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CASE REPORT
Year : 2015  |  Volume : 16  |  Issue : 2  |  Page : 102-104

The H syndrome


Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India

Correspondence Address:
Sharad Mehta
8A, Tulsinagar, Near Sai Baba Temple, Hiranmagri, Sector 5, Udaipur, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.152135

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The H syndrome is a rare autosomal recessive genodermatosis caused by mutations in the nucleoside transporter hENT3. It is characterized by progressive skin sclerosis, hyperpigmentation, and hypertrichosis, along with multiple systemic manifestations including insulin-dependent diabetes mellitus. We report this case for its rarity.


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