• Xin Li, Liya Ai, Chun-Yu Han, Ya-Qi Cao, and Jian-Wen Han.
• Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
• Medicine (Baltimore). 2024 Nov 29; 103 (48): e40471e40471.

RationaleNevoid basal cell carcinoma syndrome (NBCCS) is a rare clinical disease characterized by a disproportionate number of basal cell carcinoma to sun exposure and skin types. Patched 1 (PTCH1) gene is proposed to be implicated in the pathogenesis of NBCCS. This study aimed to investigate whether PTCH1 gene is the causative gene in Chinese patients with NBCCS.Patient ConcernsHere we detected the first nonsense mutation in PTCH1 gene by Sanger sequencing of blood samples from a mother and her second daughter (NM000264: exon14: c.2080C>T: p.Q694X).DiagnosesBoth of the mother and her second daughter had ovarian mature teratomas.InterventionsThe mother received liquid nitrogen cryotherapy, surgical resection, and radiation therapy, while her second daughter was treated with a GX-III multifunctional ion surgical therapy machine and surgery.OutcomesNew rashes continued to appear and contractures of the right eyelid healed in the mother, while her second daughter had multiple pitting depressions on the palms and soles of both hands and feet.ConclusionWe detected a new mutation in PTCH1 gene in 2 patients with NBCCS, and both of them had ovarian mature teratomas, which are related to NM000264: exon14: c.2080C>T: p.Q694X.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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