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Trichothiodystrophy with sideroblastic anaemia and developmental delay
S A Lynch1, D de Berker, A R Lehmann
1Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne.
Archives of Disease in Childhood
|September 1, 1995
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.