||low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows;|
failure to thrive and frequent regurgitations in early infancy.
Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors.
||Familial, autosomal recessive|
||Elisa Adele Colombo|