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Gorlin-Goltz Syndrome: A Case Report and Literature Review with < em > PTCH1 < /em > Gene Sequencing
Arch Plast Surg. 2023 Aug 2;50(4):384-388. doi: 10.1055/a-2096-3536. eCollection 2023 Jul.ABSTRACTGorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disease characterized by multisystemic developmental defects caused by pathogenic variants such as patched-1 ( PTCH1 ) gene variants and/or SUFU gene variants. The presence of either two main criteria or one major and two minor criteria are required for the diagnosis of Gorlin-Goltz syndrome. Recently, a major criterion for molecular confirmation has also been proposed. In this article, we report the case of an 80-year-old male ...
Source: Archives of Plastic Surgery - August 11, 2023 Category: Cosmetic Surgery Authors: Hyo Seong Kim Seung Heo Kyung Sik Kim Joon Choi Jeong Yeol Yang Source Type: research
Gorlin Syndrome and Cowden Syndrome
Keio J Med. 2023 Aug 10. doi: 10.2302/kjm.2023-0010-IR. Online ahead of print.ABSTRACTGorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1) in Gorlin syndrome and mutation in the phosphatase and tensin homolog deleted from chromosome 10 (PTEN) gene in Cowden syndrome. Making a diagnosis of these diseases in the early years of ...
Source: The Keio Journal of Medicine - August 9, 2023 Category: Universities & Medical Training Authors: Hiroyuki Goto Chiharu Tateishi Daisuke Tsuruta Source Type: research
