Gorlin–Goltz Syndrome: A Case Report and Literature Review with PTCH1 Gene Sequencing

Autor: Hyo Seong Kim, Seung Heo, Kyung Sik Kim, Joon Choi, Jeong Yeol Yang
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Archives of Plastic Surgery, Vol 50, Iss 04, Pp 384-388 (2023)
Druh dokumentu: article
ISSN: 2234-6163
2234-6171
DOI: 10.1055/a-2096-3536
Popis: Gorlin–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 who was admitted at our department for multiple brown-to-black papules and plaques on the entire body. He was diagnosed with Gorlin–Goltz syndrome with clinical, radiologic, and pathologic findings. While the diagnosis was made based on the clinical findings in general, confirmation of the genetic variants makes an ideal diagnosis and suggests a new treatment method for target therapy. We requested a genetic test of PTCH1 to ideally identify the molecular confirmation in the hedgehog signaling pathway. However, no pathogenic variants were found in the coding region of PTCH1, and no molecular confirmation was achieved.
Databáze: Directory of Open Access Journals
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