Basal cell nevus syndrome is a rare autosomal dominant disorder with a prevalence of between 1in 60,000 to 1in 120,000. This disorder is associated with a panoply of phenotypic that includes developmental anomalies and tumors particularly basal cell carcinoma. The genetic abnormality in almost all known cases is a mutation in the PATCHED] gene which is essential for normal body and limb patterning.? abnormalities We report a 50-year-old Filipina who suffered from multiple recurrent pigmented papules, plagues, nodules, and tumors on the face with the first tumor appearing at age 20.
Basal Cell Nevus Syndrome

Palatal radicular groove is a developmental malformation of maxillary incisors, lateral incisors in particular, which often causes periodontal destruction. This paper reports a case of combined periodontal-endodontic lesions induced by palatal radicular groove, which was initially misdiagnosed as a simple periapical cyst. After root canal therapy and periapical cyst curettage, the course of disease was prolonged, resulting in the absence of buccal and maxillary bone plates in the affected tooth area. After the etiology was determined, the affected tooth was extracted and guide bone tissue regeneration was performed at the same time, followed by implantation and restoration at the later stage, leading to clinical cure. The palatal radicular groove is highly occult, and the clinical symptoms are not typical. If the abscess of the maxillary lateral incisor occurs repeatedly, and the abscess of the maxillary lateral incisor has not been cured after periodontal and root canal treatment, cone-beam computed tomographic and periodontal flap surgery should be considered.
Humans ; Incisor ; Radicular Cyst ; Abscess ; Tooth Root/abnormalities* ; Root Canal Therapy ; Maxilla ; Cysts

Objective To evaluate the accuracy of different convolutional neural networks (CNN),representative deep learning models,in the differential diagnosis of ameloblastoma and odontogenic keratocyst,and subsequently compare the diagnosis results between models and oral radiologists. Methods A total of 1000 digital panoramic radiographs were retrospectively collected from the patients with ameloblastoma (500 radiographs) or odontogenic keratocyst (500 radiographs) in the Department of Oral and Maxillofacial Radiology,Peking University School of Stomatology.Eight CNN including ResNet (18,50,101),VGG (16,19),and EfficientNet (b1,b3,b5) were selected to distinguish ameloblastoma from odontogenic keratocyst.Transfer learning was employed to train 800 panoramic radiographs in the training set through 5-fold cross validation,and 200 panoramic radiographs in the test set were used for differential diagnosis.Chi square test was performed for comparing the performance among different CNN.Furthermore,7 oral radiologists (including 2 seniors and 5 juniors) made a diagnosis on the 200 panoramic radiographs in the test set,and the diagnosis results were compared between CNN and oral radiologists. Results The eight neural network models showed the diagnostic accuracy ranging from 82.50% to 87.50%,of which EfficientNet b1 had the highest accuracy of 87.50%.There was no significant difference in the diagnostic accuracy among the CNN models (P=0.998,P=0.905).The average diagnostic accuracy of oral radiologists was (70.30±5.48)%,and there was no statistical difference in the accuracy between senior and junior oral radiologists (P=0.883).The diagnostic accuracy of CNN models was higher than that of oral radiologists (P<0.001). Conclusion Deep learning CNN can realize accurate differential diagnosis between ameloblastoma and odontogenic keratocyst with panoramic radiographs,with higher diagnostic accuracy than oral radiologists.
Humans ; Ameloblastoma/diagnostic imaging* ; Deep Learning ; Diagnosis, Differential ; Radiography, Panoramic ; Retrospective Studies ; Odontogenic Cysts/diagnostic imaging* ; Odontogenic Tumors

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Objective:To investigate the feasibility and clinical effect of the surgical approach and method of transnasal fenestration under nasal endoscope for the treatment of maxillary odontogenic cyst. Methods:The clinical data of 23 cases with maxillary odontogenic cysts treated by nasal endoscopy through nasal fenestration were retrospectively analyzed. All cases underwent nasal endoscopy and CT examination before the operation. The mucosal membrane of the parietal wall of the cyst was excised through fenestration of the nasal base. The cyst fluid was removed by decompression, and the bony opening of the nasal base was trimmed and enlarged to the edge of the cyst. The intraoperative and postoperative effects were observed. Results:All cases were well exposed under the direct vision of nasal endoscope. The top wall of the cyst was removed to maximize the communication between the cyst cavity and the nasal floor. There were no complications such as nasolacrimal duct injury, turbinate atrophy, necrosis, and facial numbness. All patients were followed up for 6-12 months, and the clinical symptoms gradually disappeared after surgery. The inferior turbinate was in good shape, the cyst cavity was smooth, the cyst wall was determined, and no cyst recurrence was observed. Conclusion:The treatment of odontogenic cyst of maxilla under nasal endoscope through nasal fenestration is convenient. It has less trauma, fewer complications and a satisfactory curative effect, which is worthy of clinical promotion.
Humans ; Maxilla ; Retrospective Studies ; Odontogenic Cysts/surgery* ; Endoscopy ; Turbinates/surgery* ; Endoscopes

