of this report is to highlight the importance of immediate appendectomy in neutropenic patients, wherein low absolute neutrophil count should not be considered as a contraindication for urgent surgical procedure.

Dirofilaria repens infection in a ten-year-old boy from the Istria Peninsula: case report.

Dirofilariasis is a zoonotic infection caused by worms belonging to the genus Dirofilaria. The disease is transmitted by mosquitoes and the hosts are usually dogs. Infections in humans are rare and they usually manifest as a subcutaneous nodule or a conjunctival form. We present a 10-year-old boy with a subcutaneous nodule on his left forearm, who was admitted to the hospital. On examination, the only significant findings were high levels of eosinophils. The pediatrician suspected dirofilariasis and the boy was referred to pediatric surgery. The whole lesion was surgically removed and histopathologic examination confirmed parasitic infection by Dirofilaria repens. Although human dirofilariasis is a rare disease, the number of reported cases has recently increased worldwide. The disease mainly occurs in southern European countries, but has also been described in eastern Europe, Central Asia and Sri Lanka. Croatia is one of the endemic areas for dirofilariasis, especially in the region of the Istria Peninsula. The case presented highlights the requirement for further monitoring of endemic areas in order to establish effective preventive measures.