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Year : 2019  |  Volume : 20  |  Issue : 1  |  Page : 71-74

Zinser–Engmann–Cole syndrome: Two case report

Department of Dermatology, K R Hospital, Mysore Medical College and Research Institute, Mysore, Karnataka, India

Correspondence Address:
Dr. Sathish Shankar
Department of Dermatology, Room No. 14, 1st Floor, OPD Block, K R Hospital, Irwin Road, Mysore - 570 001, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_41_18

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We report two cases of dyskeratosis congenita. Case 1: An 11-year-old male child presented to us with severe anemia and pancytopenia resulting in cardiac failure, in addition to the classical clinical triad including skin atrophy with mottled pigmentation, nail dystrophy, and oral leukoplakia; he also had palmoplantar keratoderma, adermatoglyphia, mucosal involvement resulting in epiphora, and urethral stricture. Urethral involvement is usually a rare presentation. Case 2: A 5-year-old female child presented with mottled pigmentation, oral leukoplakia, palmoplantar keratoderma with adermatoglyphia, delayed milestones, mental retardation, repeated skin and pulmonary infections, and dental caries along with anemia. In addition, the child had meningocoele which is so far not reported. It is very important to have high index of suspicion about cutaneous markers of dyskeratosis congenita, and its early diagnosis helps to prevent life-threatening systemic complications and to give quality of life.

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