tailieunhanh - Báo cáo y học: "A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report | Journal of Medical Case Reports BioMed Central Open Access Case report A novel PTCHI germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma a case report Ali Hellani1 Hiba Baghdadi1 Nidal Dabbour2 Nidal Almassri3 and Khaled K Abu-Amero 4 Address 1PGD laboratory Saad Specialist Hospital Al-khobar 31952 Saudi Arabia 2Dermatology Department Saad Specialist Hospital Al-khobar 31952 Saudi Arabia 3Pathology and Laboratory Medicine Department Saad Specialist Hospital Al-khobar 31952 Saudi Arabia and 4Molecular Genetics Laboratory College of Medicine King Saud University Riyadh Saudi Arabia Email Ali Hellani - ahellani@ Hiba Baghdadi - hbbaghdadi@ Nidal Dabbour - nidalo2003@ Nidal Almassri - nmassri@ Khaled K Abu-Amero - abuamero@ Corresponding author Published 9 February 2009 Received II June 2008 Journal of Medical Case Reports 2009 3 52 doi 1752-1947-3-52 Accepted 9 February 2009 This article is available from http content 3 1 52 2009 Hellani et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract_ Introduction Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas odontogenic keratocysts of the jaws and developmental defects. The disorder results from mutations in the PTCHI gene. Case presentation A 15-year-old boy presented to our dental clinic with multiple jaw cysts. The patient had broad confluent eyebrows a broad base of the nose frontal bossing and palmoplantar pits. Examination of the jaw cysts revealed many keratinizing cysts without granular cell layers