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: Özgür Bakar, Ugˇur Işik, Cengiz Canpolat, Yasemin Alanay
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 32 Issue 6 Pg. e263-6 ( 2015) ISSN: 1525-1470 [Electronic] United States
• PMID: 26446280 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 Wiley Periodicals, Inc.

Topics

• Child, Preschool
• Diagnosis, Differential
• Dyskeratosis Congenita (diagnosis, genetics)
• Fetal Growth Retardation (diagnosis, genetics)
• Humans
• Intellectual Disability (diagnosis, genetics)
• Magnetic Resonance Imaging
• Male
• Microcephaly (diagnosis, genetics)
• Phenotype
• Telomere (genetics)