Nevoid Basal Cell Carcinoma Syndrome

Gorlin, Robert J.

doi:10.1016/b978-0-409-90018-7.50010-4

Cited by 5 publications

(4 citation statements)

References 114 publications

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“…Our data support a correlation between OFC and height and suggest that absolute measurements of head size without regard to stature are inadequate for demonstrating clinically significant macrocephaly. The basal cell nevus syndrome has often been considered a "macrocephaly syndrome" [Gorlin, 1987;Jones, 19881. This study shows that true macrocephaly is a consistent find-ing only in probands with NBCC and not in the remaining cases.…”

Section: Discussionmentioning

confidence: 99%

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I

et al. 1991

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Occipitofrontal circumference (OFC) was strongly correlated with height in 72 normal Caucasian men (r = 0.28, P = 0.018) and 78 women (r = 0.53, P less than 0.0001). OFC:height ratios were approximately normally distributed in each sex with a mean of 0.326 (standard deviation [sd] = 0.0139) in males and 0.335 (sd = 0.0177) in females. Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and six of nine non-probands with NF1. Thirty-one percent of the non-proband NBCC cases had OFC less than the 50th centile for height, while none of the NF1 cases had this finding. Head size appears to be related to proband status in NBCC, while the evidence suggests that NF1 is a true macrocephaly syndrome. Objective detection of relative abnormalities in head size may aid in syndrome delineation and diagnosis.

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Section: Discussionmentioning

confidence: 99%

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I

et al. 1991

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“…Odontogenic keratocysts (OKCs) are common cystic lesions that occur sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). 1,2 In 2005, the WHO classified keratocystic odontogenic tumors (KCOTs) as odontogenic benign tumors, whereas the WHO classification in 2017 and 2022 restored the designation "odontogenic keratosis cyst." Currently, the nature of OKCs is highly controversial; however, they may lead to jaw bone destruction, facial deformity, and functional impairment in patients because of the substantial local aggressiveness of OKC growth and their ease of recurrence after surgical treatment.…”

Section: Introductionmentioning

confidence: 99%

“…3 NBCCS, also known as Gorlin syndrome, is an autosomal dominant disorder associated with variable expressivity of developmental abnormalities, including palmar or plantar pits, bifid ribs, and calcification of the falx cerebri, and are prone to different neoplasms such as basal cell carcinoma (BCC), medulloblastoma, and rhabdomyosarcoma. 1 Multiple OKCs of the jaw is one of the most common manifestations of NBCCS, found in approximately 65%-90% of patients. 1,2 In 1996, loss-of-function mutations in the PTCH1 gene were identified as the cause of NBCCS.…”

Section: Introductionmentioning

confidence: 99%

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PTCH/SMO gene mutations in odontogenic keratocysts and drug interventions

Wang

Hong

et al. 2023

J Oral Pathology Medicine

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BackgroundOdontogenic keratocysts (OKCs) are odontogenic jaw lesions that cause destruction and dysfunction of the jawbone. OKCs can be sporadic or associated with nevoid basic cell carcinoma syndrome (NBCCS). However, the factors that initiate OKCs and the mechanism of cyst formation remain unclear. Here, we investigated the impact of PTCH1 and SMO mutations on disease progression, as well as the effects of sonic hedgehog (SHH) signaling pathway inhibitors GDC‐0449 and GANT61 on OKC fibroblasts.MethodsEight sporadic OKC fibroblasts without gene mutations were used as the control, and six NBCCS‐related fibroblasts were cultured in vitro. The effect of PTCH1 non‐truncated mutation 3499G>A (p.G1167R) and SMO c.2081C>G (p.P694R) mutation on OKC fibroblast proliferation was examined by EdU assay. CCK8 and wound‐healing assays detected the effects of OKC fibroblasts carrying PTCH1 c.3499G>A (p.G1167R) and SMO c.2081C>G (p.P694R) mutations on the proliferation and migration of HaCaT cells after co‐culture. Quantitative real‐time PCR detected the effects of GDC‐0449 or GANT61 on the SHH signaling pathway in NBCCS‐related OKCs with PTCH1 truncated mutations and PTCH1 c.3499G>A (p.G1167R) and/or SMO c.2081C>G (p.P694R) mutations.ResultsPTCH1 c.3499G>A (p.G1167R) and SMO c.2081C>G (p.P694R) promoted the proliferation of OKC fibroblasts. The proliferation and migration of HaCaT cells were affected by NBCCS‐related OKC fibroblasts carrying PTCH1 c.3499G>A (p.G1167R) and SMO c.2081C>G (p.P694R) mutations. GDC‐0449 significantly inhibited the SHH signaling pathway in NBCCS‐related OKC fibroblasts with PTCH1 truncated mutations. An NBCCS‐related OKC carrying PTCH1 c.3499G>A (p.G1167R) and SMO c.2081C>G (p.P694R) mutations were resistant to GDC‐0449 but inhibited by GANT61.ConclusionsGenetic mutations in OKC fibroblasts may affect the biological behavior of epithelial and stromal cells and cause disease. GDC‐0449 could be used to treat OKCs, especially NBCCS‐related OKCs with PTCH1 truncated mutations. SMO c.2081C>G (p.P694R) may lead to resistance to GDC‐0449; however, GANT61 may be used as an alternative inhibitor.

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