A guideline for the clinical management of basal cell naevus syndrome (Gorlin–Goltz syndrome)*

Abstract

The overall objective of this guideline is to provide up-to-date, evidence-based recommendations for the diagnosis and surveillance of all symptoms in children and adults with either basal cell naevus syndrome (BCNS), a clinical suspicion of BCNS, or a parent with BCNS. In the last two groups, the guidelines should be followed until the diagnosis of BCNS can be rejected with certainty. The guideline aims to:• Update and expand on the previous guidelines by an appraisal of all relevant literature from January 2011 up to January 2021• Address important, practical, clinical questions relating to the primary guideline objective• Provide guideline recommendations • Discuss potential developments and future directions The guideline is presented as a detailed review with highlighted recommendations for practical use in the clinic by dermatologists and other healthcare professionals, including general practitioners, clinical geneticists, paediatricians, ophthalmologists, craniomaxillofacial surgeons, neurologists, cardiologists and psychologists. ExclusionsThe guideline does not cover therapeutic recommendations for (nondermatological) symptoms, as the guideline mainly focuses on screening and follow-up of symptoms. Therapeutic recommendations for basal cell carcinomas (BCCs) in general have been published in international BCC guidelines. 1,2 Stakeholder involvement and peer reviewThe guideline was developed at the Maastricht University Medical Centre (MUMC+), the Dutch BCNS expert centre accredited

Skin Cancer Research Goes Digital: Looking for Biomarkers within the Droplets

“…Interestingly, patients with xeroderma pigmentosum harboring mutations in nucleotide excision repair (NER) genes have a 1000-fold higher risk for cutaneous malignancies than the general population [ 84 ]. Moreover, patients with basal cell naevus syndrome (BCNS)/Gorlin-Goltz syndrome displaying germline mutations in the human homolog of the Drosophila patched-1 gene ( PTCH1 ) are prone to develop multiple BCCs during their lifetime [ 85 ]. The incidence of BCNS is estimated at 1 in 56,000–256,000 individuals [ 86 ].…”

“…The incidence of BCNS is estimated at 1 in 56,000–256,000 individuals [ 86 ]. BCNS diagnosis is usually based on clinical criteria, considering the presence of multiple odontogenic cysts and skeletal abnormalities, a calcified falx cerebri, and an increased number of cutaneous nevi; however, it may also require genetic confirmation in some cases, particularly in children or in patients with postzygotic mosaicism (in PTCH1 or SMO ) [ 85 ]. In post-zygotic mosaicism, a mutation usually occurs early in embryogenesis, affecting only cells of a mutant progenitor, leading to a mixture of healthy and affected cell populations.…”

Tumor predisposition: what's the skin got to do with it?

“…Patients with NBCCS also have increased risk for other tumors, including cardiac and ovarian fibromas and medulloblastoma. Less common findings include developmental delay, lympho-mesenteric or pleural cysts, cleft lip/palate, polydactyly, and eye abnormalities [31,32 ▪▪ ].…”

Basal Cell Carcinoma: Pathology, Current Clinical Treatment, and Potential Use of Lipid Nanoparticles

“…For early detection of BCC, dermatologic examination should start at around 10 years old Radiotherapy treatment is contraindicated because of the increased risk of new BCC lesions in the irradiated area [ 11 , 12 ].…”