24-year-old male patient presented with right scapular pain and short stature.
24-year-old male patient presented with right scapular pain. The CT findings are: Exostosis is noted arising from the medial border of the lower scapula. Another exostosis is noted arising from the left fourth rib near its articulation with transverse process of D4. Third exostosis is seen arising from the spinous process of D4 . Fourth exostosis is noted arising from the left fifth rib near its articulation with the transverse process of the D5. Fifth exostosis is seen in the seventh left rib arising from the medial articulation with the transverse process of D7. Sixth exostosis is seen arising from the lateral aspect of the right 9th rib . The largest exostosis is seen arising from the lower medial border of the right scapula, surrounded by small hypodense collection with no evidence of permeative bony destruction or associated soft tissue masses suggestive of associated bursitis arround the scapula. Fewer and smaller exostoses are also noted outside the thoracic cage at some long bones specially the humeri as shown in the X-ray figures.
DIAPHYSEAL ACLASIS. Most common of osteochondrodysplasias characterized by formation of multiple exostoses, short stature due to development of exostoses at the expense of longitudinal bone growth. Clinical presentation:May be of increasing deformity of a limb or mechanical problems of joints .Exostoses may also cause compressions of nerves ,arteries ,tendons or even the spinal cord. Location: multiple and usually bilateral; knee, humerus, scapula and ribs, elbow, hip, wrist, ankle, hand, foot, pelvis, vertebra. Site: metaphyses of long bones near epiphyseal plate. Upper extremity pseudo-Madelung deformity: Ulnar shortening and longer bowed radius. Ulnar tilt of distal radial articular surface. Ulnar deviation of hand. Dislocation of radial head. Radioulnar synostosis. Shortening of fourth and fifth metacarpals. supernumerary fingers/toes. Lower extremity: coxa valga. Genu valgus. Valgus deformity of ankle. Undertubulation with widened metadiaphyseal junction. Erlenmeyer flask deformity of distal femur. The leg-length inequality is usually about 4 cm, and the risk of malignant degeneration is 1-20%. Pain is a common presentation with malignant transformation. In most instances the malignancy is chondrosarcoma,but isolated cases of dedifferentiated chondrosarcoma and oteosarcoma have been reported. The formation of bursal compartment surrounding a large osteochondroma is common. Bursae are particularly common at sites of friction around scapulae and the distal femur. These bursae may become inflamed and painful. Impaired body growth, both symmetrical and asymmetrical, is common in HME. The result is short stature, limb-length discrepancies, valgus deformities of the knee and ankle and asymmetry of the pectoral and pelvic girdles. Patients with HME frequently have a short stature, most with heights 0.5-1.0 standard deviations below the mean. About 36.8% of affected men and 44.2% of affected women have been observed to have heights below the fifth percentile. Limbs are usually involved disproportionately, as compared with the spine. Limb-length inequality of 2 cm or greater has been reported, with a prevalence ranging from 10%-50%. Shortening can occur in the femur and/or the tibia; the femur is affected approximately twice as commonly as the tibia. Scoliosis; coxa valga (25%); acetabular dysplasia; and shortening of the metatarsals, metacarpals, and phalanges occur less frequently. The hand is involved in 30-79% patients. The metacarpals and phalanges are affected in most patients, who are usually asymptomatic. Osteochondromas may result in shortening of the metacarpals and phalanges, and brachydactyly may also be seen in the absence of osteochondromas. HME is an autosomal dominant disorder with near-complete penetrance and is genetically heterogeneous that has been associated with mutations in at least 3 different genes termed EXT genes. Changes in EXT1 and EXT2 seem to be the most common in HME. Two of the genes are known to function as tumor suppressor genes. The major differetial diagnosis is that of enchodromatosis (Ollier's disease);if medelung deformity is the presenting features then this dyschondrosteosis must be excluded.
DIAPHYSEAL ACLASIS
This case involves a 24-year-old male whose chief complaints are pain in the right scapular region and short stature. CT scans and X-ray images reveal:
Overall, these radiographic findings are consistent with multiple exostoses affecting multiple bones, correlating with the patient’s short stature and other clinical presentations.
Considering the patient's symptoms (right scapular pain, short stature), imaging findings (multiple exostoses appearing on the scapulae and long bones), and literature reports, the most likely diagnosis is Hereditary Multiple Exostoses (HME).
For confirmation, genetic testing (EXT1, EXT2 mutation screening) or targeted imaging follow-up may be conducted. If necessary, a biopsy of suspicious exostoses can be performed.
Provided there is no evident malignant change, fracture risk, or serious joint damage, progressive functional exercises can be carried out. The FITT-VP (Frequency, Intensity, Time, Type, Progression, Volume) principle is recommended:
Additionally, improvement in scapular flexibility and postural alignment is essential to prevent localized muscle tension and pain. If leg length discrepancy significantly affects gait, consider orthotic shoe inserts or braces. Continual monitoring of exostoses is crucial to avoid secondary injuries or neurovascular compromise.
This report provides a reference-based analysis derived from the given history and imaging data. It does not substitute for an in-person clinical examination or the professional assessment of a medical specialist. Should any new symptoms or signs arise, or if significant discomfort occurs during rehabilitation, please seek prompt medical attention for further diagnostic and treatment recommendations.
DIAPHYSEAL ACLASIS
