A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex

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 sup...

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Bibliographic Details
Published in:Pediatric blood & cancer 2010-12, Vol.55 (6), p.1185-1186
Main Authors: Sarper, Nazan, Zengin, Emine, Kılıç, Suar Çakı
Format: Article
Language:English
Subjects:
Age
Androgens
Androgens - therapeutic use
Anti-Inflammatory Agents - therapeutic use
Aplastic anemia
Blood
Bone marrow
Bone Marrow Diseases - drug therapy
Bone Marrow Diseases - genetics
Bone Marrow Diseases - pathology
bone marrow failure
Cancer
Child, Preschool
Drug Combinations
Dyskeratosis
dyskeratosis congenita
Dyskeratosis Congenita - drug therapy
Dyskeratosis Congenita - genetics
Dyskeratosis Congenita - pathology
dystrophic nails
Humans
Immunotherapy
Male
methylprednisolone
Methylprednisolone - therapeutic use
Mimicry
Mutation
Mutation - genetics
Onychomycosis
Skin
Stem cells
Telomere-Binding Proteins - genetics
TINF2
Transfusion
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Summary: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.
ISSN:1545-5009
1545-5017
1545-5017
DOI:10.1002/pbc.22624