• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.220-225
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• 2018

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent $M{\ddot{u}}llerian$ duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

• Journal of Korean Foot and Ankle Society
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• v.22 no.4
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• pp.151-155
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• 2018

Purpose: Toe ulcers have been implicated as a causative factor in diabetic foot amputation. The aim of this study was to evaluate the outcomes of percutaneous needle flexor tenotomies of diabetic claw toes with ulcers or pending ulcers. Materials and Methods: The authors undertook a retrospective chart review between January 2014 and June 2016 to identify those patients who underwent a percutaneous needle flexor tenotomy for diabetic claw toe deformities. We evaluated 54 toes in 42 patients. Twenty-four patients were female and the mean age at the time of operation was 57 years. The mean follow-up time was 11 months. Thirty-four patients (46 toes) had tip toe ulcers or pending ulcers and 8 patients (8 toes) had dorsal pending ulcers. All patients had palpable pulses and good capillary refill. Results: Forty-three of 46 tip toe ulcers (93.5%) healed without significant complications and 8 dorsal ulcers showed no specific changes within 5 weeks. There were no recurrent ulcers at final follow-up. Four patients developed transfer lesion of the adjacent toe and needed subsequent tenotomy. Conclusion: Percutaneous needle tenotomy in an outpatient clinic was an effective and safe method for treating toe ulcers in neuropathic patients to offload the tip of the toe so that ulcer healing could occur.

• Archives of Craniofacial Surgery
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• v.20 no.3
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• pp.186-190
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• 2019

Myxomas can be divided into two groups: those derived from the facial skeleton, and those derived from external skeletal soft tissue. Soft tissue myxomas of the head and neck are uncommon, with fewer than 50 cases reported. In any form and location, myxoma of parotid gland is rare. We report a case of myxoma arising from the left superficial lobe of the parotid gland with good long-term follow-up after superficial parotidectomy with tumor excision. A 49-year-old man was referred to our department of plastic and reconstructive surgery with a painless palpable mass that had persisted in the left mandible angle region for 2 years. Excision of the facial mass and superficial parotidectomy with facial nerve preservation were performed. The biopsy result was myxoma. Long-term follow-up for 22 months showed favorable results without evidence of recurrence but with temporary facial nerve weakness right after the surgery. Myxoma should be considered as a differential diagnosis when benign tumor of the parotid gland is being considered.

• Journal of Korean Foot and Ankle Society
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• v.25 no.4
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• pp.185-189
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• 2021

An aneurysmal bone cyst (ABC) can occur in many parts of the human body, but a primary ABC of the talus is extremely rare. ABCs are benign, but aggressively growing tumors that usually occur in the first two decades of life. Patients mainly complain of pain, limited movement of the involved joint or a palpable mass. Pain may worsen suddenly because of pathological fractures. If not treated properly, ABC has a risk of local recurrence, followed by the destruction of the joint and a significant functional deficit. While the complete removal of the bone tumor is essential, it is also important to treat the resultant bone defect after removal. The talus has an important part to play in weight-bearing. Therefore, an appropriate bone graft is required for large bone defects that occur after an ABC removal from the talus. We report a primary ABC of the talus in a 28-year-old male that was treated by curettage and a bone pillar pattern graft of autologous tricortical iliac crest bone. The patient had an excellent functional outcome with early weight-bearing, and there was no recurrence at 16 months of follow-up.

• Archives of Craniofacial Surgery
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• v.24 no.4
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• pp.189-192
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• 2023

An intraosseous hemangioma of the frontal bone is typically removed via a coronal incision. This procedure, while effective, can be lengthy and may result in complications such as a prominent scar and hair loss. An alternative approach involves a direct incision in the forehead, which leaves a less noticeable scar and allows a quicker recovery. However, in this specific case, the patient declined both coronal surgery and surgery through a direct forehead incision due to cosmetic concerns. Therefore, we proposed an anterior hairline incision. A 35-year-old woman presented with a firm, non-mobile, palpable mass on her right forehead. Preoperative non-contrast computed tomography revealed a heterogeneous osteolytic lesion. We performed an excisional biopsy through the anterior hairline. Postoperative non-contrast computed tomography was conducted 2 and 6 months after surgery. The wound was clean and free of complications, and there was no local recurrence. Partial resection can reduce scarring for patients who are concerned about cosmetic outcomes. However, the potential for recurrence remains a significant concern. We present this case of an anterior hairline incision for a hemangioma located in the forehead, evaluated using serial computed tomography for both preoperative and postoperative imaging.

