A 10-year-old boy had reticular pigmentation of the skin, severe dystrophy of finger and toenails, hyperkeratosis of palms and soles, photophobia, excessive lacrimation, and later, leukoplakia of the tongue as well as progressive anemia and pancytopenia. Irregular reticulocytosis was present until shortly before death at age 17 years. The bone marrow showed reversal of the myeloid to erythroid ratio and presence of numerous mast cells and plasma cells. It is assumed that both marrow dysplasia and hemolysis were involved in the hematologic disorder. Extensive aseptic necrosis of bones and persistent pulmonary infiltrations constituted the major complications.
Cytogenetic studies of the patient and his family revealed no excessive chromosomal breakage, in contrast to the usual findings in Fanconi anemia.