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CASE REPORT
Year : 2022  |  Volume : 23  |  Issue : 1  |  Page : 80-82

An interesting case report on zinsser-engman-cole syndrome “a telomeropathy” along with ventricular septal defect


Department of Dermatology, B.J. Medical College and Civil Hospital, Ahmedabad, Gujarat, India

Correspondence Address:
Vinita U Brahmbhatt
Room No. 125, 1st Floor, OPD Building, Civil Hospital, Asarwa, Ahmedabad - 380 016, Gujarat
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_94_20

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Zinsser-Engman-Cole syndrome or dyskeratosis congenital (DKC) is a rare progressive inherited disorder which is classically defined by the triad of ectodermal dysplasia including abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It has a highly variable phenotype and is characterized by shortening of telomeres. Here, we report a 19-year-old boy who presented to us with classic triad of DKC along with bone marrow failure and ventricular septal defect, a rare association. DKC is a rare disease but can be diagnosed by simple inspection of the mucocutaneous abnormalities.


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