Contributed by: Dr Shubha R Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow |
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Email: shubhraophadke@gmail.com | ||
This 30 years-old man presented with recurrent epistaxis and hemoptysis. Identify the condition. | ||
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Answer to PhotoQuiz 48 |
Peutz-Jeghers syndrome (OMIM #175200) Peutz-Jeghers syndrome is a familial cancer predisposition syndrome characterized by melanocytic macules on the lips, buccal mucosa and digits, multiple hamartomatous polyps mainly in the gastrointestinal tract and sometimes in the urinary tract, and an increased risk of malignancies (including colorectal, gastric, pancreatic, breast, and ovarian cancers). It is caused by heterozygous mutation in the STK11 (serine/threonine kinase) gene (*602216) on chromosome 19p13. It has an autosomal dominant pattern of inheritance. |
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Correct Responses Were Given By: |
1. Dr Mayuri Yeole, Apollo Hospitals, Bengaluru |
2. Dr Deepa Bhat, JSS Medical College & Hospital, Mysore |
3. Dr Sameer Bhatia, SGRH, New Delhi |
4. Ms Niby J Elackatt, Cloudnine Hospital, Bengaluru |
5. Dr Sreelata Nair, Lifeline Super Speciality Hospital, Adoor |
6. Dr Sheetal Sharda, Medgenome Labs, Bengaluru |
7. Dr Ravneet Kaur, AIIMS, New Delhi |
8. Dr Veronica Arora, SGRH, New Delhi |
9. Dr Lekshmi Nair, NIMS, Hyderabad |
10. Dr Kruti Varshney, Centre for Human Genetics, Bengaluru |
11. Dr Haseena Sait, SGPGIMS, Lucknow |
12. Dr Nandhini, JIPMER, Pondicherry |
13. Dr Ranjana Mishra, SGRH, New Delhi |
14. Dr Nishant Rathod, Rajkot |
15. Dr Santosh Patil, Bengaluru |
16. Dr Vindya Subasinghe, Lady Rideway Hospital, Sri Lanka |