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OBJECTIVE: The aim of this study was to analyse the facial characteristics and the craniofacial morphology in GGS patients in order to enable an early diagnosis.
BACKGROUND: Gorlin-Goltz syndrome (GGS) is a autosomic dominant disease, characterised by basal cell carcinoma, palmar/plantar pits, maxillary and mandibular keratocysts and dental abnormalities.
METHODS: Nine out of a sample of 24 GGS patients had complete cephalometric and photographic records at an average age of 8.7 years. Cephalometric and photometric analysis were carried out with standard analyses and compared with healthy patients matched for sex and age.
CONCLUSIONS: Early diagnosis of GGS based on clinical features could be useful to identify the presence of keratocysts through x-ray examination proceeding with surgical removal at an early stage, limiting space occupying damages.

The aim of this study is to report an original case series of synchronous jawbone diseases. Data of patients seen over 13 years were extracted from the files of three Oral Radiology and Pathology diagnostic centers in Brazil. The clinical, radiographic, and laboratory characteristics were tabulated and analyzed by the authors; the patients were described according to lesion type. Seventy-two synchronous jawbone diseases were included in this study. Florid osseous dysplasia, Gorlin-Goltz syndrome, and cherubism were the most frequent disorders reported in this case series. In addition, the posterior mandible area was the main site of manifestation. Florid osseous dysplasia and Gorlin-Goltz syndrome represented two-thirds of our samples. With the utilization of adequate demographic, clinical, and radiologic information, it is possible to diagnose most of the synchronous lesions of jawbones. Sometimes, however, we need complementary exams, such as histopathologic and biochemical analysis or dosing of calcium, phosphorus, and alkaline phosphatase.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition characterized by the development of odontogenic keratocyst (OKC), basal cell carcinomas and palmar-plantar pits among other conditions. Reports about Latin American population are scarce.
To analyze the clinical, radiographic, histopathologic and inherited features of odontogenic keratocyst and palmar pits in three Chilean families with nevoid basal cell carcinoma syndrome.
After histopathologic diagnosis of OKC, notified consent was requested and evaluation of the affected patients and their families was done.
Two families appeared to have only one affected adolescent, and both of them were considered de novo cases. In the third family, three affected members participated in this study, with an autosomal dominant presentation. All affected patients had OKC and palmar pits. Basal cell carcinomas were present only among adult patients. All examined patients were from Latin American ethnic groups.
Patients with NBCCS had single or multiple OKCs that were located more frequently in the mandibular area. One family had autosomal dominant inheritance and the other two families were de novo cases. None of the three teenage patients had basal cell carcinomas.

BACKGROUND: Current evidence suggests that nevoid basal cell carcinoma syndrome (NBCCS)-associated odontogenic keratocysts (OKCs) exhibit more aggressive clinical behavior and a higher tendency to relapse. The prognostic efficacy of various markers in sporadic and syndromic OKCs is unclear, and so are the results of studies on the usefulness of immunohistochemistry in distinguishing syndromic from sporadic OKCs.
OBJECTIVE: This retrospective study aimed to compare the prognostic relevance of various clinicoradiological and histopathological features, as well as the immunoexpression of COX-2, Bcl-2, proliferating cell nuclear antigen (PCNA), p53, Ki-67, osteoprotegerin (OPG), receptor activator of nuclear factor κ B (RANK) and receptor activator of nuclear factor κ B ligand (RANKL), as well as RANKL/OPG balance between sporadic and syndromic OKCs, and to test their utility in distinguishing the 2 types of OKC.
METHODS: We compared the immunoexpression of the aforementioned markers between 31 sporadic and 12 syndromic OKCs, and tested clinicopathological findings and levels of immunostaining against recurrence.
RESULTS: We found a significant association between NBCCS and OKC recurrence. There were significant differences in PCNA, p53 and OPG immunoexpression between sporadic and syndromic OKCs. We also found that recurrent sporadic OKCs were significantly larger and markedly more often associated with cortical perforation. Recurrent sporadic OKCs exhibited COX-2 upregulation, but we failed to demonstrate its prognostic relevance. Recurrent syndromic OKCs showed a markedly higher RANKL > OPG ratio.
CONCLUSIONS: The NBCCS-associated OKCs are significantly more prone to recur than their sporadic counterparts. Larger size and radiological signs of cortical perforation in sporadic OKCs may indicate a higher risk of recurrence. The COX-2 is upregulated in recurrent sporadic OKCs, whereas recurrent syndromic OKCs exhibit higher RANKL and lower OPG expression; however, these findings have no prognostic relevance. The immunoexpression of p53, PCNA and OPG may help to distinguish syndromic from sporadic OKCs.

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Gorlin-Goltz syndrome (GGS), is an autosomal dominant inherited disorder related to germline mutation of PTCH1 gene, characterised by the presence of multiple developmental anomalies and tumours, mainly basal cell carcinomas (BCC) and odontogenic keratocysts (OKC). We analysed and compared the expression of calretinin in 16 sporadic OKCs, from 15 patients, and 12 syndromic OKCs from 11 patients; in 19 BCC\'s and 2 cutaneous keratocysts (CKC) belonging to 4 GGS patients, 15 sporadic BCCs and 3 steatocystomas (SC). Calretinin was negative in 10 of 12 syndromic OKCs, focally positive (<5% of cells) in 2; six sporadic OKCs were negative, 6 focally and 4 diffusely positive (p = .02, cases focally and diffusely positive vs. cases negative). All BCCs of 3 GGS patients were negative, the fourth patient presented two BCCs negative and 5 focally or diffusely positive; 7 sporadic BCCs were negative and 8 focally positive (p = NS). Two CKCs resulted negative in one GGS patient; 2 sporadic SCs were positive, and a third was negative. PTCH1 mutations produce an altered PTCH protein and an aberrant activation of Sonic hedgehog (SHH) pathway, leading to tumoral proliferation. It has been demonstrated that treatment of human foetal radial glia cells with SHH reduces, whereas the blockage of SHH increases calretinin expression. We found a lower expression of calretinin in syndromic OKCs compared to sporadic cases. Although calretinin\'s value in differential diagnosis between sporadic and syndromic tumours appears not crucial, our results shed light on the possible link between SHH dysfunction and calretinin expression in GGS-related tumours.

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BACKGROUND: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients.
METHODS: In a pilot study of three patients with 141 BCC lesions, 5-aminolevulinate (20% solution) was applied to all tumors. After 4 h, half of the tumors were illuminated with blue light and the remainder with red light. To ensure safety while treating this many tumors simultaneously, light doses were escalated gradually. Six treatments were administered in three biweekly sessions over 4 months, with a final evaluation at 6 months. Tumor status was documented with high-resolution photographs. Persistent lesions were biopsied at 6 months.
RESULTS: Clearance rates after blue light (98%) were slightly better than after red light (93%), with blue light shown to be statistically non-inferior to red light. Eight suspicious lesions were biopsied, 5 after red light (5/5 were BCC) and 3 after blue light (1 was BCC). Blue light PDT was reportedly less painful.
CONCLUSIONS: Blue light and red light PDT appear to be equally safe and perhaps equally effective for treating BCC tumors in BCNS patients. Further studies to evaluate long-term clearance after blue light PDT are needed.