• Archives of Plastic Surgery
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• v.50 no.3
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• pp.248-253
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• 2023

Metal fixation systems for cranial bone flaps cut by a drill are convenient devices for cranioplasty, but cause several complications. We use modified craniotomy using a fine diamond-coated threadwire saw (diamond T-saw) to reduce the bone defect, and osteoplasty calcium phosphate cement without metal fixation. We report our outcomes and tips of this method. A total of 78 consecutive patients underwent elective frontotemporal craniotomy for clipping of unruptured intracranial aneurysms between 2015 and 2019. The follow-up periods ranged from 13 to 66 months. The bone fixation state was evaluated by bone computed tomography (CT) and three-dimensional CT (3D-CT). The diamond T-saw could minimize the bone defect. Only one wound infection occurred within 1 week postoperatively, and no late infection. No pain, palpable/cosmetically noticeable displacement of the bone flap, fluid accumulations, or other complications were observed. The condition of bone fixation and the cosmetic efficacy were thoroughly satisfactory for all patients, and bone CT and 3D-CT demonstrated that good bone fusion. No complication typical of metal fixation occurred. Our method is technically easy and safety, and achieved good mid-term bone flap fixation in the mid-term course, so has potential for bone fixation without the use of metal plates.

• Journal of the Korean Orthopaedic Association
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• v.54 no.3
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• pp.276-280
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• 2019

Hepatocellular carcinoma is one of the most common cancers worldwide. Extrahepatic metastasis commonly occur in the lung, lymph, nodes, bone, and adrenal glands. On the other hand, a metastasis of hepatocellular carcinoma to the skeletal muscle is rare. A 42-year-old woman presented for evaluation of a palpable mass with tenderness in her right thigh area. She has been diagnosed with hepatocellular carcinoma and pulmonary metastasis seven years ago and has received treatment. We performed incisional biopsy with suspicion of hepatocellular carcinoma metastasis from imaging studies and blood test results. The patient was finally diagnosed with metastasis of hepatocellular carcinoma in the semimembranosus muscle and treated by extensive resection. We report this case with a review of the relevant literature.

• Journal of the Korean Society of Radiology
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• v.82 no.4
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• pp.1000-1004
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• 2021

Percutaneous transthoracic needle biopsy (PTNB) is a minimally-invasive procedure that is an indispensable tool for evaluating pulmonary lesions. Though extremely rare, tumor seeding of the pleura and chest wall can occur as a complication. Given that the breast is located anterior to the thorax, needle tracking through the breast is inevitable when PTNB is performed using the anterior approach. We describe tumor seeding of metastatic pulmonary ameloblastoma in the pectoralis muscle layer of the breast along the needle track of PTNB in a 51-year-old female presenting with a palpable lump in the right breast.

• Journal of the Korean Society of Radiology
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• v.82 no.3
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• pp.729-736
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• 2021

Multiple primary malignant neoplasms refer to two or more malignancies in an individual that are not related. We report a case of a 78-year-old male with concurrent breast mucinous carcinoma and extramammary lymphoma. The patient initially presented with palpable masses in the left breast and the right groin, which were pathologically confirmed after a surgical biopsy as breast mucinous carcinoma and diffuse large B-cell lymphoma, respectively. He underwent whole-body 18-fluorine deoxyglucose PET/CT before surgery, and an enhancing nodular lesion in the left lingual tonsil was found incidentally. It was later confirmed as a diffuse large B-cell lymphoma, a pathology of the same type as the right inguinal mass. Unspecified lymphadenopathies in breast cancer patients may easily be considered as metastatic lesions. However, this case suggests that lymphomas should be included in the differential diagnoses to avoid misdiagnosis and treatment delay, especially in older adult patients.

• Journal of the Korean Society of Radiology
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• v.81 no.5
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• pp.1266-1271
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• 2020

We report herein a 46-year-old woman who presented with mucinous breast carcinoma that appeared as a coarse and densely calcified mass on mammography. The lesion was a 4.6-cm-sized palpable, hyperechoic, calcified mass with posterior shadowing on ultrasonography. This finding is a unique feature of mucinous breast carcinoma and is also observed in unusual breast cancer variants such as metaplastic breast cancer with chondroid differentiation, extraosseous osteosarcoma, and breast chondrosarcoma. The lesion showed a slow-growing pattern throughout the 4-year observation period. Mammography performed 4 years ago revealed faint, grouped microcalcifications; the lesion increased in size over 2 years, presenting as a well-circumscribed, calcified mass, mimicking dystrophic calcification. As several unusual variants of breast cancer, including mucinous carcinoma, may present as coarse and densely calcified masses on mammography, immediate biopsy should be considered when they are observed.