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CT shows calcification in falx cerebri and tentorium cerebellum
Source publication
Gorlin-Goltz syndrome is a hereditary autosomal dominant condition with high penetrance and varied phenotypic expressiveness that can appear spontaneously. It is estimated that between 30% and 50% of people with this disease do not know if any of their family members have had it. Patched (PTCH), a tumor suppressor gene found on the 9q22.3 chromosom...
Citations
... The incidence of GGS is estimated at 1 in 50,000-150,000 in the general population with a minimum prevalence of 1 in 64,000, 1 in 560,000 and 1 in 256,000 in Australia, the United Kingdom and Italy, respectively. [5] Despite the established Kimonis criteria, the aggression with which the lesion may spread cannot be mapped and there is decreased awareness amongst the Indian population about this syndrome. [6] Lata et al. in their case series of GGS in the Northern population comparing Indian literature and worldwide, it is suggested that there is a substantial difference between distinct ethnic groups and a sizable variation in the way the syndrome presents in the same population. ...
... The incidence of GGS is estimated at 1 in 50,000-150,000 in the general population with a minimum prevalence of 1 in 64,000, 1 in 560,000 and 1 in 256,000 in Australia, the United Kingdom and Italy, respectively. [5] Despite the established Kimonis criteria, the aggression with which the lesion may spread cannot be mapped and there is decreased awareness amongst the Indian population about this syndrome. [6] Lata et al. in their case series of GGS in the Northern population comparing Indian literature and worldwide, it is suggested that there is a substantial difference between distinct ethnic groups and a sizable variation in the way the syndrome presents in the same population. ...
Rationale
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.
Patient Concerns
The primary complaints of all the patients were pain and swelling. Clinical examination with radiological and histopathological evaluation confirmed the diagnosis.
Diagnosis
This series presents the six cases of GGS treated over a time frame of five years (2018–2022).
Treatment
The treatments range from enucleation, chemical cauterisation and peripheral ostectomy to aggressive modalities such as resection and reconstruction.
Outcomes
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.
Take-Away Lessons
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.
... occurrence of OKs. According to the literature, the frequency of NBCCS has been reported to be 1 in 50,000 to 150,000 in general population (Khodaverdi et al., 2018, Santander et al., 2018, Al-Jarboua et al., 2019, Bartos et al., 2019, Boos Lima et al., 2019, Moramarco et al., 2019, Nilius et al., 2019, Sahu et al., 2019, Cesinaro et al., 2020, Lata and Kaur 2020, Silva et al., 2020, Gao et al., 2021, Rafiq et al., 2021, Singh and Mishra 2021, de Lima et al., 2022, Katayama et al., 2022, Pazdera et al., 2022, Pitak-Arnnop et al., 2022, Rao and Taksande 2022, Reaz et al., 2022, Spadari et al., 2022. ...
Background
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant syndrome that has various expressions in each patient. Generally; NBCCS is followed by multiple nevoid basal cell carcinoma of the skin, orbital anomalies, skeletal anomalies, central nervous system anomalies and multiple odontogenic keratocysts (OK). NBCCS is usually diagnosed between the ages of 5–30 years, with multiple basal cell carcinomas of the skin and OKs in the jaws as the initial findings. The purpose of this paper is to describe and compare the radiographic findings of the OKs in NBCCS patients in the literature with additional cases.
Materials and Methods
In this study, we evaluated the OKs of the patients with NBCCS in PubMed Database with 5 additional cases from our database. A total of 305 articles were found and the articles in English with full-text access were evaluated.
Results
Despite all limitations for a fair discussion; we would like to state that among 59 cases that specified whether a 3D or 2D imaging modality was used, 29 cases were only interpreted with 2D data which should be avoided in OK evaluation.
Discussion
According to the World Health Organization’s Classification of Head and Neck Tumours Book which was published in 2017, OKs in NBCCS has a higher chance to have small satellite cystic lesions which increase their recurrence possibility post-operatively, thus, a thorough clinical and 3D radiographic evaluation should be performed both to NBCCS patients and non-syndromic OK patients to avoid any recurrence.
Conclusion
High recurrence rates of OKs should be reminded all the time. Radiographic examinations with 3D imaging modalities should be done in patients with NBCCS in order to provide a concise diagnosis and optimum treatment.
... It is recommended that follow-up for the BCCs should take place at least 3 or 4 times a year [19]. Neurological examination is needed twice a year, especially in younger children who are at high risk of developing medulloblastoma [19,25]. MRI of the brain is indicated in children aged 1 to 7 years old. ...
... Given that this is an inherited syndrome, genetic counselling should also be suggested [19]. In addition, depending on the signs or symptoms the patients may present, examination of the cardiac system can take place [25]. ...
Patient: Female, 58-year-old
Final Diagnosis: Gorlin syndrome
Symptoms: Multiple pigmented skin lesions
Clinical Procedure: —
Specialty: Dermatology
Objective
Rare disease
Background
Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), nevoid basal cell carcinoma syndrome (NBCCS), and Jaw cyst-Basal cell nevus-Bifid rib syndrome, is a rare multisystemic syndrome that can affect a remarkable number of tissues and organs in the human body. Patients with this syndrome are in jeopardy of developing basal cell skin cancer during puberty or early adulthood.
Case Report
Herein, we report a case of a 58-year-old woman who had multiple pigmented skin lesions and a palpable tumor of the left scapula. The patient underwent surgical excision of the above-mentioned lesions. The histo-pathological examination revealed that 10 of them were basal cell skin carcinomas (BCCs); therefore, the patient was proven to have the syndrome. She had a history of similar skin lesions, which were removed before the age of 20.
Conclusions
This case highlights that rare phenomena, such as the presence of multiple BCCs, require additional investigations and a multidisciplinary approach since a rare and potentially life-threating condition might be the underlying cause. Early diagnosis of Gorlin syndrome is of paramount importance to facilitate the appropriate therapeutic approach, as directed by a multidisciplinary team. Patients with multiple skin lesions need to have regular assessments by their general practitioner or dermatologist, with dermoscopy serving as an important preventive measure. Furthermore, because pathogenesis of the syndrome is characterized by development of basal cell carcinomas, consecutive follow-up is of a great significance.