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Ten years ago, the systemic mass appeared, especially on the face, but it was not treated. Later, these masses gradually increased in volume and number, and showed invasive properties. The nasal mass was broken and suppurated, seriously affecting the patient's life quality. The patient came to the hospital to improve the symptoms. Staphylococcus aureus and Providencia rettgeri were cultured in the patient's nasal secretions. Nasal sinus enhanced MRI showed that the subcutaneous soft tissue of the right cheek and the anterolateral mucosa of the left nasal cavity were invaded, indicating multiple malignant skin lesions. After admission, local anesthesia was performed and some masses were removed. Pathological examination of the mass showed basal cell carcinoma. After general anesthesia, multiple masses were resected. The postoperative pathological examination showed that multiple basal cell carcinoma invaded the deep dermis near subcutaneous fat layer. Combined with the results of clinical and immunohistochemical examination, the patient was diagnosed as NBCCS. There were no clear tumor thrombus in the vessel and no nerve invasion. No recurrence or new tumor was found after 1 year follow-up. The incidence rate of NBCCS is low and clinical symptoms are different. The patient's life quality is poor and the patient needs long-term individualized treatment.
Aged ; Basal Cell Nevus Syndrome/surgery* ; Carcinoma, Basal Cell/surgery* ; Child ; Female ; Hamartoma Syndrome, Multiple ; Humans ; Magnetic Resonance Imaging

Objective: To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Methods: Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Genomic DNAs were extracted from fibrous capsules and epithelial lining respectively. SMO mutations were detected and analyzed by Sanger sequencing. Results: Three SMO mutations were found in one NBCCS-associated OKC who carrying c.2081C>G (p.P694R) mutation) and two sporadic OKC who carrying c.907C>T (p.L303F) mutation and c.1247_1248delinsAA (p.G416E), respectively), among which the first two mutations were novel mutations that had not been reported before. Besides, two mutations in sporadic OKC were not paired with PTCH1 mutations. Conclusions: In addition to PTCH1 gene mutations, SMO gene mutations also exist in OKC which might be related to the development of OKC.
Basal Cell Nevus Syndrome/genetics* ; Female ; Humans ; Male ; Mutation ; Odontogenic Cysts/genetics* ; Odontogenic Tumors/genetics* ; Smoothened Receptor/genetics*

Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, is a rare autosomal dominant genetic disease. It is thought to be caused by a mutation in the PTCH1 gene, and its incidence is 1/57 000 to 1/256 000. The case of a 7-year-old patient with BCNS and Duchenne muscular dystrophy was reported in this paper.
Basal Cell Nevus Syndrome/diagnosis* ; Child ; Humans ; Muscular Dystrophy, Duchenne ; Mutation

Among the ghost cell lesions, Dentinogenic Ghost Cell Tumors (DGCT) are among the rarest. We report a case of a 45-year-old Filipino man, who presented with a right mandibular mass. Microscopic examination showed a solid neoplasm composed of islands of odontogenic epithelium with areas showing aberrant keratinization forming ghost cells and dentinoid material. We also discuss the pertinent differential diagnosis of ghost cell-containing odontogenic tumors. We report this case due to its rarity, its morphological resemblance to ameloblastoma, and its potential for malignant transformation.
Odontogenic Cysts ; Odontogenic Tumors

OBJECTIVE: To analyze the three-dimensional radiographic characteristics of maxillary radi-cular cysts using cone-beam computed tomography (CBCT) and spiral CT. METHODS: Clinical records, histopathological reports, and CBCT or non-enhanced spiral CT images of 67 consecutive patients with maxillary radicular cysts were retrospectively acquired, and radiographic features, including size, shape, expansion, internal structure and relationship with the surrounding tissues, were analyzed. The lesions were divided into three types according to the involved tooth number, as follows: type Ⅰ (single tooth), the epicenter of the cyst was located at the apex of a nonvital tooth, without involvement of the neighbo-ring tooth; type Ⅱ (adjacent tooth involvement), the cyst was located at the apex of a nonvital tooth with involvement of the mesial and/or distal tooth root; and type Ⅲ (multi-teeth), the cyst involved the apexes of ≥4 teeth. Besides, these cysts were classified as another three types on sagittal views, as follows: centripetal, the root apex was oriented centripetally to the center of the cyst; palatal, the cyst was located mainly at the palatal side of the apex; and labial/buccal, the cyst was located mainly at the labial/buccal side of the apex. RESULTS: Totally, 67 patients with maxillary radicular cysts were acquired, including 38 males and 29 females, and their ages ranged from 13 to 77 years. Among them, 46 lesions (68.7%) were located in the anterior maxilla and 65 (97.0%) were round or oval. Labial/buccal cortex expansion was present in 43 cases (64.2%) and palatal cortex expansion in 37 cases (55.2%). The nasal floor was invaded in 27 cases (40.3%), the maxillary sinus was invaginated in 26 cases (38.8%), and root resorption was present in 9 cases (13.4%). The average diameter of lesions was (20.89±8.11) mm mesio-distally and (16.70±5.88) mm bucco-palatally. In spite of the 4 residual cysts, the remaining 63 lesions included 14 type Ⅰ, 26 type Ⅱ and 23 type Ⅲ cysts according to the involved tooth number. Besides, the 63 lesions included 46 centripetal, 15 palatal and 2 buccal cysts on sagittal views. CONCLUSION The maxillary radicular cysts were frequently well-circumscribed round or oval radiolucency, with significantly different sizes. According to the involved tooth number, it can be divided into single tooth, adjacent tooth involvement and multi-teeth types. On sagittal views, the root-cyst relationship was centripetal in most cases, while a minority of cysts expanded palatally or buccally.
Adolescent ; Adult ; Aged ; Cone-Beam Computed Tomography ; Female ; Humans ; Male ; Maxilla/diagnostic imaging* ; Middle Aged ; Radicular Cyst/diagnostic imaging* ; Retrospective Studies ; Tooth Root ; Young Adult