Dysosteosclerosis information

Dysosteosclerosis (DSS), also known as autosomal recessive dysosteosclerosis or X-linked recessive dysosteosclerosis,^[1] is a rare osteoclast-poor form of osteosclerosis that is presented during infancy and early childhood, characterized by progressive osteosclerosis and platyspondyly.^[2][3] Platyspondyly and other skeletal abnormalities are radiographic features of the disease which distinguish DSS from other osteosclerotic disorders. Patients usually experience neurological and psychological deterioration, therefore patients are commonly associated with delayed milestones.

The cause of DSS is unclear. Different genetic mutations are observed in patients, therefore it is suggested that the cause is genetically heterogeneous. Genetic mutations responsible include, but are not limited to, TCIRG1, TNFRSF11A , and SLC29A3. It is congenital and inherited as an autosomal recessive disorder, however, an X-linked recessive inheritance is outlined in some families.^[4] There is no cure for DSS. Supportive care includes orthopaedic care. Symptomatic treatment involves the reduction in calcium intake in diet.^[5] Less than 30 cases of DSS have been reported in literature to date.^[6]