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Hoyeraal–Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype |
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| Authors: | Özgür Bakar MD Ugˇur I?ik MD Cengiz Canpolat MD Yasemin Alanay MD |
| Institution: | 1. Department of Dermatology, School of Medicine, Acibadem University, Istanbul, Turkey;2. Division of Pediatric Neurology, School of Medicine, Acibadem University, Istanbul, Turkey;3. Division of Pediatric Hematology and Oncology, School of Medicine, Acibadem University, Istanbul, Turkey;4. Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey |
| Abstract: | Hoyeraal–Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. We present a Libyan boy with hematologic and neurologic abnormalities with typical dermatologic manifestations of dyskeratosis congenita. Death usually occurs before the age of 4 years as a result of pancytopenia or malignant transformation of mucocutaneous lesions. The boy presented survived longer than 5 years. Early recognition and appropriate genetic counseling are crucial because of the high mortality of this genetic disorder. |
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