| Contributed by: Dr Prajnya Ranganath Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad |
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| Email: prajnyaranganath@gmail.com | ||
| This 17-years-old male patient presented with history of vomiting, melena, and anemia of 3 months duration. Upper gastrointestinal endoscopy and colonoscopy revealed multiple polyps in the stomach and rectum. There was no history of similar symptoms in other family members. Identify the condition. | ||
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| Answer to PhotoQuiz 47 |
| T-cell immunodeficiency, congenital alopecia, and nail dystrophy (OMIM #601705) T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND) is caused by biallelic mutations in the FOXN1 gene (OMIM *600838) on chromosome 17q11. It is characterized by an association of congenital alopecia, severe T-cell immunodeficiency, and ridging and pitting of all nails |
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| Correct Responses Were Given By: |
| 1. Kanika Singh, New Delhi |