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Trichothiodystrophy with sideroblastic anaemia and developmental delay.
  1. S A Lynch,
  2. D de Berker,
  3. A R Lehmann,
  4. R J Pollitt,
  5. M M Reid,
  6. W H Lamb
  1. Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne.

    Abstract

    A patient with sideroblastic anaemia, development delay, and trichothiodystrophy is presented. Trichothiodystrophy is a feature of several autosomal 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 cases of atypical ectodermal dysplasia.

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