Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management

Baliga, Shridhar D.; Rao, Sanjay S.

doi:10.1007/s12663-010-0024-9

Cited by 17 publications

(27 citation statements)

References 27 publications

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“…NBCCS is a genetic disorder inherited in a dominant autosomal way [1,4,7,8]. Although its occurrence among family members an important diagnosing criteria, it has been found that between 20% and 40% of cases result from a de novo mutation of the PTCH1 [9q22.3] gene [4,9–13].…”

Section: Etiology and Occurrencementioning

confidence: 99%

“…The syndrome occurs with an equal frequency in men and women and in almost all ethnic groups except for the Caucasian race, which is most often affected by it [1,2,4–6,9]. NBCCS is sometimes diagnosed in very young patients, but in most cases it occurs in people aged between 17 and 35 years [1,15]. The condition is very difficult to diagnose in early childhood because its symptoms appear gradually as the child grows [3,16].…”

Section: Etiology and Occurrencementioning

confidence: 99%

“…In the 1960s, Gorlin and Goltz described them as a triad of disorders including multiple basal cell carcinoma, numerous keratocysts in the jaws and skeletal abnormalities, which gave rise to the Gorlin-Goltz syndrome designation [1–3]. Further research revealed a whole range of its clinical manifestations, consequences, and genetic background.…”

Section: Introductionmentioning

confidence: 99%

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Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Kiwilsza

Sporniak‐Tutak

2012

Med Sci Monit

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SummaryGorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments.We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome.We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews.Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.

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Section: Etiology and Occurrencementioning

confidence: 99%

Section: Etiology and Occurrencementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Kiwilsza

Sporniak‐Tutak

2012

Med Sci Monit

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“…Radiotherapy is contraindicated, since further BCCs could be induced, where the mutation of the PTCH1 gene causes an increased sensitivity to radiation [4,5] .…”

Section: Introductionmentioning

confidence: 99%

Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome

Stieger

Hunger²

2016

Dermatology

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Background: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract. Gorlin-Goltz patients need multidisciplinary medical care and follow-up as well as genetic counseling if the patients want to have children. The treatment of multiple BCCs includes conventional surgery, micrographic Mohs surgery, cryotherapy, laser ablation, photodynamic therapy, imiquimod 5% cream, 5-fluorouracil cream as well as the sonic hedgehog pathway inhibitor vismodegib. Case Report: We report the case of a 30-year-old woman seen in our dermatological department since 2003. All the above-mentioned modalities had been employed for her numerous BCCs. The patient grew wary of the surgical procedures because of the countless scars. We successfully treated multiple BCCs with ingenol mebutate without post-inflammatory scarring. At 8-month follow-up, the patient shows no recurrence of the treated lesions. Conclusion: Ingenol mebutate can be used to treat (superficial) BCCs in patients with Gorlin-Goltz syndrome as an additional modality. Close clinical follow-up is recommended.

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“…The assumed prevalence of the disease is 1:60,000, with no gender predilection. As symptoms gradually appear with child growth, NBCCS is very difficult to diagnose in early childhood, and in most cases it is detected in patients aged between 17 and 35 years and only exceptionally in very young patients [3].…”

Section: Introductionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: Conservative Treatment of Keratocystic Odontogenic Tumors, Frequent First Clinical Manifestation in Pediatric Age

Favia¹,

Tempesta²

2016

Hereditary Genet

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Objective: Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic condition resulting from mutations of the PTCH1 (9q22.3) gene. It involves multiple organs, such as the skin, skeleton and jaws. Aim of this study was to describe Keratocystic Odontogenic Tumors as frequent first clinical manifestation of NBCCS during pediatric age, and theirs conservative treatment, that is really important, especially among young patients. Methods:We report on 20 pediatric patients affected by Gorlin-Goltz Syndrome, presenting totally 60 Keratocystic Odontogenic Tumors. Patients underwent conservative lesion enucleation with maximal permanent teeth preservation. The ostectomy and osteoplasty were made with both conventional rotative instruments and piezoelectric tools, in order to remove damaged bone, epithelial remnants and satellite cysts, and to possibly minimize the recurrence risk. All surgical samples were subjected to histopathological examination and the patients were followed-up for a minimum of 18 months. Results:Overall, 60 Keratocystic Odontogenic Tumors were removed (8 patients with single and the remaining with multiple cysts) with healing of all the surgical wounds without complications. Nevertheless, recurrence of 5 lesions (8.3%) from 3 patients occurred: all of them were >5 cm in maximum diameter and associated with permanent teeth.Conclusion: Keratocystic Odontogenic Tumors in pediatric patients require conservative approaches for permanent teeth preservation. While conventional enucleation leads up to 60% recurrence rates, cavity ostectomy with piezoelectric tools significantly reduced the recurrence risk and allowed preservation of permanent teeth.

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Nevoid-basal cell carcinoma syndrome: a case report and overview on diagnosis and management

Cited by 17 publications

References 27 publications

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome

Gorlin-Goltz Syndrome: Conservative Treatment of Keratocystic Odontogenic Tumors, Frequent First Clinical Manifestation in Pediatric Age

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