Karianne Haga Brandtzæg

• Brandtzæg, Karianne Haga; Lippe, Charlotte von der; Almdahl, Ina S.; Rossow, Anvor Søvde; Falk, Ragnhild S. & Gjersvik, Petter [Vis alle 8 forfattere av denne artikkelen] (2026). Quality of Life, Mental Health and Executive Function in Individuals with Basal Cell Naevus Syndrome. Acta Dermato-Venereologica. ISSN 0001-5555. 106. doi: 10.2340/actadv.v106.adv-2026-0335. Fulltekst i vitenarkiv Vis sammendrag

  Basal cell naevus syndrome (BCNS) is a rare genetic disorder characteriszed by multiple basal cell carcinomas, as well as different extracutaneous tumours, cysts and abnormalities. Research on health-related quality of life (HRQoL) and mental health in BCNS is limited. This cross-sectional study included 62 individuals ≥18 years diagnosed with BCNS. Clinical and genetic data were collected, and five5 validated questionnaires were used to assess self-reported HRQoL, psychological distress, fatigue, pain and everyday executive functioning. Median regression analyses were conducted to identify factors associated with HRQoL. Independent samples t-tests and one proportion z-tests were conducted to compare the BCNS group with the general population. Individuals with BCNS reported lower HRQoL compared with the general population. Elevated anxiety symptoms were observed in 14 individuals (24%). The proportion of individuals reporting everyday executive deficits was higher in the BCNS group compared with the general population. Engagement in employment or higher education was associated with better physical and mental HRQoL, whereas symptoms of anxiety and everyday executive deficits were associated with reduced mental HRQoL. Findings highlight mental health challenges in BCNS. Routine screening for anxiety and executive functioning is suggested as essential steps in identifying those at risk and provideproviding timely psychological support.

• Brandtzæg, Karianne Haga; Lippe, Charlotte von der; Vestengen, Ingvild Kibsgaard; Holtan, Josephine Prener; Winge, Mona Irene & Rustad, Cecilie F. [Vis alle 11 forfattere av denne artikkelen] (2025). Clinical and genetic findings in 103 individuals in Norway with basal cell naevus syndrome. British Journal of Dermatology. ISSN 0007-0963. doi: 10.1093/bjd/ljaf413. Fulltekst i vitenarkiv Vis sammendrag

  Background Basal cell naevus syndrome (BCNS) is a rare autosomal dominant condition characterized by early onset and multiple basal cell carcinomas (BCCs), skeletal and ocular abnormalities, and extracutaneous tumours and cysts. In most cases, BCNS is caused by a pathogenic variant in the tumour suppressor gene PTCH1. Pathogenic variants in SUFU account for a minority of cases. No clear genotype–phenotype associations between different PTCH1 variants have been established. Objectives To identify all individuals with BCNS in Norway, characterize their clinical and genetic profiles, and investigate possible genotype–phenotype associations. Methods In this cross-sectional study, we approached all individuals with BCNS registered at the Department of Dermatology at Oslo University Hospital and two national resource centres for rare medical conditions. Dermatologists, dentists and geneticists across Norway were contacted in order to identify additional individuals with BCNS. Data were collected from structured interviews, whole-body physical examinations, electronic medical records, radiographic imaging and molecular genetic analyses. Results We identified 109 individuals with BCNS, indicating a national prevalence of BCNS of at least 1.9 per 100 000, of whom 103 agreed to be included. Clinical findings confirmed the considerable phenotypic variation in BCNS, including BCC in 61 individuals (median number of BCCs 48, range 1–1025), odontogenic keratocysts in 72 (median number of odontogenic keratocysts 5, range 1–30) and a wide spectrum of ocular and skeletal abnormalities in 43 and 98 individuals, respectively. This study is the first to report the prevalence estimates of autism (4%) and epilepsy (7%), as well as intracranial lesions associated with epilepsy, in BCNS. Genetic analyses identified a pathogenic or probable pathogenic PTCH1 variant in 93 individuals, while 5 individuals had variants of uncertain clinical significance. Twenty-one of the pathogenic PTCH1 variants were novel. None of the individuals with PTCH1 variants in exon 1, all belonging to the same family, exhibited BCCs, odontogenic keratocysts or palmoplantar pitting. Conclusions This study expands the number of pathogenic PTCH1 variants, elucidates important clinical aspects in BCNS and reveals novel insight to genotype–phenotype associations, providing new implications for management and follow-up.

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