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.

journal_name

Pediatr Dermatol

journal_title

Pediatric dermatology

authors

Bakar Ö,Işik U,Canpolat C,Alanay Y

doi

10.1111/pde.12693

subject

Has Abstract

pub_date

2015-11-01 00:00:00

pages

e263-6

issue

6

eissn

0736-8046

issn

1525-1470

journal_volume

32

pub_type

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