Pyle disease

Pyle disease is a rare bone dysplasia where the long bones are affected, leading to visible changes in bone structure. People with this condition often have broadening of the long bones, which can extend into the shafts. One important sign seen on X-rays is the ‘Erlenmeyer flask’ appearance in the femora and tibiae, which reflects the widening of the bone ends when compared to the shaft. In addition to these long bone changes, the condition can feature genu valgum (knock knees), widening of the ribs and clavicles, platyspondyly (flattened spinal bones), and thinning of the bone outer layer (cortex). This summary is based on details outlined in the disease definition and recognized identifiers such as OMIM, Orphanet, and GARD.

People with Pyle disease often display signs related to abnormal bone growth. These signs include knock knees, altered shape of long bones with a widened appearance, and changes in the ribs, clavicles, and spine. The characteristic ‘Erlenmeyer flask’ appearance, seen in some bone imaging studies, is also a common finding.

The condition is genetic in nature and is associated with changes in the SFRP4 gene. This gene plays a role in bone development, and mutations in this gene can lead to the bone changes seen in Pyle disease. More details about inheritance patterns and risk factors were not provided in the sources.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about ongoing or future research is currently limited for this condition.