Managing advanced basal cell carcinoma (BCC) in patients with Gorlin-Goltz syndrome presents unique clinical challenges due to the tumor\'s aggressive nature and potential for widespread metastasis. This case study details a sequential treatment regimen for a 68-year-old female patient with an extensive, inoperable BCC. Employing a multimodal approach that integrates radiotherapy, the Hedgehog pathway inhibitor vismodegib, and High-Intensity Focused Ultrasound (HIFU), we demonstrate the potential for nearly complete remission in a patient with advanced BCC. Initial treatment with radiotherapy and vismodegib reduced tumor size significantly, but the largest mass displayed resistance over time, signifying the need for innovative therapies. Subsequent HIFU treatment targeted individual lesions, showcasing a non-invasive method that provided precise treatment while mitigating systemic side effects. The case emphasizes the necessity of continual adaptation in treatment plans to address the development of resistance and underscores the importance of incorporating new technologies and targeted therapies for complex BCC cases. The successful outcome of this integrated strategy suggests a promising direction for future research and highlights the importance of multidisciplinary approaches that tailor treatment to individual patient needs, tumor characteristics, and evolving therapeutic landscapes.

BACKGROUND: To demonstrate and analyze the 18F-FDG positron emission tomography/computed tomography (PET/CT) findings in this rare nevoid basal cell carcinoma syndrome (NBCCS).
METHODS: A 71-year-old woman with the left invasive breast cancer was treated with hormone therapy for six months and underwent the 18F-FDG PET/CT examination for efficacy evaluation. 18F-FDG PET/CT revealed the improvement after treatment and other unexpected findings, including multiple nodules on the skin with 18F-FDG uptake, bone expansion of cystic lesions in the bilateral ribs, ectopic calcifications and dilated right ureter. She had no known family history. Then, the patient underwent surgical excision of the all skin nodules and the postoperative pathology were multiple basal cell carcinomas. Finally, the comprehensive diagnosis of NBCCS was made. The patient was still in follow-up. Additionally, we have summarized the reported cases (n = 3) with 18F-FDG PET/CT from the literature.
CONCLUSIONS: It is important to recognize this syndrome on 18F-FDG PET/CT because of different diagnoses and therapeutic consequences.

OBJECTIVE: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family.
METHODS: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis.
RESULTS: A novel heterozygous non-frameshift deletion patched 1 (PTCH1) [NM_000264: c.3512_3526del (p.1171_1176del)] was identified by WES and further validated by Sanger sequencing. Bioinformatic and conformational analysis showed that the mutation caused altered PTCH1 protein structure, which may be related to functional abnormalities.
CONCLUSIONS: This study expands the mutation spectrum of PTCH1 in GS and facilitates the early diagnosis and screening of GS. PTCH1 [c.3512_3526del (p.1171_1176del)] may cause structural abnormalities and functional disabilities, leading to GS in families.

Keratocyst is a developmental odontogenic cyst arising from remnants/rests of the dental lamina with biologic behavior similar to benign neoplasm. The presence of multiple odontogenic keratocysts is rare and seen in Gorlin-Goltz syndrome (GGS). GGS syndrome presents with multisystem involvement and the classical triad of multiple basocellular epitheliomas, keratocysts in the jaws, and bifid ribs; that characterize the diagnosis of this syndrome. Multiple odontogenic keratocyst are the most consistent features of the syndrome in 65%-100% of affected individuals and are generally diagnosed at a very early age. Early diagnosis and proper counseling of the parent and patient might help to reduce the morbidity, encourage follow-up for timely treatment, and help in avoiding ionizing radiation that would lead to the development of malignancies.

UNASSIGNED: Odontogenic keratocysts (OKCs) have high recurrence rates. We aimed to identify recurrence patterns in OKCs and the onset of second primary OKCs in non-syndromic and syndromic patients.
UNASSIGNED: Patients with OKCs reporting to our department from 1998 to 2021 (23 years) were retrospectively evaluated using demographic, clinical (age, sex, location, and size), histopathological, radiographic, and treatment data. All patients were followed-up for > 3 years and evaluated for OKC recurrence. Patients with naevoid basal cell carcinoma syndrome (NBCCS) were evaluated separately.
UNASSIGNED: We included 38 and 13 patients in the non-syndromic and syndromic OKC groups, respectively. The recurrence rates were 15.8 and 21.4% in the non-syndromic and syndromic groups, respectively; 8.9% of patients exhibited a second recurrence and 1.8% a third recurrence. No second primary OKCs were observed in the non-syndromic group; 76.9% of patients in the syndromic group developed at least one.
UNASSIGNED: We found a higher recurrence rate in patients with NBCCS compared with patients with non-syndromic OKCs (21.4 versus 15.8%). The probability of developing a second primary OKC in patients with NBCCS was higher compared with that in patients with non-syndromic OKCs (76.9 versus 0%). No statistically significant risk factors for OKC recurrence were identified.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant multisystemic disease with high penetrance. Headache heralding GGS has been previously reported but without discussing potential sources. We report a patient with headache and a novel association (diastematomyelia), which helped with the diagnosis. A 46-year-old woman presented with persistent holocranial headache. On examination, countless hyperpigmented basal cell nevi over the face, pits over the palmar/plantar surface, and palmar and plantar keratosis were observed. A magnetic resonance imaging (MRI) of the spinal cord revealed diastematomyelia. Diagnosis of GGS was finally made. Headache and diastematomyelia should be included in the clinical picture of GGS.

