TRICHOTHIODYSTROPHY WITH SIDEROBLASTIC ANEMIA AND DEVELOPMENTAL DELAY

Authors
LYNCH SA DEBERKER D LEHMANN AR POLLITT RJ REID MM LAMB WH
Citation
Sa. Lynch et al., TRICHOTHIODYSTROPHY WITH SIDEROBLASTIC ANEMIA AND DEVELOPMENTAL DELAY, Archives of Disease in Childhood, 73(3), 1995, pp. 249-251
Citations number
7
Categorie Soggetti
Pediatrics
Journal title
Archives of Disease in Childhood → ACNP
ISSN journal
00039888
Volume
73
Issue
3
Year of publication
1995
Pages
249 - 251
Database
ISI
SICI code
0003-9888(1995)73:3<249:TWSAAD>2.0.ZU;2-P
Abstract
A patient with sideroblastic anaemia, development delay, and trichothi odystrophy is presented. Trichothiodystrophy is a feature of several a utosomal recessive diseases. Photosensitivity, failure to thrive, and developmental delay are commonly observed in affected cases. X Linked inheritance accounts for the bulk of cases with sideroblastic anaemia. This case highlights the importance of routine hair microscopy in cas es of atypical ectodermal dysplasia.