• Archives of Craniofacial Surgery
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• v.22 no.2
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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.

• Korean Journal of Head & Neck Oncology
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• v.39 no.2
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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.

• Korean Journal of Head & Neck Oncology
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• v.39 no.1
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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.

• Archives of Plastic Surgery
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• v.37 no.6
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• pp.819-822
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• 2010

Purpose: Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder. It is characterized by complex neoplastic syndrome with multisystemic manifestations, involving six major features. This article presents a rare genetic disorder and usage of the author's methods for odontogenic keratocyst, developed in the maxillary sinus. Methods: A 67-year-old man was presented with large calcified maxillary mass and multisystemic manifestations and findings that matched with basal cell nevus syndrome. The calcified maxillary mass was removed via the versatile maxillary window and maxillary bone segment was repositioned. Results: Histopathologic findings revealed that maxillary and mandibular lesions were odontogenic keratocysts and the skin lesions were basal cell carcinoma. Conclusion: Basal cell nevus syndrome is a rare genetic disease that requires surveillance and care for basal cell carcinoma and multisystemic problems. The author's method was satisfactory for maxillary odontogenic keratocyst in the aspect of the approach and reconstruction.

• Journal of Korean Dental Science
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• v.4 no.1
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• pp.33-37
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• 2011

Gorlin-Goltz syndrome is an autosomal dominant disorder with a high degree of penetrance. It is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits and ectopic calcifications of falx cerebri. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. Early diagnosis and treatment of Gorlin-Goltz syndrome, as well as family screening and genetic counseling are essential as it may be associated in 10% of patients with aggressive basal cell carcinoma and malignant neoplasias. We report here a patient with Gorlin-Goltz syndrome.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.6
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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.

• Journal of the korean academy of Pediatric Dentistry
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• v.41 no.1
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• pp.34-39
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• 2014

Nevoid basal cell carcinoma syndrome(NBCCS) is a autosomal dominant disorder, and its major manifestations are multiple basal cell carcinoma, keratocystic odontogenic tumor, rib anomalies, palmer and plantar pits, calcification of the falx cerebri. Keratocystic odontogenic tumor(KCOT) is defined as intraosseous tumor of odontogenic origin with a characteristic lining of parakeratinized stratified squamous epithelium and potential aggressive behavior. We report a case of a 3-year-old patient with nevoid basal cell carcinoma syndrome who initially presented with unilocular keratocystic odontogenic tumor in maxillary canine region. Keratocystic odontogenic tumor was treated by enucleation, and periodic follow-up check will be required for early diagnosis of additional diseases related with this syndrome.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.42 no.5
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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.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.32 no.1
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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 Yeungnam Medical Science
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• v.29 no.2
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• pp.141-144
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• 2012

Membranous glomerulonephritis can manifest as a paraneoplastic syndrome. The presence of evidence that supports the relationship between malignancy and membranous glomerulonephritis remains unresolved, though. Membranous glomerulonephritis has been commonly reported as associated with solid or hematologic malignancy, such as lung cancer, prostate cancer, and gastro-intestinal cancer, but its concomitant existence with skin cancer is rare. This paper reports a case of membranous glomerulonephritis combined with basal cell carcinoma that was successfully treated with the excision of the basal skin cell carcinoma.