• 대한두경부종양학회지
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• 제39권1호
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• pp.23-26
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• 2023

Basal cell carcinoma (BCC) is the most common skin cancer. Ultraviolet radiation exposure and genetic predisposition are known to be the most important etiological factors. Multiple BCC is often associated with genetic familial conditions such as BCC syndrome, basal cell nevus syndrome. We present a case of 54-year-old female who had multiple BCC that had reoccurred. She was completely cured after receiving radio-chemotherapy for leukemia 16 years ago. She had multiple lesions (scalp, left thigh, right popliteal fossa, and right buttock), and had underwent wide excisions of all lesions. All biopsies revealed BCC. Six years later, she had also multiple lesions; left forehead, frontal vertex scalp, parietal vertex scalp, right occipital scalp, and lower abdomen. We performed wide excision. Histopathological examination revealed BCC. She had no signs of any BCC associated syndrome. We report a rare case of nonsyndromic multiple BCC that reoccurred at the new site.

• 대한두개안면성형외과학회지
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• 제18권3호
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• pp.191-196
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• 2017

Basal cell carcinoma (BCC) comprising several lesions is not uncommon, but nonsyndromic multiple BCCs with parotid invasion are rare entities. We present two cases of multiple sporadic, nonsyndromic BCCs, and one of these cases is a unique case of parotid invasion associated purely with actinic keratosis. In Case 1, a 79-year-old female presented with multiple skin lesions on the face and left hand. All lesions were completely removed by surgery. The pathologic results showed lesions consistent with BCC and some lesions consistent with actinic keratosis. After 8 months, the patient presented with skin lesions in bilateral temporal areas and left cheek area. Surgical excision of the lesions was performed, and the biopsy results were squamous cell carcinoma in situ and actinic keratosis. In Case 2, a 43-year-old woman presented with multiple skin lesions on the face, scalp, right chest, abdomen and right leg. All lesions were completely removed by surgery. Pathologic evaluation confirmed the diagnosis of BCC. BCC is rarely metastatic, but it can lead to severe disfiguration or destruction. It is important to diagnose and treat BCC at an early stage.

• 대한두개안면성형외과학회지
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• 제22권2호
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• pp.122-125
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• 2021

Basal cell nevus syndrome (BCNS), also known as basal cell carcinoma nevus syndrome, Gorlin syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma, is a rare autosomal dominant disorder with a prevalence of approximately 1/60,000. A lower prevalence rate of 1/13,939,393 has also been reported in Korea. We report the case of a 40-year-old male patient with multiple black pigmented macules on the face that first appeared when he was a teenager. His clinical features of jaw cysts, bifid ribs, and calcification of the falx cerebri were fitting within the criteria for the diagnosis of BCNS. We excised all suspected macules and sent permanent biopsy. Most of the histological examinations of the biopsy samples taken during surgical excision of the face masses showed basal cell carcinomas. Ten months after the surgery, the patient has remained free from symptoms and is undergoing follow-up observation.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제36권6호
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• pp.292-297
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal genetic disease caused by a PTCH mutation. The disease is characterized by multiple basal cell carcinomas of the skin, multiple keratocystic odontogenic tumors (KCOTs) in the jaw, palmar and/or plantar pits, bifid ribs, ectopic calcification of the falx cerebri, and skeletal abnormalities. Early diagnosis is difficult in many cases because there may be a number of systemic symptoms. The purpose of this study is to report the case of a 12-year-old girl who was hospitalized with multiple KCOTs that occurred in the upper and lower jaws. Through characteristic clinical symptoms and radiologic findings, she was finally diagnosed as having NBCCS. This study also aims to organize the symptoms often observed in Korea using previously published case reports to provide useful information for the early diagnosis of NBCCS.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제36권1호
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• 대한두개안면성형외과학회지
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• 제22권3호
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• pp.173-176
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• 2021

Basal cell carcinoma is a malignant epithelial neoplasm of the skin and the most common human skin cancer. It is generally associated with a good prognosis. In this case report, a giant basal cell carcinoma of the nodulo-ulcerative type showing wide ulceration with marginal multiple small nodules, is presented. It was trapezoidal in shape, having dimensions of 7 cm at the greatest basal width, 6 cm vertically with different anterior and posterior margin dimensions, and 5 cm horizontally at the top margin. After wide excision of the lesion including 5-10 mm safety margins, the wound was reconstructed with a local skin flap and split-thickness skin graft. The reconstructed wound healed well without recurrence for 1 year.

• 대한두개안면성형외과학회지
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• 제21권3호
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• pp.202-205
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• 2020

Trichoepithelioma is a benign hair follicle tumor that can undergo malignant transformation into basal cell carcinoma in rare cases. Due to the similar clinical and histological features of trichoepithelioma and basal cell carcinoma, distinguishing between these types of tumors can be a diagnostic challenge. Punch biopsy obtains only a small sample of the entire lesion, and thus inherently involves a risk of misdiagnosis between histologically similar diseases. Therefore, if the possibility of misdiagnosis can reasonably be suspected, clinicians should conduct an excisional biopsy or immunohistochemical staining (e.g., CD10 and Bcl-2) to ensure an exact diagnosis. Although trichoepithelioma is benign, the surgical excision of solitary trichoepithelioma should be considered in order to avoid the possibility of malignant transformation, which has occasionally been documented for multiple familial trichoepitheliomas. Herein, we report a case that was initially misdiagnosed as trichoepithelioma before ultimately being diagnosed as basal cell carcinoma through excision and immunohistochemical staining.

• 대한두경부종양학회지
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• 제39권2호
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• pp.19-22
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• 2023

Nevoid basal cell carcinoma syndrome is a rare disease that can be accompanied by various clinical symptoms in addition to basal cell carcinoma. Cancers usually occur at an earlier age or later in multiple areas. According to a recent study, genetic mutations are highly suspected as the cause of the syndrome. Since this gene mutation is inherited as an autosomal dominant, it must be accompanied by a screening test for the patient's family along with the patient's treatment. In this study, we was experienced a patient diagnosed with nevoid basal cell carcinoma syndrome after genetic mutation was confirmed, so it is reported along with a review of the literature.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제32권1호
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• pp.81-85
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• 2010

Multiple jaw cysts are one of the most constant features of the basal cell nevus syndrome. Basal cell nevus syndrome is inherited as an autosomal dominant trait with variable expressiveness. This syndrome comprises a number of abnormalities such as multiple nevoid basal cell carcinomas of the skin, skeletal abnormalities as bifid rib and fusion of vertebrae, central nervous system abnormalities as mental retardation, eye abnormalities with multiple jaw cysts. The odontogenic keratocysts in patients with this syndrome are often associated with the crowns of unerupted teeth and huge size; on radiographs they may mimic dentigerous cysts. The most important feature of the cyst is its extraordinary recurrence rate. Since recurrence may be long delayed in this lesion, follow-up of any case of odontogenic keratocyst with roentgenograms and clinical examination of basal cell carcinoma are essential for at least five years after surgery. We report the result of 7-year follow up after cyst enucleation associated with basal cell nevus syndrome with the literature of review.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제42권5호
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• pp.284-287
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• 2016

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients. In NBCCS, KCOTs typically occur in multiples. KCOTs can be detected in patients under the age of 10, and new and recurring cysts develop until approximately the age of 30. The postoperation recurrence rate is approximately 60%. This case report presents a 14-year-old female patient with a chief complaint of a cyst found in the maxilla and mandible. The patient was diagnosed with NBCCS, and following treatment of marsupialization and enucleation, the clinical results were satisfactory.