UNASSIGNED: The association between Dentigerous cysts (DCs) and Gorlin-Goltz syndrome (GGS) was claimed theoretically in a very few reports, with very few clinical foundations. The aim of this report was to present a unique case of multiple DCs in the mandible in a patient showing features of GGS.
METHODS: A 63-year-old male patient presented with multiple cyst-like lesions in the mandible associated with some clinical and radiological features of GGS, and that raised the suspension of odontogenic keratocyst (OKC). The patient underwent marsupialization and enucleation of these cysts, and the histopathological examination confirmed the diagnosis of DCs.
UNASSIGNED: In this report, the patient presented with symptoms related to multiple unilocular radiolucent lesions found in the mandible and the clinical and radiological features were highly suggestive of OKCs associated with GGS. However, the perioperative findings raised the suspicion of DCs, which was confirmed by histopathology. Interestingly, GGS is an inherited autosomal dominant disorder arising from mutations in the patched tumor suppressor gene (PTCH). Previous studies showed this gene alteration in DCs; this can possibly be implicated in the pathogenesis of the association found in this report.
CONCLUSIONS: This report presented a case of bilateral DC in the mandible in a patient showing features of GGS. Therefore, this report verified the very rare association between DC and GGS. This may help dentists and physicians in reaching an accurate and early diagnosis of GGS.

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of Gorlin-Goltz syndrome have been identified in the Indian population. It is crucial to diagnose this illness early because it can be connected to a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four patients in this case series were identified and treated in our department between 2019 and 2023. The average patient age was around 20 years old. Jaw swelling and tooth movement were the two most typical presenting concerns. Odontogenic keratocysts (100%), palmer pits (100%), plantar pits (50%), calcification of falx cerebri (50%), and rib abnormalities (50%), were the most prevalent characteristics. None of the patients had basal cell cancer, cleft lip, or medulloblastoma. Multiple odontogenic keratocysts were present in three cases, whereas a single odontogenic keratocyst (OKC) was seen in one patient. Patients were managed with either marsupialization or enucleation, depending on the size of the cyst. Two cases with a large cyst size were marsupialized by using a modified obturator. Two cases with small cysts were managed with enucleation of the cyst followed by chemical cauterization. Recurrence was seen in two cases. In one patient, we noticed the formation of a new cyst. A GGS diagnosis can be made by having a systemic evaluation of the patient. A thorough examination of the patient should be performed in every histopathology-diagnosed case of OKC. This will help to miss the syndromic cases. The treatment part should be conservative, like marsupialization with an obturator in a large cyst. The obturator helps maintain patient hygiene and prevents regular visits for changing dressings. Small-sized cysts can be managed with enucleation and chemical cauterization. Radical resection should be avoided.

UNASSIGNED: Gorlin-Goltz syndrome (GGS) has a wide range of expressivity, with a majority of cases being first diagnosed from the oral findings. Early intervention can reduce its severity.
UNASSIGNED: The primary complaints of all the patients were pain and swelling. Clinical examination with radiological and histopathological evaluation confirmed the diagnosis.
UNASSIGNED: This series presents the six cases of GGS treated over a time frame of five years (2018-2022).
UNASSIGNED: The treatments range from enucleation, chemical cauterisation and peripheral ostectomy to aggressive modalities such as resection and reconstruction.
UNASSIGNED: This series comprises of six patients with ages ranging from 12 to 42 years, four of which were female and two were male presenting minimal expression to highly aggressive forms and its unpredictable frequent manifestation.
UNASSIGNED: This emphasises the significance of long-term periodic follow-up and genetic screening for early detection, thereby reducing the intensity and aggressiveness of the disease.

This article reports the autopsy findings of a 1.5-year-old girl with no history of previous hospital admission who suddenly collapsed at home. After 45 minutes of resuscitation efforts, the cardiac activity was restored. During hospitalization, she had ventricular arrhythmia and extremely elevated cardiac troponin levels. Internal examination and immunohistochemistry revealed cardiac fibromas of the right and left ventricles and extensive hypoxic myocardial damage. The right ventricular fibroma demonstrated interdigitating and entrapped myocardium visible at the edges and within the central portion of the tumor. The left ventricular fibroma originated in the subepicardial region and propagated towards the endocardium.
In diesem Artikel wird über die Autopsiebefunde eines 1,5-jährigen Mädchens ohne vorherige Krankenhauseinweisung berichtet, das plötzlich zu Hause zusammenbrach. Nach 45-minütigen Reanimationsbemühungen war die Herzaktivität wiederhergestellt. Während des Krankenhausaufenthalts litt sie unter ventrikulären Arrhythmien und extrem erhöhten kardialen Troponinspiegeln. Klinische Diagnostik und Immunhistochemie ergaben ein Herzfibrom des rechten und linken Ventrikels und einen ausgedehnten hypoxischen Myokardschaden. Das Fibrom des rechten Ventrikels zeigte ineinandergreifendes und eingeschlossenes Myokard, das an den Rändern und innerhalb des zentralen Teils des Tumors sichtbar war. Das linksventrikuläre Fibrom entstand in der subepikardialen Region und breitete sich zum Endokard aus.