Distal phalangeal resorption in an adult with infantile malignant osteopetrosis: a case report

Osteopetrosis is a rare inherited skeletal disorder characterized by a defect in bone resorption. The autosomal-recessive infantile malignant form usually results in death in the first few years of life. The natural history of the disease into adulthood is unknown. Reported here is the case of a 27-year-old man with bilateral resorption of the tufts of the distal phalanges in multiple fingers. It is unclear whether this finding constitutes a previously undescribed aspect of the natural course of the disease or a long-term consequence of therapy.