• Archives of Craniofacial Surgery
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• v.20 no.2
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• pp.139-143
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• 2019

Here we report a case of a focal atypical proliferative nodule (PN) arising from a congenital melanocytic nevus (CMN). Diagnosis was challenging because it had both benign and malignant clinical features. Unusual histopathology, immunohistochemistry, and intraoperative findings of this atypical PN are discussed. A 5-year-old girl was admitted for a congenital $5{\times}5cm$ sized scalp mass. This hemangioma-like soft mass showed biphasic characteristics such as a slow, gradual, and benign increase in size but worrisome dural invasion with cranial bone defect. We removed the scalp mass with clear resection margins. Interoperatively, we found that the cranial bone defect had already filled. Histopathologic examination showed CMN with focal atypical PN. The nodule showed sharp demarcation and cellular pleomorphism. However, in immunohistochemical study, Ki-67 proliferation index and expression levels of protein S-100 and Melan-A were very low. These were unusual findings of atypical PNs. Despite her worrisome preoperative radiologic features, she showed an indolent clinical course compatible with previously reported biologic behavior. The patient underwent follow-up inspection with magnetic resonance imaging every 6 months for up to 3 years. The nodule appeared to be stationary at the last visit.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.2
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• pp.127-134
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• 2021

Purpose: In patients with acute enterocolitis, radiologic findings are sometimes accompanied by secondary inflammation of the appendix. The purpose of this study was to evaluate the clinical features of acute enterocolitis with secondary inflammation of the appendix. Methods: Medical records from patients who underwent abdominal ultrasonography or computed tomography (CT) among those admitted for acute enterocolitis were retrospectively reviewed. Clinical features were compared by distinguishing patients with inflammation of the appendix from those without, based on their symptoms and laboratory findings. Results: Of the 165 patients, 12 (7.3%) had secondary inflammation of the appendix on ultrasonography and/or CT. Patients with secondary inflammation of the appendix were significantly older than those without (11.7 vs. 6.1 years, p=0.011) and more frequently had fever (83.3% vs. 49.0%, p=0.033), and high values of C-reactive protein (CRP) (5.38 vs. 0.32 mg/dL, p<0.001). The proportion of bacterial pathogens was higher in patients with secondary inflammation of the appendix (60% vs. 15.1%, p=0.004). Conclusion: Patients with acute enterocolitis accompanied by secondary appendicitis more commonly have fever, higher CRP levels, higher bacterial pathogen detection rates, and longer hospital stays. Treatment equivalent to that of bacterial infection is required for patients with secondary appendicitis, and that their symptoms should be closely and continuously monitored and followed-up.

• Archives of Plastic Surgery
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• v.50 no.4
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• pp.384-388
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• 2023

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 (PTCH1) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin-Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.

• Journal of the Korean Society of Radiology
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• v.81 no.4
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• pp.832-851
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• 2020

Physical abuse is a significant cause of morbidity and mortality in the pediatric population. Young children, particularly in the first year of life, are most vulnerable to physical abuse. To evaluate suspected physical abuse, radiologists play a vital role by detecting radiological findings suggestive of physical abuse and differentiating them from other pathologies. This review focuses on radiologic findings, including those for fractures, abusive head trauma, spinal injury, and thoracoabdominal injury, commonly discovered in physically abused children, with special emphasis on biomechanical forces that produce injuries.

• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.737-742
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• 2021

Primary neuroendocrine carcinomas of the breast are a rare, distinct category of breast carcinomas that require immunohistochemical staining for diagnosis. Currently, there is not enough evidence on the clinical pattern, prognosis, and proper management of the disease. Only few case series have described the imaging findings of neuroendocrine carcinomas of the breast. We herein present a case of a primary neuroendocrine carcinoma of the breast (small cell) presenting as a locally aggressive tumor with metastatic disease, and describe the radiologic findings.

• Journal of the Korean Society of Radiology
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• v.82 no.5
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• pp.1321-1327
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• 2021

Neurofibromatosis type 1 (NF1) is a relatively common inherited disorder characterized by the formation of neurofibromas, pigmentary abnormalities of the skin, Lisch nodules of the iris, and skeletal abnormalities. Multiple cutaneous neurofibromas are benign nerve sheath tumors and the main manifestation of NF1. Cardiac neurofibroma associated with NF1 is very rare, and few cases have been reported in the literature. Herein, we present the CT and MRI findings of a surgically confirmed left ventricular neurofibroma in a 32-year-old female with NF1.

• Journal of the Korean Society of Radiology
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• v.82 no.6
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• pp.1575-1580
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• 2021

Cardiac tumors are rare diseases with various imaging findings. However, differentiating cardiac tumors based on imaging findings is challenging because of similarities in imaging features. We present two cases of cardiac tumors, including primary cardiac lymphoma and cardiac metastasis, in which the differential diagnosis was difficult.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.1134-1140
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• 2022

Mixed tumors are well-circumscribed lesions exhibiting epithelial and/or myoepithelial cells and they usually occur in the skin and salivary glands. Soft tissue mixed tumors are extremely rare. Therefore, radiographic findings of soft tissue mixed tumors have very rarely been described in the radiologic literature. Here, we report a rare case of subungual mixed tumor in a 65-year-old female who presented with left 2nd finger pain, describe the radiographic findings, and discuss the differential diagnosis of the tumor.

• Journal of the Korean Society of Radiology
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• v.84 no.5
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• pp.1176-1180
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• 2023

Granular cell tumors (GCTs) are rare soft tissue tumor, originating from neural or perineural cells. We present a case of axillary GCT in a 69-year-old woman with breast cancer history and discuss the various radiologic findings. US revealed a circumscribed oval heterogeneous iso- and hyperechoic mass in the left axilla. Chest CT showed a well-defined, oval, and mildly enhancing mass in the left axilla on the lateral aspect of the pectoralis muscle. A final diagnosis of GCT was made through US-guided core needle biopsy. Follow-up US showed no significant changes in the axillary GCT. Familiarity with GCT may facilitate early diagnosis and subsequent management.

• Korean Journal of Radiology
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• v.22 no.8
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• pp.1416-1435
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• 2021

Non-infectious granulomatous lung disease represents a diverse group of disorders characterized by pulmonary opacities associated with granulomatous inflammation, a relatively nonspecific finding commonly encountered by pathologists. Some lesions may present a diagnostic challenge because of nonspecific imaging features; however, recognition of the various imaging manifestations of these disorders in conjunction with patients' clinical history, such as age, symptom onset and duration, immune status, and presence of asthma or cutaneous lesions, is imperative for narrowing the differential diagnosis and determining appropriate management of this rare group of disorders. In this pictorial review, we describe the pathologic findings of various non-infectious granulomatous lung diseases as well as the radiologic features and high-resolution computed tomography imaging features.