| Main clinical features
|
starts as a papular erythematous rash on the limbs during the first year of life
gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias associated with pachyonychia
and chronic neutropenia
neutropenia, short stature, pachyonychia (nail dystrophy) and pulmonary disease
early-onset skin pigmentation abnormalities and haematological abnormalities as well as a range of other features, mimicking Rothmund-Thompson or dyskeratosis congenita , with normal telomere length (PMID:20817924)) |