Abstract
Main features include: -Growth retardation. -Skin defects appearing within the first year of life (90%) and persisting throuhout life: atrophic dermatosis, poikiloderma, hyperpigmentation, teleangiectasia. -Sparse hair which may progress to partial or total alopecia; dystrophic nails. -Photosensitivity. -Congenital skeletal defects hypoplasia or absence of the radii and thumbs, osteopenia, cystic or sclerotic changes of the long bones (>50%); bone age lower than chronological age. -Juvenile cataract, corneal dystrophy (50%). -Hypodontia. -Hypogonadism (25%). -Proportionate short stature. -Premature aging. Detailed definition of the clinical profile in a contemporary cohort of 41 RTS patients evidences some differences in the distribution of the clinical findings (figure 1), which should be kept into account to optimize diagnostic criteria. Diagnosis: the diagnosis is difficult before the development of the erythema; differential diagnosis with: -Werner syndrome, -Dyskeratosis congenita, -Cockayne syndrome, -Bloom syndrome, -Fanconi anaemia, -Anhidrotic ectodermal dysplasia.
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