Dysplasia epiphysealis hemimelica

Area of Science:

• Orthopedics
• Pediatric Endocrinology
• Skeletal Dysplasias

Background:

• Dysplasia epiphysealis hemimelica (DEH) is a rare congenital disorder characterized by asymmetric cartilaginous overgrowth.
• It primarily affects the epiphyses of long bones, leading to limb length discrepancies and joint deformities.

Observation:

• A novel case of DEH is presented, the third documented in Spain.
• The patient presented with extensive involvement of nearly all epiphyses on the left side of the body.
• Unexplained left hip involvement post-surgery and left lower limb lengthening were noted.

Findings:

• This case exhibits the most significant epiphyseal involvement reported in the existing world literature.
• The pattern of involvement, particularly the hip, presents unique diagnostic and etiological challenges.

Implications:

• This case expands the understanding of the phenotypic variability and extent of epiphyseal involvement in DEH.
• Further research into the pathogenesis and surgical management of severe DEH cases is warranted.
• Highlights the importance of comprehensive skeletal evaluation in diagnosing rare bone disorders.