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Basal cell naevus syndrome: an update on genetics and treatment
Author(s) -
John A.M.,
Schwartz R.A.
Publication year - 2016
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.14206
Subject(s) - patched , basal cell nevus syndrome , ptch1 , nevoid basal cell carcinoma syndrome , hedgehog signaling pathway , hedgehog , basal cell carcinoma , biology , medicine , basal (medicine) , bioinformatics , pathology , cancer research , basal cell , gene , genetics , insulin
Summary Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 ( PTCH 1 ). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often difficult because of tumour prevalence. Newer inhibitors of the hedgehog signalling pathway and proteins involved in proliferative growth have shown therapeutic promise. In addition, preventive medications are being devised. We propose a method for determining appropriate treatment for cutaneous tumours.