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A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex
Author(s) -
Sarper Nazan,
Zengin Emine,
Kılıç Suar Çakı
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22624
Subject(s) - dyskeratosis congenita , medicine , bone marrow failure , fanconi anemia , dermatology , germline mutation , mutation , aplastic anemia , bone marrow , pathology , stem cell , haematopoiesis , genetics , biology , dna , telomere , gene , dna repair
A 26‐month‐old male presented with bone marrow failure and dystrophic nail lesions mimicking onychomycosis. There was no skin finding. Treatment with androgen and methylprednisolone was started due to unavailability of a matched‐related hematopoietic stem cell donor. After 30 months, transfusion support was required. TINF2 mutation was identified at the age of five and dyskeratosis congenita (DC) was confirmed. TIN2 mutation analysis must be carried out in patients younger than 10 years presenting with bone marrow failure even if characteristic physical anomalies of DC is missing. Genetic confirmation of DC prevents ineffective immunotherapy with misdiagnosis of acquired aplastic anemia. Pediatr Blood Cancer. 2010;55:1185–1186. © 2010 Wiley‐Liss, Inc.