title: Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.
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.
authors.affiliation: Department of Dermatology, School of Medicine, Acibadem University, Istanbul, Turkey.
authors.forename: Özgür
authors.initials: Ö
authors.lastname: Bakar
authors.affiliation: Division of Pediatric Neurology, School of Medicine, Acibadem University, Istanbul, Turkey.
authors.forename: Ugˇur
authors.initials: U
authors.lastname: Işik
authors.affiliation: Division of Pediatric Hematology and Oncology, School of Medicine, Acibadem University, Istanbul, Turkey.
authors.forename: Cengiz
authors.initials: C
authors.lastname: Canpolat
authors.affiliation: Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D016615:Telomere / Q000235:genetics