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Basal cell nevus syndrome is an autosomal dominant
disorder. The most common underlying genetic cause
is a mutation in de PTCH1 gene. Mutations in PTCH2
or SUFU gene are less common. In this case a 28 years
old patient with basal cell nevus syndrome with a SUFU
mutation is described. Patients with a SUFU mutation
have an increased risk of developing a medulloblastoma
at childhood. Due to the long-term side effects of radiation
therapy, regular neurological assesment is recommended.
Dermatologic examination was recommended
yearly or every six months after developing the first basal
cell carcinoma. Odontogenic keratocysts have not been
described previously in patients with a SUFU mutation.
For this reason, annual screening for jaw cysts is not
Original languageDutch
Pages (from-to)561-564
Number of pages4
JournalNederlands Tijdschrift voor Dermatologie en Venereologie
Issue number10
Publication statusPublished - Oct 2017

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