Trichothiodystrophy with sideroblastic anaemia and developmental delay.
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.
D000756:Anemia, Sideroblastic / Q000150:complications* / Q000473:pathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications* / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000150:complications / Q000473:pathology; D006197:Hair / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D014463:Ultrasonography