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Involvement of the humerus in two generations with spondyloepiphyseal dysplasia
U Givon1, S J Kumar, C I Scott
1Department of Orthopaedics, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
Insights
Spondyloepiphyseal dysplasia can cause pseudarthrosis-like lesions in the humerus. These bone lesions in children with spondyloepiphyseal dysplasia congenita often remodel completely over time.
Area of Science:
- Orthopedics
- Genetics
- Pediatrics
Background:
- Spondyloepiphyseal dysplasia (SED) is a group of skeletal dysplasias characterized by disproportionate short stature and vertebral abnormalities.
- Extraskeletal manifestations like retinal detachment and hearing loss are known complications.
Observation:
- Two patients, a mother and her 6-year-old daughter, presented with pseudarthrosis-like lesions in the mid-diaphysis of both humeri.
- The mother's lesions were asymptomatic and showed complete radiographic remodeling.
- The child's lesions were also asymptomatic.
Findings:
- Pseudarthrosis-like humeral lesions may represent an underrecognized manifestation of spondyloepiphyseal dysplasia congenita (SEDc).
- These lesions demonstrate a natural history of complete bone remodeling over time.
Implications:
- Radiographic examination of the humeri is recommended for all children diagnosed with SEDc.
- Early identification of these humeral lesions can aid in understanding the full spectrum of SEDc manifestations.
- Complete remodeling suggests a favorable prognosis for these specific bone lesions.
Abstract:
Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskeletal manifestations such as retinal detachment and deafness have been reported. The authors report two patients, a mother and her daughter, aged 35 and 6 years, with findings of pseudarthrosislike lesions in the middiaphysis of both humeri. The mother had minimal symptoms that resolved spontaneously, and the child had no symptoms related to these lesions. The radiographs of the mother show complete remodeling of the lesion. The pseudarthrosislike lesion of the humerus may be one of the manifestations of spondyloepiphyseal dysplasia congentia. In time, the bone remodels completely. Because this is a relatively new radiographic finding, the authors suggest performing a radiograph of the humeri in patients with spondyloepiphyseal dysplasia congenita at least once during childhood.
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