Case of the Month
 
 
Clinical History
 

 Case of the Month

  •A 40 year old female presented with ill defined swelling in dorsum of left foot , insidious onset, extending proximally in ventral aspect of leg associated with pain , stiffening and difficulty in walking.

•The swelling developed gradually over a period of 2 years.

•On examination the swelling is hard, non mobile, non tender, not compressible, non pulsatile and irreducible.

Overlying skin appears stretched and showed some focal hyper pigmentation and no dilated veins.



 

 

 

– Courtesy,

 
Dr. Rajendra Solanki MD ( Consulting Radiologist, Suyog Imaging Centre, Mahesana & GIC-PGIR, Ahmedabad )

Dr. P A Amin – Professor & Head, BJ Medical College & Civil Hospital, Ahmedabad.

Dr. Abhilasha Jain – Assistant Professor

Dr. Madhavi Pandya – Resident


 

 

   
Dr. Rajendra Solanki MD
Consulting Radiologist
Suyog Imaging Centre, Mahesana
Radiscan diagnostics, Ahmedabad.
 
Governing body member, ICRI
Treasurer,  Gujarat State Chapter, IRIA
 
+91 9924204697
 
 
 
 

  

 

 
ANSWER

Introduction

•Melorheostosis is a rare mesodermal sclerotic bone dysplasia .

•The term Melorheostosis is derived from Greek- “Melos” means part and “rhein” means flow.

• The disease is also called Leri’s disease on the name of first person to describe the disease.

•Prevalence is less than 1 per 1000000.

•No sex predilection is seen.

•Disease is associated with somatic mutation of MAP2K1 gene and loss of function mutation of  LEMD3 gene leads to errors in enchondral and intramembranous bone ossification.

 

X ray Ankle AP, Lateral

X ray Ankle AP & lateral view showing undulating cortical thickening (endosteal as well as periosteal) and hyperostosis causing medullary space narrowing involving the fibula, 2nd and 3rd metatarsal bone.

X ray of left Knee with leg

X ray left knee with leg AP and lateral view showing undulating cortical thickening and hyperostosis causing medullary space narrowing involving the fibula, few areas of Flowing/ dripping sclerotic areas in lateral femoral condyle and lateral tibial condyle ,candle wax appearance seen

 

Involvement of hip joint with sparring of axial skeleton;

X ray both hip joints showing lobulated cortical thickening and hyperostosis causing medullary space narrowing involving the femoral shaft with Flowing/ dripping sclerotic areas with candle wax appearance in left femur


Description of Findings

•Multiosteotic sclerotic bone dysplasia

•Typical sclerotomal distribution is seen

•Undulating cortical thickening (endosteal as well as periosteal) and hyperostosis causing medullary space narrowing

•Flowing/ dripping candle wax appearance seen

•Involved bones: left  acetabulum, femur, fibula, talus, calcaneum, 2nd and 3rd metatarsal and phalanges

 

Differential diagnosis

Include any other sclerotic bone diseases like

 

Pyknodysostosis,

 

Myositis ossificans

 

Parosteal osteosarcoma

 

Sclerotic bone metastasis (e.g. breast and prostate)

 

Diagnosis & Discussion

•The lesion can involve mainly appendicular skeleton and rarely axial skeleton.

•There is tendency for monomelic distribution ,a single or multiple bones(as in this case) can be affected with a linear tract involvement of diaphyis/ metaphysis / epiphysis.

•The disease can involve the joints of affected limb and can cross the joint in order to involve distal skeleton.

•There may be involvement of soft tissue including skin, ligaments and tendons resulting in stiffening and contracture of the limb with associated limb length discrepancy.

•In rare cases there can be associated underlying Venolymphatic malformations in the limb.

•In such cases of soft tissue involvement, MRI scan can aid proper evaluation of extent of the disease and can help in surgical management of the case for contracture removal and deformity corrections.

•Treatment options include palliative therapy for pain relief and surgical management in deformity correction.

 

 

Final Diagnosis

Case of Melorheostosis

 

 
 
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